Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)	SNV Germline	Chr2:178785999	Pathogenic	Hypertrophic cardiomyopathy 9	No Assertion Criteria Provided	CA122607	rs_28933405	1 SubmittersRCV000013484
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)	SNV Germline	Chr2:178782980	Likely pathogenic	Dilated cardiomyopathy 1G Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA256496	rs_267607155	2 SubmittersRCV000013486 RCV000211871
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	SNV Germline	Chr2:178527121	Likely pathogenic	Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA341209	rs_267607156	6 SubmittersRCV000013489 RCV001378935 RCV001781256 RCV005237373
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	SNV Germline	Chr2:178527148	Pathogenic/Likely pathogenic	Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA341213	rs_281864928	6 SubmittersRCV000013490 RCV001319595 RCV004767005 RCV006697674
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)	SNV Germline	Chr2:178740125	Pathogenic	Dilated cardiomyopathy 1G	No Assertion Criteria Provided	CA256517	rs_267607158	1 SubmittersRCV000013493
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)	SNV Germline	Chr2:178738114	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1G Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA256521	rs_147879266	6 SubmittersRCV000013494 RCV000733710 RCV001089351 RCV004734516
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	SNV Germline	Chr2:178799566	Conflicting classifications of pathogenicity	Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA256527	rs_138060032	19 SubmittersRCV000013495 RCV000172493 RCV000468349 RCV000219791 RCV000617531 RCV001131435 RCV000769143 RCV001134416 RCV001134417 RCV001134418
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	SNV Germline	Chr2:178527098	Conflicting classifications of pathogenicity	Tibial muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA343092	rs_281864929	3 SubmittersRCV000031996 RCV003234934 RCV006272363
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)	SNV Germline	Chr2:178527235	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA138642	rs_193212275	9 SubmittersRCV000039843 RCV000464810 RCV000769835 RCV001509175 RCV002408527 RCV004534848
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	SNV Germline	Chr2:178527222	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA138647	rs_147293964	13 SubmittersRCV000039844 RCV000245995 RCV000464935 RCV001131347 RCV001131346 RCV001134349 RCV001134350 RCV001131348 RCV001528464 RCV004534849
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)	SNV Germline	Chr2:178527073	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138651	rs_397517478	8 SubmittersRCV000039845 RCV000725604 RCV002415479
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)	SNV Germline	Chr2:178764203	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138655	rs_148169214	12 SubmittersRCV000039847 RCV000172723 RCV001129648 RCV001129650 RCV001081037 RCV001129649 RCV001129651 RCV001134674 RCV002381318
NM_001267550.2(TTN):c.10114+5G>A	SNV Germline	Chr2:178764172	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided TTN-related myopathy Lung cancer	Criteria Provided Conflicting Classifications	CA282639	rs_115985443	20 SubmittersRCV000039849 RCV000228929 RCV000247922 RCV000769098 RCV001133198 RCV001133199 RCV001133201 RCV001133200 RCV001133202 RCV001171818 RCV003993762 RCV005890137
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)	SNV Germline	Chr2:178759099	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA282640	rs_183336802	15 SubmittersRCV000039850 RCV000585488 RCV001081342 RCV001133087 RCV001136534 RCV001136536 RCV001136533 RCV001136535 RCV001798128 RCV002399384
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)	SNV Germline	Chr2:178759045	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA282647	rs_45447891	20 SubmittersRCV000039851 RCV000233026 RCV000246467 RCV000769097 RCV001080637 RCV001132162 RCV001132163 RCV001133085 RCV001133086 RCV001132164
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)	SNV Germline	Chr2:178738264	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA138666	rs_202017278	5 SubmittersRCV000039854 RCV000172413 RCV000474160
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)	SNV Germline	Chr2:178738221	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA138670	rs_55906845	16 SubmittersRCV000039855 RCV000185316 RCV000554346 RCV000619842 RCV000769089 RCV001132041 RCV001132979 RCV001132980 RCV001132981 RCV001132982
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)	SNV Germline	Chr2:178735913	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138675	rs_373378672	9 SubmittersRCV000039858 RCV000724172 RCV000534664 RCV001132890 RCV001132891 RCV001136316 RCV001136317 RCV001136315 RCV004724766
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)	SNV Germline	Chr2:178735911	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138679	rs_184307461	12 SubmittersRCV000039859 RCV000727735 RCV001085828 RCV001798129
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)	SNV Germline	Chr2:178735576	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138697	rs_72648925	20 SubmittersRCV000039864 RCV000172700 RCV000245398 RCV000769085 RCV001083213 RCV001131799 RCV001131800 RCV001131801 RCV001131802 RCV001131803 RCV004534850
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)	SNV Germline	Chr2:178734926	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA138702	rs_369933152	6 SubmittersRCV000039866 RCV000539374 RCV001719762
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	SNV Germline	Chr2:178795030	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Condition: not provided Tip-toe gait TTN-related myopathy 6 conditions	Criteria Provided Conflicting Classifications	CA138707	rs_55972547	21 SubmittersRCV000039867 RCV000226691 RCV000248787 RCV000769138 RCV001130574 RCV001130575 RCV001135664 RCV001135666 RCV001135665 RCV001528655 RCV002225276 RCV003993763 RCV005394227
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	SNV Germline	Chr2:178734746	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Supraventricular tachycardia Tip-toe gait TTN-related myopathy	Criteria Provided Conflicting Classifications	CA138719	rs_72648929	22 SubmittersRCV000039869 RCV000245443 RCV000277012 RCV000331058 RCV000273361 RCV000356589 RCV000369337 RCV000416068 RCV001079457 RCV000769081 RCV000852913 RCV002227928 RCV003993764
NM_001267550.2(TTN):c.15496+1G>A	SNV Germline	Chr2:178734327	Pathogenic/Likely pathogenic	Neuromuscular disease Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA138728	rs_397517481	2 SubmittersRCV000039871 RCV001245126
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)	SNV Germline	Chr2:178733826	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait TTN-related disorder Hereditary skeletal muscle disorder	Criteria Provided Conflicting Classifications	CA211174	rs_72648930	20 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV001131551 RCV002225075 RCV004534852 RCV005625234
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)	SNV Germline	Chr2:178733063	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA138759	rs_143845692	10 SubmittersRCV000039883 RCV000245367 RCV000272671 RCV000277429 RCV000327716 RCV000367309 RCV000381306 RCV000469089 RCV001086930 RCV004541133
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)	SNV Germline	Chr2:178732873	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Heart failure Condition: not provided	Criteria Provided Conflicting Classifications	CA282698	rs_72648937	21 SubmittersRCV000039884 RCV000242487 RCV000293024 RCV000333991 RCV000318931 RCV000387402 RCV000387868 RCV000458298 RCV000770101 RCV000852911 RCV001529446
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)	SNV Germline	Chr2:178732863	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138763	rs_190636272	16 SubmittersRCV000039885 RCV000172406 RCV001080301 RCV001130571 RCV001130572 RCV001130573 RCV001130570 RCV001135657 RCV003149638 RCV004541134
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)	SNV Germline	Chr2:178732515	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138772	rs_72648940	16 SubmittersRCV000039888 RCV000172697 RCV000249224 RCV000660557 RCV000852909 RCV001081556 RCV001131189 RCV001131186 RCV001131188 RCV001131187 RCV001170649 RCV004534854
NM_001267550.2(TTN):c.16621+7A>T	SNV Germline	Chr2:178732433	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA282703	rs_10200398	16 SubmittersRCV000039889 RCV000474528 RCV001085418 RCV001130461 RCV001135534 RCV001135532 RCV001135531 RCV001135533 RCV004534855
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)	SNV Germline	Chr2:178731827	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Brugada syndrome Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Sarcoma	Criteria Provided Conflicting Classifications	CA138781	rs_72648942	24 SubmittersRCV000039891 RCV000118738 RCV000252018 RCV000297377 RCV000284293 RCV000336946 RCV000335998 RCV000394055 RCV000852908 RCV000770092 RCV001081837 RCV004534856 RCV005890138
NM_001267550.2(TTN):c.17183-7C>T	SNV Germline	Chr2:178731590	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138786	rs_371785683	12 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000272411 RCV000324946 RCV000342528 RCV000381839 RCV000471462 RCV001170647 RCV001815173
NM_001267550.2(TTN):c.17183-9T>C	SNV Germline	Chr2:178731592	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA232536	rs_141687561	15 SubmittersRCV000039893 RCV000230568 RCV001135408 RCV001135409 RCV001135410 RCV001135411 RCV001135412 RCV001529758
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)	SNV Germline	Chr2:178731542	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Hypertrophic cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138791	rs_72648943	13 SubmittersRCV000039895 RCV000205655 RCV000725312 RCV000852907 RCV001130952 RCV001133901 RCV001133898 RCV001133899 RCV001133900 RCV001798130 RCV004534857
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)	SNV Germline	Chr2:178794432	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138805	rs_145211131	5 SubmittersRCV000039898 RCV000270976 RCV000311791 RCV000363227 RCV000368852 RCV000408385 RCV000867716 RCV002381319
NM_001267550.2(TTN):c.1399-3C>T	SNV Germline	Chr2:178793544	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138811	rs_397517486	4 SubmittersRCV000039900 RCV000461970 RCV001092344 RCV002390168
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)	SNV Germline	Chr2:178730712	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA138812	rs_397517487	4 SubmittersRCV001570620 RCV000039902
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)	SNV Germline	Chr2:178730605	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA246489	rs_373963067	6 SubmittersRCV000039904 RCV000526756 RCV000724392 RCV003486571
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)	SNV Germline	Chr2:178730227	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA138816	rs_376012117	4 SubmittersRCV000039906 RCV000225778 RCV003436926
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)	SNV Germline	Chr2:178729493	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA138833	rs_369544339	7 SubmittersRCV000039912 RCV000545466 RCV000725041
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	SNV Germline	Chr2:178729411	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138838	rs_201263441	10 SubmittersRCV000039913 RCV000172695 RCV000313481 RCV000335088 RCV000370482 RCV000394105 RCV000390068 RCV001087573 RCV001170641 RCV004545740
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	SNV Germline	Chr2:178729380	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Arrhythmogenic right ventricular cardiomyopathy Atrial fibrillation Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138843	rs_72648949	22 SubmittersRCV000039914 RCV000229581 RCV000246252 RCV000283432 RCV000289663 RCV000341928 RCV000380242 RCV000340760 RCV001080584 RCV000852902 RCV001170640
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)	SNV Germline	Chr2:178729340	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138848	rs_146219199	13 SubmittersRCV000039915 RCV000253545 RCV000272168 RCV000329497 RCV000330701 RCV000370173 RCV000387580 RCV000462864 RCV001170639 RCV001311557
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	SNV Germline	Chr2:178729332	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138852	rs_184412722	20 SubmittersRCV000039916 RCV000082364 RCV000262868 RCV000296922 RCV000302779 RCV000342596 RCV000355321 RCV000852901 RCV001082917 RCV001798131
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	SNV Germline	Chr2:178729300	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282728	rs_149131555	13 SubmittersRCV000039918 RCV000226134 RCV000290608 RCV000304112 RCV000345615 RCV000349032 RCV000402296 RCV000769068
NM_001267550.2(TTN):c.151C>T (p.Leu51=)	SNV Germline	Chr2:178802282	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138862	rs_397517489	3 SubmittersRCV000039920 RCV001403457 RCV006659160
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)	SNV Germline	Chr2:178728776	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138872	rs_72648953	20 SubmittersRCV000039923 RCV000154091 RCV000769064 RCV001134665 RCV001134666 RCV001134662 RCV001134664 RCV001086633 RCV001134663 RCV004534862
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)	SNV Germline	Chr2:178728570	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA138877	rs_369275615	6 SubmittersRCV000039927 RCV000274068 RCV000325828 RCV000329256 RCV000383781 RCV000368729 RCV000865191 RCV001079227
NM_001267550.2(TTN):c.19715-4A>G	SNV Germline	Chr2:178727867	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138885	rs_375009631	7 SubmittersRCV000039930 RCV000726302 RCV001087185 RCV003149639
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	SNV Germline	Chr2:178727840	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282763	rs_116572520	13 SubmittersRCV000039931 RCV000228030 RCV000294624 RCV000291004 RCV000315973 RCV000385353 RCV000349495 RCV000769059
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)	SNV Germline	Chr2:178727615	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA138890	rs_397517493	4 SubmittersRCV000039933 RCV000643024 RCV001703895
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	SNV Germline	Chr2:178727190	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138899	rs_146627500	19 SubmittersRCV000039937 RCV000082367 RCV000264795 RCV000260706 RCV000319862 RCV000304724 RCV000359492 RCV000852896 RCV001082940 RCV001798132
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)	SNV Germline	Chr2:178725987	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138912	rs_149470241	18 SubmittersRCV000039940 RCV000082369 RCV001132885 RCV001132886 RCV001132887 RCV001132888 RCV001132889 RCV001086508 RCV001798133 RCV004541135
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	SNV Germline	Chr2:178725981	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Distal myopathy Limb-girdle muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138917	rs_72648958	20 SubmittersRCV000039941 RCV000172694 RCV001079880 RCV001131917 RCV001131918 RCV001131919 RCV001132883 RCV001132884 RCV001798134 RCV005625236 RCV005625235 RCV004534864
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)	SNV Germline	Chr2:178725406	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy TTN-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138930	rs_200118743	15 SubmittersRCV000039945 RCV000172393 RCV001081728 RCV001129107 RCV001129108 RCV001129109 RCV001131791 RCV001131792 RCV001170088 RCV004734557 RCV004018898
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)	SNV Germline	Chr2:178790799	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA138935	rs_146690035	10 SubmittersRCV000039946 RCV000172490 RCV000852945 RCV001085831 RCV001130954 RCV001130955 RCV001130956 RCV001130957 RCV001130953 RCV004541136
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	SNV Germline	Chr2:178724356	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282788	rs_114626713	15 SubmittersRCV000039949 RCV000713983 RCV001136098 RCV001081389 RCV001136095 RCV001136096 RCV001136097 RCV001136099 RCV003486573
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	SNV Germline	Chr2:178724086	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA282803	rs_72648964	16 SubmittersRCV000039952 RCV000249879 RCV000225946 RCV001128991 RCV001128992 RCV001128993 RCV001128994 RCV001528458 RCV001128990
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	SNV Germline	Chr2:178723895	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138945	rs_201394117	15 SubmittersRCV000039953 RCV000082370 RCV000278937 RCV000275531 RCV000333001 RCV000389765 RCV000367843 RCV001079235 RCV001170083 RCV004734558
NM_001267550.2(TTN):c.21404-4A>G	SNV Germline	Chr2:178723700	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA231585	rs_72648965	16 SubmittersRCV000039954 RCV000118741 RCV000143964 RCV001082089 RCV001134548 RCV001134544 RCV001134546 RCV001134545 RCV001134547 RCV004534866
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)	SNV Germline	Chr2:178790732	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138950	rs_147081804	7 SubmittersRCV000039955 RCV000555156 RCV001135275 RCV001135276 RCV001135277 RCV001135278 RCV001135274 RCV001170667 RCV001598619
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)	SNV Germline	Chr2:178802256	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA138956	rs_191057824	9 SubmittersRCV000039956 RCV000617724 RCV000727159
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)	SNV Germline	Chr2:178723432	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138962	rs_138853909	16 SubmittersRCV000039958 RCV000269064 RCV000326449 RCV000350254 RCV000388473 RCV000384905 RCV000713986 RCV001086766 RCV001170080 RCV004534867
NM_001267550.2(TTN):c.1800+1G>A	SNV Germline	Chr2:178790707	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Schizophrenia	Criteria Provided Conflicting Classifications	CA261846	rs_397517497	5 SubmittersRCV000039959 RCV000184208 RCV000503453 RCV000707086 RCV005625237
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)	SNV Germline	Chr2:178722809	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138988	rs_397517500	12 SubmittersRCV000039966 RCV000643520 RCV001573334 RCV002477118 RCV003319175 RCV003486574
NM_001267550.2(TTN):c.22241-5T>C	SNV Germline	Chr2:178722551	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA138993	rs_397517501	6 SubmittersRCV000039967 RCV001396572 RCV001719763 RCV004534868
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)	SNV Germline	Chr2:178722401	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138994	rs_183482849	13 SubmittersRCV000039969 RCV001065236 RCV001130568 RCV001130567 RCV001130569 RCV001130565 RCV001130566 RCV001507605 RCV003149640 RCV004534869
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)	SNV Germline	Chr2:178722088	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139000	rs_200061856	8 SubmittersRCV000039971 RCV000727214 RCV001171043
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)	SNV Germline	Chr2:178722029	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139004	rs_72648969	22 SubmittersRCV000039973 RCV000205601 RCV000267036 RCV000320876 RCV000325323 RCV000380195 RCV000384525 RCV000770074 RCV001529752
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)	SNV Germline	Chr2:178721051	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA282840	rs_201904848	8 SubmittersRCV000039977 RCV000287408 RCV000342343 RCV000322519 RCV000377175 RCV000375799 RCV000474181 RCV003137562
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)	SNV Germline	Chr2:178720641	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA282852	rs_72648971	14 SubmittersRCV000039982 RCV000726226 RCV001130943 RCV001084613 RCV001133897 RCV001133896 RCV001171041 RCV001130944 RCV001133895
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)	SNV Germline	Chr2:178720585	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139019	rs_17452588	19 SubmittersRCV000039983 RCV000248207 RCV000278120 RCV000284280 RCV000331984 RCV000337890 RCV000373899 RCV000372590 RCV000755421 RCV000770071 RCV001529703
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)	SNV Germline	Chr2:178720461	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282862	rs_73038337	15 SubmittersRCV000039986 RCV000246470 RCV000463595 RCV001133767 RCV001133769 RCV001133771 RCV001528272 RCV001133768 RCV001133770 RCV003486576
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)	SNV Germline	Chr2:178720460	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139029	rs_72648973	21 SubmittersRCV000039987 RCV000154089 RCV000270207 RCV000249580 RCV000299836 RCV000305761 RCV000359255 RCV000402503 RCV001081260 RCV001171039 RCV001358669 RCV004534871
NM_001267550.2(TTN):c.23378-10C>A	SNV Germline	Chr2:178720274	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA210970	rs_72648975	10 SubmittersRCV000039988 RCV000417750 RCV001081932 RCV001130102 RCV001130804 RCV001130103 RCV001130805 RCV001130803 RCV004534872
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)	SNV Germline	Chr2:178720250	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA139034	rs_144032104	6 SubmittersRCV000039989 RCV000726274 RCV001130096 RCV001135130 RCV001135129 RCV001135131 RCV001135128
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)	SNV Germline	Chr2:178720104	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139042	rs_149523263	19 SubmittersRCV000039991 RCV000082372 RCV000293069 RCV000352590 RCV000335014 RCV000390050 RCV000406710 RCV000852891 RCV001082941 RCV001798135
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)	SNV Germline	Chr2:178719283	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA139047	rs_200598509	7 SubmittersRCV000039993 RCV000172387
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)	SNV Germline	Chr2:178719276	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA139052	rs_199576800	5 SubmittersRCV000039994 RCV000726463 RCV001081081 RCV001133388 RCV001133389 RCV001134858 RCV001134859 RCV001134860
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)	SNV Germline	Chr2:178718856	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA139062	rs_397517506	6 SubmittersRCV000039999 RCV000231430 RCV003137563 RCV005025092
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)	SNV Germline	Chr2:178718746	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA139066	rs_397517507	4 SubmittersRCV000040002 RCV000248793 RCV001703897
NM_001267550.2(TTN):c.24546T>A (p.Val8182=)	SNV Germline	Chr2:178718560	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139071	rs_397517508	2 SubmittersRCV000040005 RCV000463444
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)	SNV Germline	Chr2:178718467	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139079	rs_397517510	5 SubmittersRCV000040008 RCV000643239 RCV001531338
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)	SNV Germline	Chr2:178718454	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA231586	rs_72648980	16 SubmittersRCV000040009 RCV000118743 RCV000248593 RCV000769055 RCV001083337 RCV001134657 RCV001134658 RCV001134659 RCV001134660 RCV001134656 RCV004534873
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)	SNV Germline	Chr2:178718186	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy 6 conditions TTN-related disorder Gastric cancer	Criteria Provided Conflicting Classifications	CA139087	rs_72648981	20 SubmittersRCV000040011 RCV000082378 RCV001085022 RCV001170867 RCV001132267 RCV001132268 RCV001132269 RCV001132270 RCV001132271 RCV001787037 RCV004534874 RCV005890151
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)	SNV Germline	Chr2:178717787	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139118	rs_200972189	13 SubmittersRCV000040022 RCV000118744 RCV001087646 RCV004541139
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)	SNV Germline	Chr2:178717244	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139128	rs_149855485	19 SubmittersRCV000040029 RCV000082380 RCV000280234 RCV000293034 RCV000374655 RCV000333108 RCV000387544 RCV000852888 RCV001082276 RCV001798137
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)	SNV Germline	Chr2:178717170	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA139137	rs_199619070	6 SubmittersRCV000040031 RCV000473874 RCV000726850 RCV002496642
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)	SNV Germline	Chr2:178717115	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Hypertrophic cardiomyopathy 9	Criteria Provided Conflicting Classifications	CA139141	rs_201523784	12 SubmittersRCV000040032 RCV000172686 RCV001081212 RCV001132881 RCV001136309 RCV001132882 RCV001136308 RCV001136310 RCV003149643 RCV005054150
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)	SNV Germline	Chr2:178715710	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139146	rs_150544093	15 SubmittersRCV000040034 RCV000266857 RCV000272529 RCV000321972 RCV000382248 RCV000376394 RCV000463917 RCV001083818 RCV001170864 RCV004534876
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)	SNV Germline	Chr2:178715656	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139158	rs_372802604	7 SubmittersRCV000040038 RCV000290007 RCV000314787 RCV000345084 RCV000369514 RCV000393922 RCV000529441 RCV001697102 RCV003486578
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)	SNV Germline	Chr2:178715208	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Ventricular tachycardia Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139162	rs_141856116	22 SubmittersRCV000040041 RCV000118746 RCV000249830 RCV000327425 RCV000333139 RCV000268699 RCV000293596 RCV000382034 RCV000852887 RCV000769050 RCV001083462 RCV004528204
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)	SNV Germline	Chr2:178714335	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139171	rs_200088963	15 SubmittersRCV000040048 RCV000226412 RCV000769047 RCV001134537 RCV001134539 RCV001134540 RCV001134536 RCV001134538 RCV001529112
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)	SNV Germline	Chr2:178714308	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA282994	rs_140003804	16 SubmittersRCV000040050 RCV000229613 RCV000272376 RCV000321184 RCV000324738 RCV000364621 RCV000378220 RCV000769046 RCV001084999
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)	SNV Germline	Chr2:178714306	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139175	rs_368151971	5 SubmittersRCV000040051 RCV000249193 RCV000643107 RCV001697103
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)	SNV Germline	Chr2:178714130	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Hypertrophic cardiomyopathy TTN-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA139179	rs_72648990	13 SubmittersRCV000040052 RCV000226309 RCV000725012 RCV001293146 RCV004528205 RCV005394229
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)	SNV Germline	Chr2:178713986	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139188	rs_146057575	16 SubmittersRCV000040055 RCV000289133 RCV000284411 RCV000327811 RCV000333598 RCV000381135 RCV000488131 RCV001084221
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)	SNV Germline	Chr2:178713369	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139194	rs_397517520	4 SubmittersRCV000040060 RCV001293131 RCV001550107
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)	SNV Germline	Chr2:178713199	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139198	rs_376982715	14 SubmittersRCV000040061 RCV000227647 RCV000725243 RCV001170860
NM_001267550.2(TTN):c.27328+5G>A	SNV Germline	Chr2:178712692	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA139202	rs_397517521	7 SubmittersRCV000040063 RCV000209435 RCV000726292 RCV001087453 RCV001131177 RCV001131179 RCV001131175 RCV001131176 RCV001131178 RCV004534879
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)	SNV Germline	Chr2:178712424	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139209	rs_372528823	12 SubmittersRCV000040065 RCV000300773 RCV000336995 RCV000335503 RCV000405514 RCV000394095 RCV000724437 RCV001081198 RCV001170859 RCV004534880
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)	SNV Germline	Chr2:178712329	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy 6 conditions	Criteria Provided Conflicting Classifications	CA139213	rs_368297438	5 SubmittersRCV000040066 RCV000550845 RCV000726525 RCV001798140 RCV005025093
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)	SNV Germline	Chr2:178712087	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA139223	rs_397517523	5 SubmittersRCV000040068 RCV000244039 RCV002496643 RCV003430647
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)	SNV Germline	Chr2:178712037	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA139227	rs_397517524	4 SubmittersRCV000040069 RCV001131061 RCV001131058 RCV001131059 RCV001131060 RCV001131062 RCV004534881 RCV003128574
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)	SNV Germline	Chr2:178711322	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139240	rs_397517527	6 SubmittersRCV000040073 RCV000730993 RCV000852884 RCV001087344
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)	SNV Germline	Chr2:178711166	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283026	rs_144930507	11 SubmittersRCV000040076 RCV000231488 RCV000291931 RCV000344859 RCV000346806 RCV000390703 RCV000404062 RCV001081637
NM_001267550.2(TTN):c.28463-14G>A	SNV Germline	Chr2:178709870	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139256	rs_200917885	4 SubmittersRCV000040080 RCV000281900 RCV000335874 RCV000336885 RCV000379633 RCV000371892 RCV001610337 RCV002054778
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)	SNV Germline	Chr2:178706644	Conflicting classifications of pathogenicity	not specified Cardiac arrest Sudden cardiac death Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA139279	rs_375266859	11 SubmittersRCV000040090 RCV000415299 RCV000530713 RCV000730819 RCV000769897 RCV001134853 RCV001134855 RCV001134857 RCV001134854 RCV001134856
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)	SNV Germline	Chr2:178784240	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139287	rs_370962244	7 SubmittersRCV000040094 RCV000643692 RCV000725042
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)	SNV Germline	Chr2:178704534	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139294	rs_189286381	8 SubmittersRCV000040097 RCV000172684 RCV001078743
NM_001267550.2(TTN):c.29963-13A>G	SNV Germline	Chr2:178704420	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283066	rs_72650008	11 SubmittersRCV000040098 RCV000282220 RCV000335038 RCV000352559 RCV000374337 RCV000403313 RCV001529310 RCV002054780
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)	SNV Germline	Chr2:178704189	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139299	rs_184153985	8 SubmittersRCV000040099 RCV000468986 RCV000768894 RCV001703899 RCV004541142
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)	SNV Germline	Chr2:178702656	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283067	rs_74324101	11 SubmittersRCV000040101 RCV000229424 RCV001133186 RCV001133187 RCV001133188 RCV001133189 RCV001134653 RCV001531334 RCV003486579
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	SNV Germline	Chr2:178702613	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139304	rs_72650011	23 SubmittersRCV000040102 RCV000143966 RCV000172683 RCV000768893 RCV000986941 RCV001081687 RCV004534882
NM_001267550.2(TTN):c.30433+11T>G	SNV Germline	Chr2:178702443	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283082	rs_199848546	5 SubmittersRCV000040105 RCV001129516 RCV001129518 RCV001136529 RCV001129515 RCV001129517 RCV002054781
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)	SNV Germline	Chr2:178702194	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiovascular phenotype Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139313	rs_200593368	14 SubmittersRCV000040107 RCV000260855 RCV000262132 RCV000253899 RCV000300682 RCV000353220 RCV000385979 RCV000475078 RCV000725352 RCV001170630
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)	SNV Germline	Chr2:178784159	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Cardiomyopathy Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139318	rs_376768790	12 SubmittersRCV000040109 RCV000471292 RCV000620387 RCV000725605 RCV000770154 RCV001135012 RCV001135014 RCV001135010 RCV001135011 RCV001135013 RCV004534885
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)	SNV Germline	Chr2:178698879	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Long QT syndrome Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139329	rs_111671438	20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143
NM_001267550.2(TTN):c.30803-15C>T	SNV Germline	Chr2:178696284	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139338	rs_397517535	2 SubmittersRCV000040113 RCV006555373
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)	SNV Germline	Chr2:178784114	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139343	rs_141961878	9 SubmittersRCV000040116 RCV000456367 RCV000725691 RCV002433509
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)	SNV Germline	Chr2:178694626	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139353	rs_72650019	20 SubmittersRCV000040118 RCV000172681 RCV001079188 RCV001129207 RCV001129209 RCV001129210 RCV001129206 RCV001129208 RCV001170628
NM_001267550.2(TTN):c.31426+1G>C	SNV Germline	Chr2:178694598	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive titinopathy	Criteria Provided Conflicting Classifications	CA139358	rs_6749719	4 SubmittersRCV000040119 RCV000209261 RCV000560902 RCV005237460
NM_001267550.2(TTN):c.2776-14T>C	SNV Germline	Chr2:178783799	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139359	rs_201611946	6 SubmittersRCV000040120 RCV001133513 RCV001133514 RCV001133515 RCV001132586 RCV001132587 RCV002054782 RCV004534886
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)	SNV Germline	Chr2:178692021	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139360	rs_200459347	14 SubmittersRCV000040123 RCV000725032 RCV001085078 RCV001131660 RCV001131661 RCV001131663 RCV001131662 RCV001131664 RCV001170626 RCV004534887
NM_001267550.2(TTN):c.31763-1G>A	SNV Germline	Chr2:178689897	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tip-toe gait Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139366	rs_202234172	13 SubmittersRCV000040125 RCV000209343 RCV000726093 RCV001080016 RCV001798142 RCV001849293 RCV003333729
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)	SNV Germline	Chr2:178689853	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139371	rs_370080995	15 SubmittersRCV000040127 RCV000231153 RCV000293056 RCV000308421 RCV000344333 RCV000347979 RCV000387481 RCV001170625 RCV001528269 RCV004541144
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)	SNV Germline	Chr2:178689822	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139375	rs_200213832	12 SubmittersRCV000040128 RCV000233950 RCV000725168 RCV001134533 RCV001134534 RCV001134535 RCV001135959 RCV001135960 RCV004528207
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)	SNV Germline	Chr2:178688688	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder Hypertrophic cardiomyopathy 9 Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139379	rs_115119858	10 SubmittersRCV000040130 RCV000241648 RCV000474330 RCV001798143 RCV004534888 RCV004799179 RCV006449960
NM_001267550.2(TTN):c.32197+11G>A	SNV Germline	Chr2:178688666	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283106	rs_369265969	7 SubmittersRCV000040131 RCV001131415 RCV001131416 RCV001134391 RCV001134392 RCV001131414 RCV002054783
NM_001267550.2(TTN):c.32198-10T>C	SNV Germline	Chr2:178688234	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139384	rs_371121439	5 SubmittersRCV000040132 RCV000868229 RCV001719765 RCV003486580
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)	SNV Germline	Chr2:178684980	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139390	rs_72650030	18 SubmittersRCV000040138 RCV000082390 RCV001131295 RCV001134271 RCV001134273 RCV001134274 RCV001086201 RCV001134272 RCV003486581 RCV004534889
NM_001267550.2(TTN):c.32555-12G>T	SNV Germline	Chr2:178684761	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139395	rs_397517540	4 SubmittersRCV000040139 RCV001131290 RCV001131291 RCV001131292 RCV001131293 RCV001131294 RCV001535406 RCV002054785
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)	SNV Germline	Chr2:178684747	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139397	rs_201738153	14 SubmittersRCV000040141 RCV000254304 RCV000725191 RCV001082304 RCV001131289 RCV001130561 RCV001130562 RCV001130563 RCV001131288 RCV001798144 RCV004534890
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)	SNV Germline	Chr2:178684680	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Ventricular tachycardia Brugada syndrome Supraventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139407	rs_72650031	22 SubmittersRCV000040143 RCV000118748 RCV000245813 RCV000852875 RCV001081904 RCV000770067 RCV001134134 RCV001134135 RCV001134137 RCV001134136 RCV001134138 RCV005621859
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)	SNV Germline	Chr2:178684349	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139412	rs_397517542	7 SubmittersRCV000040145 RCV000560344 RCV001131172 RCV001131173 RCV001131174 RCV001130451 RCV001131171 RCV001725953 RCV004541145
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)	SNV Germline	Chr2:178684055	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA283129	rs_73973137	13 SubmittersRCV000040148 RCV000225853 RCV000245854 RCV000770065 RCV001130445 RCV001135520 RCV001135521 RCV001130444 RCV001135522 RCV004534893 RCV004546420
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)	SNV Germline	Chr2:178682738	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA139426	rs_72650034	16 SubmittersRCV000040152 RCV000154080 RCV000241592 RCV000770062 RCV001085855 RCV001133885 RCV001133887 RCV001133888 RCV001133889 RCV001133886 RCV004541146
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)	SNV Germline	Chr2:178682732	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA139431	rs_72650035	13 SubmittersRCV000040153 RCV000244280 RCV000540453 RCV000725326 RCV000770061 RCV000852874 RCV001130925 RCV001130927 RCV001130929 RCV001130926 RCV001130928
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)	SNV Germline	Chr2:178682728	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283135	rs_115744476	20 SubmittersRCV000040154 RCV000250652 RCV000845348 RCV001083883 RCV001130222 RCV001130223 RCV001130922 RCV001130923 RCV001130924 RCV000770060
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)	SNV Germline	Chr2:178680256	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139436	rs_72650040	15 SubmittersRCV000040158 RCV000172680 RCV000770057 RCV001082271 RCV001130091 RCV001135119 RCV001135120 RCV001130090 RCV001130092 RCV005621860
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)	SNV Germline	Chr2:178679349	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283153	rs_190604150	16 SubmittersRCV000040160 RCV000253048 RCV000727781 RCV001130650 RCV001130646 RCV001130647 RCV001130648 RCV001130649 RCV001081741 RCV003486582 RCV004541147
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)	SNV Germline	Chr2:178782904	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139441	rs_148269839	7 SubmittersRCV000040162 RCV000475442 RCV000725354 RCV002433511
NM_001267550.2(TTN):c.33827-8C>T	SNV Germline	Chr2:178678505	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139448	rs_371318311	8 SubmittersRCV000040163 RCV000725591 RCV001088808 RCV001798145 RCV004541148
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)	SNV Germline	Chr2:178678468	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139449	rs_376874956	10 SubmittersRCV000040165 RCV000261380 RCV000264717 RCV000300081 RCV000315424 RCV000353902 RCV000643124 RCV000714019 RCV001170394
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)	SNV Germline	Chr2:178782872	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA261847	rs_397517547	6 SubmittersRCV000040169 RCV000754723 RCV001314678 RCV002433512 RCV005434619 RCV006688387
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)	SNV Germline	Chr2:178675085	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139474	rs_140640738	19 SubmittersRCV000040174 RCV000082392 RCV000309400 RCV000350143 RCV000315049 RCV000369677 RCV000399534 RCV000852870 RCV001082919 RCV001798146
NM_001267550.2(TTN):c.34708+9G>T	SNV Germline	Chr2:178674305	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139479	rs_397517551	6 SubmittersRCV000040175 RCV000730362 RCV001399669
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)	SNV Germline	Chr2:178672473	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139486	rs_202014478	20 SubmittersRCV000040179 RCV000172679 RCV000247302 RCV000769039 RCV001081699 RCV001133178 RCV001133179 RCV001132263 RCV001132265 RCV001132264 RCV004534895
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)	SNV Germline	Chr2:178782806	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait TTN-related disorder Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139491	rs_142951505	17 SubmittersRCV000040180 RCV000154101 RCV000246075 RCV000209217 RCV000271482 RCV000366063 RCV000369218 RCV000986946 RCV001083564 RCV002227929 RCV004541149 RCV003149645
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)	SNV Germline	Chr2:178672161	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139498	rs_369095270	8 SubmittersRCV000040182 RCV000725450 RCV000769037 RCV001087182
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)	SNV Germline	Chr2:178782570	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA139502	rs_72647868	13 SubmittersRCV000040183 RCV000456345 RCV000714011 RCV002433513 RCV005394230
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)	SNV Germline	Chr2:178671134	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139508	rs_189966800	16 SubmittersRCV000040184 RCV000246293 RCV000274824 RCV000329904 RCV000389983 RCV000364890 RCV000370805 RCV000464829 RCV000769035 RCV001293076 RCV001719766
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)	SNV Germline	Chr2:178659026	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA139513	rs_200992277	12 SubmittersRCV000040185 RCV000082395 RCV000852867 RCV001083903 RCV001136516 RCV001133069 RCV001133070 RCV001133071 RCV001133068
NM_001267550.2(TTN):c.39128-14T>C	SNV Germline	Chr2:178652361	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283182	rs_200916144	7 SubmittersRCV000040190 RCV000294097 RCV000329232 RCV000295213 RCV000383775 RCV000390094 RCV001727542 RCV002054789
NM_001267550.2(TTN):c.39211+6C>T	SNV Germline	Chr2:178652258	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA210973	rs_187365142	16 SubmittersRCV000040193 RCV000723852 RCV000852865 RCV001132960 RCV001132018 RCV001132019 RCV001132020 RCV001085041 RCV001132021 RCV001798147
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)	SNV Germline	Chr2:178651962	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139530	rs_201035457	11 SubmittersRCV000040194 RCV000228887 RCV000725460 RCV001798148
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)	SNV Germline	Chr2:178651252	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139547	rs_186404793	8 SubmittersRCV000040198 RCV000285797 RCV000310247 RCV000346455 RCV000400718 RCV000400546 RCV000468407 RCV001719767 RCV003486584
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)	SNV Germline	Chr2:178782351	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139551	rs_55914517	20 SubmittersRCV000040201 RCV000172732 RCV000253970 RCV001085560 RCV001129772 RCV001132481 RCV001132484 RCV001132483 RCV001132482 RCV001170662 RCV004534896
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)	SNV Germline	Chr2:178642297	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139563	rs_201944202	20 SubmittersRCV000040205 RCV000082399 RCV000294379 RCV000279186 RCV000336318 RCV000337656 RCV000385921 RCV000620121 RCV001086509 RCV001798149 RCV004541151
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)	SNV Germline	Chr2:178641287	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139568	rs_370597107	13 SubmittersRCV000040206 RCV000477228 RCV000619166 RCV000770042 RCV001131657 RCV001131658 RCV001131659 RCV001131656 RCV001131655 RCV001719769
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)	SNV Germline	Chr2:178782297	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA139572	rs_368282893	10 SubmittersRCV000040208 RCV000171326 RCV000643604 RCV001134753 RCV001134755 RCV001134751 RCV001134752 RCV001134754 RCV001293182
NM_001267550.2(TTN):c.40877-14T>C	SNV Germline	Chr2:178637433	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139578	rs_397517561	2 SubmittersRCV000040209 RCV002054792
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)	SNV Germline	Chr2:178782274	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139579	rs_141768043	6 SubmittersRCV000040210 RCV000461316 RCV001133302 RCV001133303 RCV001133304 RCV001133305 RCV001133306 RCV001636630 RCV002321518
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)	SNV Germline	Chr2:178636624	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283198	rs_72650077	20 SubmittersRCV000040213 RCV000251423 RCV000266898 RCV000263483 RCV000312419 RCV000354706 RCV000355579 RCV000465879 RCV001081405 RCV000770040
NM_001267550.2(TTN):c.33G>A (p.Pro11=)	SNV Germline	Chr2:178804610	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139601	rs_138331646	15 SubmittersRCV000040218 RCV000283360 RCV000292016 RCV000342991 RCV000346931 RCV000396961 RCV000621623 RCV000725148 RCV000769152 RCV001086556 RCV004541152
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)	SNV Germline	Chr2:178781235	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139607	rs_72647870	15 SubmittersRCV000040219 RCV000172731 RCV000250640 RCV000852941 RCV001084204 RCV001129652 RCV001129653 RCV001129654 RCV001129655 RCV001132367 RCV001798150
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)	SNV Germline	Chr2:178635258	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139614	rs_369128249	11 SubmittersRCV000040220 RCV000622242 RCV000770039 RCV000868263 RCV001128762 RCV001128763 RCV001128759 RCV001128760 RCV001128761 RCV001528673
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)	SNV Germline	Chr2:178634452	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait	Criteria Provided Conflicting Classifications	CA139618	rs_34706299	14 SubmittersRCV000040225 RCV000172337 RCV000294831 RCV000343733 RCV000328437 RCV000383259 RCV000399696 RCV000618332 RCV001079995 RCV002225277
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)	SNV Germline	Chr2:178633990	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139622	rs_369623392	7 SubmittersRCV000040226 RCV000254284 RCV000458956 RCV000726937
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)	SNV Germline	Chr2:178781121	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139643	rs_397517570	4 SubmittersRCV000040232 RCV000726416 RCV001089291
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)	SNV Germline	Chr2:178633254	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 9	Criteria Provided Conflicting Classifications	CA139649	rs_397517571	6 SubmittersRCV000040234 RCV000230470 RCV002399386 RCV001588857 RCV005051741
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)	SNV Germline	Chr2:178632762	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139657	rs_370342831	7 SubmittersRCV000040236 RCV000769021 RCV000838588 RCV002399387 RCV004734562
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)	SNV Germline	Chr2:178632589	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139661	rs_397517573	6 SubmittersRCV000040237 RCV000617879 RCV000726234 RCV001087264 RCV001171014
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)	SNV Germline	Chr2:178632317	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139665	rs_373491468	12 SubmittersRCV000040239 RCV000473565 RCV000724718 RCV001133884 RCV001135396 RCV001135394 RCV001135395 RCV001135397 RCV002399388
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)	SNV Germline	Chr2:178632204	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139670	rs_181189778	15 SubmittersRCV000040242 RCV000463518 RCV000725048 RCV000852859 RCV001130917 RCV001130918 RCV001130920 RCV001130919 RCV001130921 RCV001171013 RCV002399389
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)	SNV Germline	Chr2:178621556	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA139695	rs_397517579	3 SubmittersRCV000040254 RCV003137565
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)	SNV Germline	Chr2:178621517	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA261855	rs_397517580	6 SubmittersRCV000040256 RCV000786251 RCV000642772 RCV002408529
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)	SNV Germline	Chr2:178621496	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139699	rs_17354992	20 SubmittersRCV000040257 RCV000243472 RCV000271569 RCV000312455 RCV000306752 RCV000350900 RCV000363806 RCV000407483 RCV000755420 RCV000770032 RCV001528376
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)	SNV Germline	Chr2:178621310	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA289089	rs_72677225	24 SubmittersRCV000040258 RCV000118755 RCV000242768 RCV000770031 RCV001133292 RCV001133294 RCV001133295 RCV001133296 RCV001084207 RCV001133293 RCV004534897
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)	SNV Germline	Chr2:178621219	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139704	rs_183245562	12 SubmittersRCV000040259 RCV000725531 RCV001084767 RCV002408530 RCV003149646 RCV004534898
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	SNV Germline	Chr2:178621119	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder Cardiomyopathy Cervical cancer Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA248648	rs_201057307	17 SubmittersRCV000040261 RCV000118756 RCV000282960 RCV000378515 RCV000385022 RCV000986939 RCV000621910 RCV000767850 RCV001085279 RCV004541155 RCV003149647 RCV005890164 RCV005890165
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)	SNV Germline	Chr2:178620456	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139717	rs_397517583	7 SubmittersRCV000040265 RCV000727270 RCV000770026 RCV001079806 RCV004541156
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)	SNV Germline	Chr2:178620031	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA283286	rs_147703145	6 SubmittersRCV000040269 RCV000557245 RCV001133065 RCV001133061 RCV001133062 RCV001133063 RCV001133064 RCV002408533 RCV003326338
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)	SNV Germline	Chr2:178620030	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139729	rs_200042932	11 SubmittersRCV000040270 RCV000643829 RCV000726230 RCV001132133 RCV001132134 RCV001132131 RCV001133060 RCV001132132 RCV002408534 RCV004534899
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)	SNV Germline	Chr2:178618777	Likely pathogenic	Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA261860	rs_397517586	1 SubmittersRCV000040273
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)	SNV Germline	Chr2:178618768	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261864	rs_397517587	4 SubmittersRCV000209642 RCV006555374
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)	SNV Germline	Chr2:178618727	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139739	rs_397517588	5 SubmittersRCV000040275 RCV000724839 RCV001078812
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)	SNV Germline	Chr2:178618670	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139743	rs_115813214	11 SubmittersRCV000040276 RCV000272075 RCV000287419 RCV000322491 RCV000342339 RCV000377170 RCV000470629 RCV000617450 RCV001719770 RCV004534900
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)	SNV Germline	Chr2:178618267	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139747	rs_72677231	22 SubmittersRCV000040277 RCV000206445 RCV000253777 RCV000283374 RCV000291644 RCV000343176 RCV000346585 RCV000382285 RCV000769010 RCV001081905 RCV004541157 RCV005621861
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)	SNV Germline	Chr2:178618036	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Atrial fibrillation Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139757	rs_72677233	21 SubmittersRCV000040280 RCV000225870 RCV000254435 RCV000343876 RCV000308756 RCV000352447 RCV000392384 RCV000404240 RCV000852855 RCV001083111 RCV001798152
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	SNV Germline	Chr2:178617845	Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261868	rs_397517589	2 SubmittersRCV000040282 RCV001852832
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)	SNV Germline	Chr2:178617806	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139762	rs_146181477	20 SubmittersRCV000040283 RCV000082410 RCV000299345 RCV000314422 RCV000369133 RCV000349511 RCV000619989 RCV000406274 RCV000852853 RCV001083906 RCV001798153
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)	SNV Germline	Chr2:178617348	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283315	rs_138576504	13 SubmittersRCV000040286 RCV000227469 RCV000285222 RCV000302752 RCV000337139 RCV000342472 RCV000391758 RCV000621575 RCV000769005 RCV001085025
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)	SNV Germline	Chr2:178617002	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA139772	rs_397517590	2 SubmittersRCV000040287 RCV001711128
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)	SNV Germline	Chr2:178779048	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA283320	rs_36021856	20 SubmittersRCV000040288 RCV000225777 RCV000250117 RCV000266423 RCV000288662 RCV000323811 RCV000380733 RCV000385248 RCV000769135 RCV001530088
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly)	SNV Germline	Chr2:178779040	Conflicting classifications of pathogenicity	not specified	Criteria Provided Conflicting Classifications	CA139777	rs_397517591	2 SubmittersRCV000040289
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)	SNV Germline	Chr2:178615706	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139787	rs_397517593	7 SubmittersRCV000040291 RCV000727035 RCV001798154 RCV002415481
NM_001267550.2(TTN):c.48638+5G>T	SNV Germline	Chr2:178615302	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139791	rs_397517594	4 SubmittersRCV000040293 RCV000578677 RCV002426574 RCV002513563
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	SNV Germline	Chr2:178614880	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Long QT syndrome Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139792	rs_72677242	16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000278356 RCV000284453 RCV000337051 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	SNV Germline	Chr2:178614561	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA139797	rs_72677243	16 SubmittersRCV000040295 RCV000172665 RCV000247886 RCV000655929 RCV001083138 RCV001130555 RCV000768997 RCV001131281 RCV001131282 RCV001131280
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)	SNV Germline	Chr2:178613870	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J 6 conditions Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139810	rs_202094100	16 SubmittersRCV000040300 RCV000184581 RCV000248683 RCV000275689 RCV000330719 RCV000317820 RCV000357355 RCV000372520 RCV000560033 RCV000764335 RCV001170837 RCV004534902
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)	SNV Germline	Chr2:178778883	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy Condition: not provided Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139816	rs_138506461	14 SubmittersRCV000040304 RCV000232832 RCV000618058 RCV001132983 RCV001132985 RCV001132984 RCV001136418 RCV001136419 RCV001170659 RCV001537833 RCV005625238
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)	SNV Germline	Chr2:178612802	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139823	rs_55663050	21 SubmittersRCV000040306 RCV000082412 RCV000282058 RCV000318292 RCV000278424 RCV000321923 RCV000376541 RCV000618761 RCV000770020 RCV000852849 RCV001084198
NM_001267550.2(TTN):c.50355A>G (p.Arg16785=)	SNV Germline	Chr2:178611954	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139832	rs_192143556	2 SubmittersRCV000040311 RCV005761950
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)	SNV Germline	Chr2:178611946	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139836	rs_397517599	12 SubmittersRCV000040312 RCV000284717 RCV000288386 RCV000324575 RCV000339767 RCV000404730 RCV000539364 RCV000770017 RCV001703901 RCV002426575 RCV004541159
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)	SNV Germline	Chr2:178611924	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139841	rs_374672630	6 SubmittersRCV000040313 RCV000254431 RCV000727126 RCV001079702 RCV001798155
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)	SNV Germline	Chr2:178611857	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139845	rs_397517600	6 SubmittersRCV000040315 RCV000618209 RCV000726235 RCV001086999 RCV001170833
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)	SNV Germline	Chr2:178611611	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261872	rs_397517601	5 SubmittersRCV000040317 RCV001852833 RCV003149648 RCV005403743 RCV005630712
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)	SNV Germline	Chr2:178777825	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Atrial fibrillation Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139860	rs_376857956	11 SubmittersRCV000040321 RCV000242790 RCV000544938 RCV000852938 RCV001082368 RCV001798156 RCV004534904
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)	SNV Germline	Chr2:178609501	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139879	rs_200650668	17 SubmittersRCV000040327 RCV000227290 RCV000250975 RCV000279940 RCV000294783 RCV000334677 RCV000389173 RCV000374388 RCV000725456 RCV001170610
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)	SNV Germline	Chr2:178608901	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283403	rs_139789997	15 SubmittersRCV000040329 RCV000618342 RCV000714048 RCV001086625 RCV001134737 RCV001133290 RCV001133291 RCV001134736 RCV001134738 RCV001798157
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)	SNV Germline	Chr2:178608867	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139888	rs_397517607	7 SubmittersRCV000040330 RCV000727140 RCV001084774 RCV002426576 RCV001798158
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)	SNV Germline	Chr2:178608768	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139896	rs_397517609	4 SubmittersRCV000040332 RCV000642909 RCV001588858
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	SNV Germline	Chr2:178607935	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139904	rs_201213901	23 SubmittersRCV000040336 RCV000118765 RCV000852845 RCV001084228 RCV001129509 RCV001129510 RCV001129511 RCV001129508 RCV001136507 RCV001798159 RCV002426577 RCV004534905
NM_001267550.2(TTN):c.53002+10G>A	SNV Germline	Chr2:178607775	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided	Criteria Provided Conflicting Classifications	CA283418	rs_370352450	7 SubmittersRCV000040339 RCV000468834 RCV001336911 RCV006445479
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	SNV Germline	Chr2:178607592	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139912	rs_72646808	17 SubmittersRCV000040340 RCV000172663 RCV000291245 RCV000315170 RCV000350259 RCV000335069 RCV000404069 RCV000618788 RCV000770012 RCV000852844 RCV001086451 RCV002221192 RCV004534906
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	SNV Germline	Chr2:178607428	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139925	rs_397517612	12 SubmittersRCV000040345 RCV000276975 RCV000278213 RCV000332004 RCV000366890 RCV000372745 RCV000560612 RCV000770011 RCV001719771 RCV002426579 RCV004534907
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)	SNV Germline	Chr2:178605029	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139954	rs_55734111	16 SubmittersRCV000040353 RCV000245658 RCV000231268 RCV000770009 RCV001131774 RCV001132763 RCV001131772 RCV001131771 RCV001131773 RCV001293198 RCV001705688
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)	SNV Germline	Chr2:178604988	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA283436	rs_2303834	18 SubmittersRCV000040356 RCV000465245 RCV000770008 RCV001136066 RCV001129093 RCV001129094 RCV001311249 RCV001136065 RCV001136067 RCV002453325 RCV004534908
NM_001267550.2(TTN):c.54381+6C>G	SNV Germline	Chr2:178604702	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139979	rs_368265962	5 SubmittersRCV000040360 RCV000724174 RCV001128980 RCV001128982 RCV001128983 RCV001128981 RCV001131641 RCV004734565
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)	SNV Germline	Chr2:178604197	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139980	rs_370135374	10 SubmittersRCV000040361 RCV000228122 RCV000725242 RCV001170604 RCV002426581
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)	SNV Germline	Chr2:178604051	Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261876	rs_397517620	2 SubmittersRCV000040362 RCV003764696
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)	SNV Germline	Chr2:178604002	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139984	rs_116142642	9 SubmittersRCV000040363 RCV000461813 RCV001131522 RCV001131523 RCV001131524 RCV001131525 RCV001131526 RCV001699025 RCV002433514
NM_001267550.2(TTN):c.54793G>A (p.Val18265Ile)	SNV Germline	Chr2:178603894	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA139988	rs_397517621	2 SubmittersRCV000040364 RCV005639075
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)	SNV Germline	Chr2:178777254	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA139992	rs_199910114	5 SubmittersRCV001719773 RCV002336142 RCV000040365
NM_001267550.2(TTN):c.54811+15G>A	SNV Germline	Chr2:178603861	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139998	rs_201450276	5 SubmittersRCV000040366 RCV001134383 RCV001135848 RCV001135849 RCV001135846 RCV001135847 RCV002054794
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)	SNV Germline	Chr2:178602584	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139999	rs_201035511	14 SubmittersRCV000040367 RCV000172661 RCV000260976 RCV000316224 RCV000341213 RCV000375984 RCV000388261 RCV001086441 RCV001798161 RCV002433515 RCV004528210
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)	SNV Germline	Chr2:178602132	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA140004	rs_72646819	10 SubmittersRCV000040371 RCV000555854 RCV000726968 RCV000764327 RCV005357278
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)	SNV Germline	Chr2:178602002	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140013	rs_367799017	3 SubmittersRCV000040373 RCV000797680 RCV003156220
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)	SNV Germline	Chr2:178601450	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA283460	rs_146608896	12 SubmittersRCV000040375 RCV000228188 RCV000620720 RCV001131279 RCV001134251 RCV001134253 RCV001085000 RCV001134252 RCV001134254 RCV004732586
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)	SNV Germline	Chr2:178601444	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140022	rs_72646823	16 SubmittersRCV000040376 RCV000172659 RCV000245388 RCV000270469 RCV000324440 RCV000290334 RCV000384696 RCV000360425 RCV001080060 RCV001170600 RCV004534910
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)	SNV Germline	Chr2:178601305	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140027	rs_200864020	5 SubmittersRCV000040377 RCV000724558 RCV006555375
NM_001267550.2(TTN):c.56647+1G>A	SNV Germline	Chr2:178599145	Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261880	rs_397517624	2 SubmittersRCV000040383 RCV001230770
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)	SNV Germline	Chr2:178598768	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Cardiovascular phenotype TTN-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA140053	rs_397517627	11 SubmittersRCV000040387 RCV000768980 RCV001130207 RCV001130203 RCV001130204 RCV001130205 RCV001130206 RCV001703902 RCV002433518 RCV004734567 RCV005394231
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)	SNV Germline	Chr2:178597958	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140058	rs_200001206	16 SubmittersRCV000040388 RCV000154063 RCV000456245 RCV002433519 RCV003149649
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	SNV Germline	Chr2:178597751	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA261883	rs_72646831	7 SubmittersRCV000157562 RCV000184240 RCV001213420 RCV002433520
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)	SNV Germline	Chr2:178597604	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140067	rs_200778464	6 SubmittersRCV000040395 RCV000729782 RCV002433521
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)	SNV Germline	Chr2:178595768	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Ventricular tachycardia Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140071	rs_397517630	14 SubmittersRCV000040396 RCV000118768 RCV000253459 RCV000467434 RCV000852835 RCV001135096 RCV001135095 RCV001135098 RCV001135097 RCV001135099 RCV001798164
NM_001267550.2(TTN):c.57847+1G>A	SNV Germline	Chr2:178595506	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA261888	rs_397517631	4 SubmittersRCV000040399 RCV002444494 RCV001798166 RCV006555378
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)	SNV Germline	Chr2:178594372	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140089	rs_189818369	7 SubmittersRCV000040403 RCV000544873 RCV001129936 RCV001129932 RCV001129934 RCV001129933 RCV001129935 RCV001711155 RCV002321519
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)	SNV Germline	Chr2:178593967	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140094	rs_397517636	7 SubmittersRCV000040405 RCV000184655 RCV000302892 RCV000335169 RCV000338819 RCV000396639 RCV000401844 RCV001087765 RCV002321520
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)	SNV Germline	Chr2:178593664	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Ventricular fibrillation Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided	Criteria Provided Conflicting Classifications	CA283500	rs_201840554	14 SubmittersRCV000040407 RCV000463384 RCV000620821 RCV000770002 RCV000852834 RCV001129739 RCV001129741 RCV001134735 RCV001129740 RCV001129742 RCV006449962
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)	SNV Germline	Chr2:178593226	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA140115	rs_397517640	5 SubmittersRCV000040413 RCV000642907 RCV004541162 RCV002225278
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)	SNV Germline	Chr2:178593006	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Arrhythmogenic right ventricular dysplasia 9 Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140129	rs_72646839	12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)	SNV Germline	Chr2:178592801	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140139	rs_371719028	10 SubmittersRCV000040419 RCV000172655 RCV001085920 RCV002321525 RCV004541163
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	SNV Germline	Chr2:178592800	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283510	rs_367622770	15 SubmittersRCV000040420 RCV000254300 RCV000284184 RCV000308595 RCV000339177 RCV000363322 RCV000399397 RCV000465101 RCV001723623 RCV001798168
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)	SNV Germline	Chr2:178592797	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140144	rs_188063446	17 SubmittersRCV000040421 RCV000278971 RCV000318896 RCV000342659 RCV000373508 RCV000386004 RCV000469487 RCV001530016 RCV002321526 RCV004534912
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)	SNV Germline	Chr2:178592197	Conflicting classifications of pathogenicity	not specified Cardiomyopathy 6 conditions Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140152	rs_374163882	5 SubmittersRCV000040424 RCV003149650 RCV002483015 RCV004700309 RCV004724768
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)	SNV Germline	Chr2:178592069	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140157	rs_72646842	12 SubmittersRCV000040425 RCV000266817 RCV000305690 RCV000302100 RCV000353482 RCV000359114 RCV000714060 RCV001086691 RCV002321527 RCV004541164
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	SNV Germline	Chr2:178591814	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140165	rs_199512049	13 SubmittersRCV000040427 RCV000172654 RCV000472663 RCV000768977 RCV001132010 RCV001132952 RCV002321528 RCV004734571
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)	SNV Germline	Chr2:178591004	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140179	rs_200212521	21 SubmittersRCV000040433 RCV000172653 RCV000280109 RCV000286181 RCV000343483 RCV000337757 RCV000396846 RCV001086697 RCV001171297 RCV002222151 RCV002321530 RCV004534913
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)	SNV Germline	Chr2:178776550	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140193	rs_150725992	7 SubmittersRCV000040436 RCV000545067 RCV001128998 RCV001128997 RCV001135973 RCV001135975 RCV001135974 RCV001719774 RCV003335072
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)	SNV Germline	Chr2:178590625	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140204	rs_141973925	22 SubmittersRCV000040438 RCV000242716 RCV000233759 RCV000768968 RCV001082822 RCV001136053 RCV001136054 RCV001136055 RCV001136056 RCV001136057 RCV004534914
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)	SNV Germline	Chr2:178590403	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA140219	rs_147580753	12 SubmittersRCV000040442 RCV000118772 RCV000617338 RCV001086533 RCV004534915
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)	SNV Germline	Chr2:178590316	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140224	rs_202012910	14 SubmittersRCV000040443 RCV000118773 RCV000621098 RCV000643646
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	SNV Germline	Chr2:178589849	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Dilated cardiomyopathy 1G 6 conditions Cardiovascular phenotype Primary familial dilated cardiomyopathy Autosomal recessive titinopathy	Criteria Provided Multiple Submitters No Conflicts	CA261891	rs_72646846	19 SubmittersRCV000184247 RCV000211745 RCV000642745 RCV000768966 RCV001537860 RCV002477121 RCV002453326 RCV003387740 RCV006555379
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)	SNV Germline	Chr2:178589803	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait TTN-related disorder Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA140235	rs_199895260	24 SubmittersRCV000040447 RCV000172651 RCV000279995 RCV000300024 RCV000335020 RCV000378989 RCV000401779 RCV000621320 RCV000768965 RCV000852829 RCV001084857 RCV002222152 RCV004534916 RCV005890170
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)	SNV Germline	Chr2:178589340	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283565	rs_72646848	16 SubmittersRCV000040452 RCV000247961 RCV000545656 RCV001082861 RCV001135748 RCV001135744 RCV001135745 RCV001135746 RCV001135747 RCV001171290
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)	SNV Germline	Chr2:178776385	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Cardiovascular phenotype Primary dilated cardiomyopathy Heart failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140248	rs_141213991	21 SubmittersRCV000040454 RCV000172728 RCV000329243 RCV000617741 RCV000852935 RCV001086722 RCV001798169 RCV004528211
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)	SNV Germline	Chr2:178589153	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140255	rs_200689750	16 SubmittersRCV000040455 RCV000172650 RCV000246008 RCV000263771 RCV000292758 RCV000317683 RCV000318648 RCV000387122 RCV000458325 RCV003149651
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)	SNV Germline	Chr2:178588731	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140264	rs_375006117	15 SubmittersRCV000040457 RCV000268107 RCV000278904 RCV000338583 RCV000323386 RCV000373423 RCV000621929 RCV000726632 RCV001079539 RCV003149652
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)	SNV Germline	Chr2:178588560	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA232501	rs_72646852	17 SubmittersRCV000040461 RCV000227404 RCV000621228 RCV000769986 RCV001131027 RCV001131029 RCV001131030 RCV001079503 RCV001131026 RCV001131028 RCV004732587
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)	SNV Germline	Chr2:178588544	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA140272	rs_375401971	4 SubmittersRCV000040462 RCV000620229 RCV000765561 RCV003137567
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)	SNV Germline	Chr2:178588055	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140280	rs_200726948	11 SubmittersRCV000040464 RCV000172292 RCV000248255 RCV000269467 RCV000332764 RCV000328753 RCV000367338 RCV000382596 RCV000852826 RCV001080206
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)	SNV Germline	Chr2:178776282	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Cardiovascular phenotype TTN-related disorder Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140284	rs_140914855	13 SubmittersRCV000040465 RCV000459694 RCV000725302 RCV001798170 RCV002345306 RCV004734572 RCV005054151
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)	SNV Germline	Chr2:178587751	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140291	rs_200261892	3 SubmittersRCV000040466 RCV002054796 RCV002453329
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)	SNV Germline	Chr2:178587720	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary familial hypertrophic cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140295	rs_72646855	18 SubmittersRCV000040467 RCV000082417 RCV000143969 RCV000297845 RCV000262231 RCV000312697 RCV000357132 RCV000393151 RCV000619500 RCV000852825 RCV001086280
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)	SNV Germline	Chr2:178587332	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA140305	rs_200463088	11 SubmittersRCV000040470 RCV000245900 RCV000295521 RCV000294525 RCV000316505 RCV000334167 RCV000373573 RCV000475891 RCV001798171 RCV004534917 RCV005411309
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)	SNV Germline	Chr2:178587294	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140309	rs_202240487	13 SubmittersRCV000040471 RCV000172287 RCV001086239 RCV001130765 RCV001130768 RCV001130766 RCV001130767 RCV001130769 RCV001170812 RCV002453331
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)	SNV Germline	Chr2:178587269	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140314	rs_201285872	16 SubmittersRCV000040472 RCV000248175 RCV000475952 RCV001085677 RCV001130062 RCV001130063 RCV001130064 RCV001130065 RCV001135093 RCV001170811
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)	SNV Germline	Chr2:178587251	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140318	rs_397517655	11 SubmittersRCV000040473 RCV000727351 RCV000769980 RCV001081322 RCV002453332
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)	SNV Germline	Chr2:178586800	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140326	rs_397517657	4 SubmittersRCV000040476 RCV000731919 RCV001087658 RCV002345307
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)	SNV Germline	Chr2:178586727	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Hypertrophic cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140336	rs_72646859	20 SubmittersRCV000040478 RCV000172649 RCV000244887 RCV001080680 RCV001129930 RCV001129931 RCV001130634 RCV001130633 RCV001130635 RCV001170810 RCV003319176 RCV004541165
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)	SNV Germline	Chr2:178776196	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Systolic heart failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140341	rs_146496197	14 SubmittersRCV000040480 RCV000172727 RCV000264307 RCV000299606 RCV000298490 RCV000358988 RCV000393329 RCV000852934 RCV001083255 RCV001798172 RCV002345308 RCV004534918
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)	SNV Germline	Chr2:178584852	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140358	rs_150661999	20 SubmittersRCV000040483 RCV000082419 RCV000620024 RCV000852822 RCV001079485 RCV001134836 RCV001134837 RCV001134839 RCV001134838 RCV001134840 RCV001798173
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)	SNV Germline	Chr2:178584738	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided	Criteria Provided Conflicting Classifications	CA140367	rs_201614524	7 SubmittersRCV000040485 RCV001336915 RCV001356315
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)	SNV Germline	Chr2:178776123	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140371	rs_374203813	10 SubmittersRCV000040487 RCV000726856 RCV002345310
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)	SNV Germline	Chr2:178584364	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140377	rs_397517660	7 SubmittersRCV000040489 RCV001170805 RCV001727544 RCV004018901 RCV002514153
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)	SNV Germline	Chr2:178584357	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140381	rs_397517661	3 SubmittersRCV000040490 RCV001659979 RCV000245164
NM_001267550.2(TTN):c.65276-8T>C	SNV Germline	Chr2:178583914	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA210974	rs_377484398	5 SubmittersRCV000040491 RCV000727837 RCV001084825 RCV004541166
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)	SNV Germline	Chr2:178583723	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140385	rs_56130023	14 SubmittersRCV000040492 RCV000172648 RCV000285866 RCV000289204 RCV000325515 RCV000341054 RCV000383806 RCV000617230 RCV001084400 RCV001170804 RCV004534919
NM_001267550.2(TTN):c.65575+10T>C	SNV Germline	Chr2:178583597	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA344682	rs_72646864	13 SubmittersRCV000040494 RCV000204359 RCV001133051 RCV001133050 RCV001133052 RCV001136493 RCV001136494 RCV001701487 RCV003149653 RCV004541167
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)	SNV Germline	Chr2:178583199	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA283609	rs_200825430	14 SubmittersRCV000040495 RCV000253653 RCV000466167 RCV000768959 RCV001132125 RCV001132126 RCV001132122 RCV001132124 RCV001132123 RCV001200435 RCV004541168
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)	SNV Germline	Chr2:178583131	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140390	rs_397517662	8 SubmittersRCV000040496 RCV000252626 RCV000993469 RCV001329655 RCV001329656
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)	SNV Germline	Chr2:178583056	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140394	rs_148849567	15 SubmittersRCV000040499 RCV000241625 RCV000282835 RCV000337921 RCV000341241 RCV000408381 RCV000381175 RCV000466378 RCV001170583 RCV001703903 RCV004528213
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)	SNV Germline	Chr2:178583028	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA283624	rs_72646867	18 SubmittersRCV000040500 RCV000225958 RCV000274823 RCV000326526 RCV000329910 RCV000369611 RCV000384695 RCV000621981 RCV000768957 RCV001529138
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)	SNV Germline	Chr2:178776041	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA283629	rs_149668487	17 SubmittersRCV000040501 RCV000643663 RCV001085536 RCV001128880 RCV001128882 RCV001131552 RCV001128879 RCV001128881 RCV001170110 RCV002345311
NM_001267550.2(TTN):c.583+5G>A	SNV Germline	Chr2:178800390	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140399	rs_397517663	6 SubmittersRCV000040502 RCV000642802 RCV001573352
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)	SNV Germline	Chr2:178582370	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA140400	rs_72646868	10 SubmittersRCV000040503 RCV000460102 RCV000714070 RCV002362633 RCV005621862
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)	SNV Germline	Chr2:178581978	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140405	rs_140842479	10 SubmittersRCV000040504 RCV000184735 RCV000765558 RCV001088816 RCV002321531
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)	SNV Germline	Chr2:178581650	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261896	rs_397517664	2 SubmittersRCV000040507 RCV003764698
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)	SNV Germline	Chr2:178581595	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140414	rs_72646870	10 SubmittersRCV000040508 RCV000473534 RCV000714072 RCV002371842
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)	SNV Germline	Chr2:178581576	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Thymoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA210975	rs_200971254	17 SubmittersRCV000040510 RCV000459532 RCV000619559 RCV001132756 RCV001170580 RCV001082762 RCV001136161 RCV001136162 RCV001136163 RCV001132757 RCV005890171 RCV005890172
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)	SNV Germline	Chr2:178580481	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA140433	rs_200343420	10 SubmittersRCV000040513 RCV000269962 RCV000266781 RCV000327353 RCV000323852 RCV000384336 RCV000456180 RCV000617644 RCV001703904
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)	SNV Germline	Chr2:178580462	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140437	rs_397517667	6 SubmittersRCV000040514 RCV000621653 RCV000727127 RCV001087265 RCV001170578
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)	SNV Germline	Chr2:178580188	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Brugada syndrome Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA140450	rs_72646873	22 SubmittersRCV000040518 RCV000230180 RCV000260453 RCV000275767 RCV000318112 RCV000333256 RCV000368971 RCV000621791 RCV000852821 RCV001083546 RCV001170577 RCV002221193 RCV004541169
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)	SNV Germline	Chr2:178580140	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140455	rs_372388682	7 SubmittersRCV000040519 RCV000462522 RCV000618423 RCV001507592 RCV003989305
NM_001267550.2(TTN):c.597A>G (p.Val199=)	SNV Germline	Chr2:178799897	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140463	rs_144214844	7 SubmittersRCV000040522 RCV000727055 RCV001087951 RCV002354201 RCV004534920
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)	SNV Germline	Chr2:178579626	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA140469	rs_397517670	3 SubmittersRCV000040524 RCV000769973 RCV001293133
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	SNV Germline	Chr2:178775871	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait Cardiomyopathy TTN-related myopathy	Criteria Provided Conflicting Classifications	CA140473	rs_144135510	19 SubmittersRCV000040526 RCV000172726 RCV000243819 RCV001085386 RCV001135885 RCV001135886 RCV001135887 RCV001135884 RCV001135883 RCV002225279 RCV003149655 RCV003993766
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)	SNV Germline	Chr2:178579070	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA140484	rs_144295295	3 SubmittersRCV000040528 RCV001135839 RCV001135841 RCV001135838 RCV001134379 RCV001135840
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)	SNV Germline	Chr2:178578057	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 6 conditions Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140519	rs_72646880	15 SubmittersRCV000040538 RCV000282806 RCV000307639 RCV000342426 RCV000337009 RCV000405692 RCV000463057 RCV000618829 RCV001093056 RCV001293209 RCV001787841 RCV001798175 RCV004534921
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	SNV Germline	Chr2:178576311	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder Brugada syndrome	Criteria Provided Conflicting Classifications	CA140538	rs_201043950	22 SubmittersRCV000040547 RCV000251867 RCV000714083 RCV001086284 RCV001133871 RCV001133872 RCV001133873 RCV001133874 RCV001133870 RCV001798176 RCV004534922 RCV004732463
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)	SNV Germline	Chr2:178576229	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140543	rs_372799151	11 SubmittersRCV000040548 RCV000725637 RCV001080058 RCV001170571 RCV002326749 RCV004534923
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)	SNV Germline	Chr2:178576228	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140548	rs_190421400	9 SubmittersRCV000040549 RCV000246349 RCV000726999 RCV001088941 RCV003149656
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)	SNV Germline	Chr2:178575640	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140578	rs_370771532	8 SubmittersRCV000040556 RCV000184775 RCV000544602 RCV001130762 RCV001133729 RCV001133730 RCV001130763 RCV001130764 RCV002326752
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)	SNV Germline	Chr2:178575455	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283682	rs_72646890	19 SubmittersRCV000040559 RCV000225796 RCV000247488 RCV000768943 RCV001135084 RCV001135085 RCV001135086 RCV001135087 RCV001079505 RCV001135088 RCV004528215
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)	SNV Germline	Chr2:178575384	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J 6 conditions Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140591	rs_397517687	7 SubmittersRCV000040561 RCV000469845 RCV000764320 RCV001311960 RCV001798178
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)	SNV Germline	Chr2:178575317	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283692	rs_55847238	19 SubmittersRCV000040562 RCV000273614 RCV000247125 RCV000270031 RCV000328195 RCV000389086 RCV000362297 RCV000513284 RCV000768941 RCV001082634
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)	SNV Germline	Chr2:178575300	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283702	rs_72646891	15 SubmittersRCV000040564 RCV000227732 RCV000249890 RCV000294398 RCV000337737 RCV000295463 RCV000352767 RCV000390725 RCV001081336 RCV000768940 RCV004534924
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)	SNV Germline	Chr2:178575299	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140595	rs_377220635	9 SubmittersRCV000040565 RCV000727288 RCV001088879 RCV001134966 RCV001134967 RCV001134968 RCV001134969 RCV001134970 RCV002326754 RCV004541172
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)	SNV Germline	Chr2:178775511	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Tip-toe gait Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA283707	rs_56404770	17 SubmittersRCV000040567 RCV000204975 RCV000250798 RCV000265924 RCV000285494 RCV000321007 RCV000345056 RCV000381017 RCV000770129 RCV001353375 RCV002227054 RCV004541173
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)	SNV Germline	Chr2:178574759	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140607	rs_56245285	11 SubmittersRCV000040569 RCV000285577 RCV000284462 RCV000347647 RCV000372899 RCV000376588 RCV000732480 RCV001083091 RCV002326755
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	SNV Germline	Chr2:178574530	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Primary familial dilated cardiomyopathy Cardiomyopathy Cardiovascular phenotype 6 conditions Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261901	rs_397517689	19 SubmittersRCV000184258 RCV000208052 RCV000542963 RCV000623243 RCV000768934 RCV002326756 RCV002490565 RCV003448251 RCV003152675 RCV004734574
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)	SNV Germline	Chr2:178574427	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Premature ventricular contraction TTN-related disorder	Criteria Provided Conflicting Classifications	CA140617	rs_55837610	16 SubmittersRCV000040572 RCV000172643 RCV000252755 RCV000263162 RCV000330895 RCV000315908 RCV000374141 RCV000370274 RCV000768933 RCV001079127 RCV001781363 RCV004534925
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)	SNV Germline	Chr2:178574251	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140622	rs_397517690	7 SubmittersRCV000040573 RCV000725281 RCV001088776 RCV001293079 RCV002326757
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	SNV Germline	Chr2:178574000	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder Tip-toe gait TTN-related myopathy	Criteria Provided Conflicting Classifications	CA283729	rs_56169243	17 SubmittersRCV000040578 RCV000205454 RCV000249434 RCV000300762 RCV000313330 RCV000355560 RCV000393450 RCV000393452 RCV001081981 RCV001170340 RCV004534926 RCV002226451 RCV003993768
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)	SNV Germline	Chr2:178573995	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140631	rs_146767076	14 SubmittersRCV000040579 RCV000172642 RCV001084590 RCV001133158 RCV001133160 RCV001133161 RCV001133157 RCV001133159 RCV002326758
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)	SNV Germline	Chr2:178573951	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140640	rs_201482015	7 SubmittersRCV000040581 RCV000727728 RCV001087461 RCV002326759
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)	SNV Germline	Chr2:178573753	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140644	rs_149763294	12 SubmittersRCV000040582 RCV000285232 RCV000310657 RCV000334264 RCV000396450 RCV000403418 RCV000725033 RCV001083817 RCV001170337 RCV002336144 RCV004541174
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)	SNV Germline	Chr2:178573950	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA140649	rs_200471370	8 SubmittersRCV000040583 RCV000460260 RCV000620443 RCV000723985
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)	SNV Germline	Chr2:178573644	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140653	rs_374712231	5 SubmittersRCV000040584 RCV000558833 RCV001703906
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)	SNV Germline	Chr2:178775386	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140658	rs_397517693	5 SubmittersRCV000040585 RCV000539387 RCV000727443 RCV002362634
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)	SNV Germline	Chr2:178573350	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140664	rs_142874389	16 SubmittersRCV000040587 RCV000172641 RCV000288602 RCV000349884 RCV000343679 RCV000388861 RCV000397203 RCV001080138 RCV002336145 RCV003149657
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)	SNV Germline	Chr2:178573201	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA140669	rs_56201325	20 SubmittersRCV000040588 RCV000118779 RCV000249950 RCV000769952 RCV001083516 RCV001131595 RCV001131997 RCV001131999 RCV001131996 RCV001131998
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)	SNV Germline	Chr2:178572964	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140678	rs_182491843	17 SubmittersRCV000040590 RCV000253827 RCV000264085 RCV000328591 RCV000322850 RCV000377423 RCV000383061 RCV000474900 RCV000769950 RCV001703907
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)	SNV Germline	Chr2:178572307	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait	Criteria Provided Conflicting Classifications	CA140683	rs_55762754	21 SubmittersRCV000040592 RCV000247787 RCV000301041 RCV000314072 RCV000336155 RCV000458685 RCV000396511 RCV000367543 RCV000769945 RCV001083733 RCV002223143
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)	SNV Germline	Chr2:178571605	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Ventricular tachycardia Primary dilated cardiomyopathy 6 conditions Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140696	rs_373527654	13 SubmittersRCV000040598 RCV000621675 RCV000534367 RCV000724394 RCV000852812 RCV001293173 RCV005394232 RCV003486596
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)	SNV Germline	Chr2:178774998	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Ventricular tachycardia Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140701	rs_201284459	15 SubmittersRCV000040600 RCV000172466 RCV000467881 RCV000852931 RCV001131307 RCV001131308 RCV001131309 RCV001131311 RCV001131310 RCV001798179 RCV002362635
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)	SNV Germline	Chr2:178571241	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140708	rs_72646899	12 SubmittersRCV000040601 RCV000288129 RCV000345344 RCV000339683 RCV000397267 RCV000397257 RCV000714090 RCV001082391 RCV002336147 RCV004541175
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)	SNV Germline	Chr2:178571237	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140713	rs_201512527	19 SubmittersRCV000040602 RCV000249030 RCV000471721 RCV000768930 RCV001086359 RCV001128971 RCV001128973 RCV001128972 RCV001128974 RCV001131634 RCV004534927
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)	SNV Germline	Chr2:178571098	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140718	rs_368914555	12 SubmittersRCV000040605 RCV000464020 RCV001093053 RCV001134503 RCV001134502 RCV001134504 RCV001135950 RCV001135951 RCV001171268 RCV001293087 RCV002336148 RCV004534928
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)	SNV Germline	Chr2:178570398	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA140731	rs_397517701	4 SubmittersRCV001703908 RCV001798180 RCV000040610
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)	SNV Germline	Chr2:178570062	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140740	rs_397517703	4 SubmittersRCV000040612 RCV000467480 RCV001534450
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)	SNV Germline	Chr2:178570019	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283771	rs_140350441	15 SubmittersRCV000040613 RCV000233046 RCV000289871 RCV000304997 RCV000362069 RCV000390049 RCV000397350 RCV000619539 RCV001082582 RCV000768924
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)	SNV Germline	Chr2:178569459	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G TTN-related disorder Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140756	rs_201095164	10 SubmittersRCV000040618 RCV000172252 RCV000303107 RCV000271372 RCV000306562 RCV000365850 RCV000400010 RCV001085393 RCV003448252 RCV004541177 RCV003486598
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)	SNV Germline	Chr2:178569410	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283786	rs_55696153	18 SubmittersRCV000040620 RCV000234701 RCV000247729 RCV000277480 RCV000269503 RCV000364093 RCV000367544 RCV000313845 RCV001081795 RCV000768922
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)	SNV Germline	Chr2:178569059	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA140764	rs_375398118	9 SubmittersRCV000040623 RCV000620778 RCV000714097 RCV001088371 RCV001133863 RCV001133864 RCV001133865 RCV001133866 RCV001133862
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)	SNV Germline	Chr2:178568927	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140774	rs_55857909	19 SubmittersRCV000040625 RCV000618047 RCV000714098 RCV001086724 RCV001130891 RCV001130893 RCV001130895 RCV001130892 RCV001130894 RCV003486599
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)	SNV Germline	Chr2:178568319	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140792	rs_186681106	15 SubmittersRCV000040631 RCV000264343 RCV000324153 RCV000359085 RCV000360289 RCV000389951 RCV000476610 RCV000768918 RCV001081320 RCV002336150 RCV004534929
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)	SNV Germline	Chr2:178568316	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA140797	rs_397517712	7 SubmittersRCV000040632 RCV000526838 RCV001574137 RCV002504912
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)	SNV Germline	Chr2:178568284	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA140801	rs_376814602	11 SubmittersRCV000040633 RCV000172251 RCV000768917 RCV001081540 RCV002336151 RCV005394233
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	SNV Germline	Chr2:178774107	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA283801	rs_75031300	16 SubmittersRCV000040635 RCV000252219 RCV000472312 RCV001092342 RCV001131193 RCV001131190 RCV001131191 RCV001131192 RCV000770124 RCV001131194
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)	SNV Germline	Chr2:178567240	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Premature ventricular contraction Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140814	rs_72648205	15 SubmittersRCV000040638 RCV000247997 RCV000643181 RCV000726516 RCV001134832 RCV001134833 RCV001134834 RCV001134830 RCV001134831 RCV001781364 RCV003149658 RCV004534931
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)	SNV Germline	Chr2:178567152	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA140819	rs_370367786	7 SubmittersRCV000040639 RCV001798181 RCV002336153 RCV002504913
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)	SNV Germline	Chr2:178566906	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA140828	rs_72648206	15 SubmittersRCV000040642 RCV000172633 RCV000296264 RCV000317619 RCV000348884 RCV000388436 RCV000397192 RCV000467348 RCV000620048 RCV000852500 RCV005625239
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)	SNV Germline	Chr2:178566813	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Tibial muscular dystrophy Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283828	rs_56044609	18 SubmittersRCV000040645 RCV000228748 RCV000248962 RCV001132349 RCV000769940 RCV001132351 RCV001132352 RCV001573281 RCV001132348 RCV001132350 RCV004541178
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)	SNV Germline	Chr2:178773995	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140833	rs_374509926	6 SubmittersRCV000040646 RCV000725211 RCV001088352 RCV002362636
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)	SNV Germline	Chr2:178565861	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140848	rs_199875474	15 SubmittersRCV000040654 RCV000249905 RCV000302475 RCV000306368 RCV000359525 RCV000342552 RCV000399521 RCV000465955 RCV001170789 RCV001529926
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)	SNV Germline	Chr2:178565707	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140856	rs_369941201	10 SubmittersRCV000040656 RCV000154047 RCV000242849 RCV000471525 RCV000852499
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)	SNV Germline	Chr2:178565149	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140873	rs_397517719	10 SubmittersRCV000040663 RCV000617992 RCV000726121 RCV001079917 RCV001132749 RCV001132747 RCV001132748 RCV001136159 RCV001136160 RCV001798182
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)	SNV Germline	Chr2:178565027	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA283874	rs_72648212	15 SubmittersRCV000040665 RCV000620096 RCV000726275 RCV001080788 RCV001131747 RCV001129078 RCV001170787 RCV001129079 RCV001131746 RCV001131748
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)	SNV Germline	Chr2:178564668	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140878	rs_397517720	3 SubmittersRCV000040666 RCV000524889 RCV000617267
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)	SNV Germline	Chr2:178564600	Likely pathogenic	Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA261909	rs_397517721	3 SubmittersRCV000040667 RCV001290682 RCV001378905
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)	SNV Germline	Chr2:178564574	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Hypertrophic cardiomyopathy 2	Criteria Provided Conflicting Classifications	CA283879	rs_56181243	20 SubmittersRCV000040669 RCV000243142 RCV000289639 RCV000311788 RCV000343025 RCV000392160 RCV000401208 RCV000756835 RCV000768912 RCV001083853 RCV004528221 RCV004595900
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)	SNV Germline	Chr2:178564461	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140891	rs_368443217	11 SubmittersRCV000040671 RCV000727800 RCV000643828 RCV001170785 RCV002345315 RCV004541180
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)	SNV Germline	Chr2:178564276	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140895	rs_372784067	4 SubmittersRCV000040673 RCV000643291 RCV001697136
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)	SNV Germline	Chr2:178564233	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140899	rs_55850344	12 SubmittersRCV000040674 RCV000176835 RCV000227596 RCV000415094 RCV000619262 RCV000768910
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)	SNV Germline	Chr2:178564071	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA140904	rs_368023868	5 SubmittersRCV000040676 RCV002345316 RCV003137569 RCV002477124
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)	SNV Germline	Chr2:178564029	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140913	rs_145373396	9 SubmittersRCV000040678 RCV000619273 RCV000456789 RCV001811298 RCV004541182
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)	SNV Germline	Chr2:178563912	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140918	rs_376037252	7 SubmittersRCV000040679 RCV000265407 RCV000300600 RCV000304128 RCV000361272 RCV000391590 RCV000726237 RCV002345317
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)	SNV Germline	Chr2:178563730	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140922	rs_201958805	11 SubmittersRCV000040681 RCV000300172 RCV000322064 RCV000357436 RCV000353764 RCV000456607 RCV000768905 RCV000787943 RCV000997376 RCV002345318
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)	SNV Germline	Chr2:178563643	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA140926	rs_201158906	20 SubmittersRCV000040682 RCV000184884 RCV000620912 RCV000768904 RCV001135727 RCV001135728 RCV001135729 RCV001086569 RCV001135730 RCV001135731 RCV004534933
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)	SNV Germline	Chr2:178563572	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140931	rs_56264840	21 SubmittersRCV000040684 RCV000082434 RCV000277428 RCV000280746 RCV000316062 RCV000369656 RCV000373068 RCV000620318 RCV000852805 RCV001082278 RCV001798183
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)	SNV Germline	Chr2:178563441	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140936	rs_55634791	17 SubmittersRCV000040686 RCV000267329 RCV000302688 RCV000327142 RCV000362027 RCV000363058 RCV000724925 RCV001427304 RCV001798184 RCV002345320
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)	SNV Germline	Chr2:178562961	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140941	rs_201896662	11 SubmittersRCV000040691 RCV000172628 RCV000252102 RCV000476606 RCV001130323 RCV001130325 RCV001130327 RCV001130324 RCV001130326 RCV001170783
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)	SNV Germline	Chr2:178562851	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140946	rs_371788070	14 SubmittersRCV000040692 RCV000171313 RCV000466706 RCV000769925 RCV001330312 RCV002345321 RCV004734575
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)	SNV Germline	Chr2:178562833	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140951	rs_184643087	10 SubmittersRCV000040693 RCV000725532 RCV001087252 RCV002345322 RCV003149659 RCV004534934
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)	SNV Germline	Chr2:178562514	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype 6 conditions TTN-related disorder	Criteria Provided Conflicting Classifications	CA140964	rs_200775919	12 SubmittersRCV000040697 RCV000172229 RCV000283706 RCV000320147 RCV000341923 RCV000372050 RCV000380228 RCV000559104 RCV000620676 RCV000764310 RCV004541183
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)	SNV Germline	Chr2:178562262	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Brugada syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140968	rs_148067743	7 SubmittersRCV000040699 RCV000293712 RCV000335686 RCV000336932 RCV000375171 RCV000392066 RCV000475754 RCV000727431 RCV000852498 RCV002345323
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)	SNV Germline	Chr2:178773345	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA140973	rs_397517725	8 SubmittersRCV000040700 RCV000172460 RCV000242133 RCV000287099 RCV000309186 RCV000339655 RCV000347654 RCV000463035 RCV000403204
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)	SNV Germline	Chr2:178561869	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140979	rs_200450022	15 SubmittersRCV000040701 RCV000172224 RCV001084560 RCV001130623 RCV001130624 RCV001130625 RCV001130627 RCV001130626 RCV002345324 RCV003149660 RCV004734576
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)	SNV Germline	Chr2:178561684	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140988	rs_397517727	5 SubmittersRCV000040704 RCV000907241 RCV001798185 RCV003137570
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)	SNV Germline	Chr2:178561579	Conflicting classifications of pathogenicity	not specified Primary familial dilated cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141001	rs_397517729	5 SubmittersRCV000040708 RCV005237461 RCV004991995 RCV004819212 RCV005222726
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)	SNV Germline	Chr2:178561436	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141005	rs_397517730	5 SubmittersRCV000040709 RCV000274794 RCV000332698 RCV000318173 RCV000375092 RCV000387249 RCV000726293 RCV001087454 RCV002345326
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)	SNV Germline	Chr2:178561209	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Congestive heart failure Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141009	rs_201674674	16 SubmittersRCV000040710 RCV000176789 RCV000531860 RCV000852801 RCV002354203 RCV005025095
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)	SNV Germline	Chr2:178561155	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141014	rs_200843338	15 SubmittersRCV000040711 RCV000247193 RCV000305618 RCV000335949 RCV000341787 RCV000406632 RCV000391984 RCV000477567 RCV000726282 RCV001170551
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)	SNV Germline	Chr2:178561092	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141018	rs_397517731	7 SubmittersRCV000040712 RCV000227162 RCV000724198 RCV001798186 RCV002354204
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)	SNV Germline	Chr2:178560726	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA141026	rs_202040332	9 SubmittersRCV000040715 RCV000769914 RCV001080928 RCV001134723 RCV001134724 RCV001134725 RCV001134726 RCV001134727 RCV002354205 RCV003883486
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)	SNV Germline	Chr2:178560387	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141035	rs_201688358	5 SubmittersRCV000040717 RCV000725085 RCV000622216
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)	SNV Germline	Chr2:178560363	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141039	rs_375667028	6 SubmittersRCV000040718 RCV000832933 RCV003486602
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)	SNV Germline	Chr2:178560153	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA141043	rs_397517733	4 SubmittersRCV000040719 RCV000643724 RCV002354207 RCV003137571
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)	SNV Germline	Chr2:178559661	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141051	rs_200709344	10 SubmittersRCV000040723 RCV000232855 RCV000768877 RCV000997368 RCV002354208
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)	SNV Germline	Chr2:178559606	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141055	rs_72648226	12 SubmittersRCV000040724 RCV000724569 RCV001081370 RCV001129501 RCV001129502 RCV001129503 RCV001129500 RCV001129499 RCV001798187 RCV002354209 RCV004541184
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)	SNV Germline	Chr2:178559449	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141059	rs_201290358	11 SubmittersRCV000040725 RCV000172219 RCV000291684 RCV000307010 RCV000346476 RCV000393775 RCV000402859 RCV001081280 RCV001170545 RCV002354210
NM_001267550.2(TTN):c.86821+2T>A	SNV Germline	Chr2:178559309	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype 6 conditions Autosomal recessive titinopathy TTN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261913	rs_397517735	14 SubmittersRCV000040727 RCV000184278 RCV000768876 RCV000627778 RCV003389235 RCV002354211 RCV002490567 RCV005055544 RCV004541185
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)	SNV Germline	Chr2:178558549	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141064	rs_397517736	5 SubmittersRCV000040728 RCV000727331 RCV001490570 RCV002354212
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)	SNV Germline	Chr2:178558009	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141075	rs_369444690	4 SubmittersRCV000040731 RCV000727242 RCV001078979 RCV003162349
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)	SNV Germline	Chr2:178557987	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141079	rs_375198596	9 SubmittersRCV000040732 RCV000725253 RCV000643680 RCV001798188 RCV002354213
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	SNV Germline	Chr2:178557942	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Primary dilated cardiomyopathy Cardiomyopathy Tip-toe gait	Criteria Provided Conflicting Classifications	CA141084	rs_72648227	21 SubmittersRCV000040733 RCV000172625 RCV000618830 RCV001086492 RCV001129291 RCV001129292 RCV001131993 RCV001131994 RCV001131995 RCV001293177 RCV001798189 RCV002227443
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)	SNV Germline	Chr2:178557731	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141089	rs_201831707	11 SubmittersRCV000040734 RCV000225888 RCV000244493 RCV000726191 RCV001129285 RCV001136271 RCV001136272 RCV001136273 RCV001136274 RCV001798190
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)	SNV Germline	Chr2:178557454	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141102	rs_141624266	20 SubmittersRCV000040738 RCV000118785 RCV000313315 RCV000307938 RCV000370289 RCV000403035 RCV000397868 RCV001080518 RCV001170318 RCV002354214
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)	SNV Germline	Chr2:178557126	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141113	rs_73036368	10 SubmittersRCV000040741 RCV000118786 RCV000476079 RCV001798191 RCV002354215
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)	SNV Germline	Chr2:178557064	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141118	rs_183013408	11 SubmittersRCV000040742 RCV000270510 RCV000327903 RCV000334082 RCV000362829 RCV000384731 RCV000475243 RCV000618175 RCV000725444 RCV001798192
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)	SNV Germline	Chr2:178556971	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141123	rs_55940667	5 SubmittersRCV000040743 RCV000172214 RCV000245043 RCV001086668
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)	SNV Germline	Chr2:178555065	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141128	rs_146181116	23 SubmittersRCV000040746 RCV000242549 RCV000262196 RCV000266709 RCV000319678 RCV000354841 RCV000367586 RCV000471049 RCV000768870 RCV000852799 RCV001081488
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)	SNV Germline	Chr2:178555000	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141137	rs_200899806	13 SubmittersRCV000040748 RCV000723789 RCV001170314 RCV001132651 RCV001132652 RCV001132653 RCV001132654 RCV001132655 RCV001084841 RCV002354217 RCV004534935
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)	SNV Germline	Chr2:178554974	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA141142	rs_371612136	14 SubmittersRCV000040750 RCV000535039 RCV000618466 RCV000768869 RCV001131625 RCV001131626 RCV001131627 RCV001131628 RCV001132650 RCV001796719 RCV004541188
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)	SNV Germline	Chr2:178554626	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141150	rs_111727915	12 SubmittersRCV000040752 RCV000282040 RCV000348715 RCV000352269 RCV000374104 RCV000386956 RCV000725034 RCV001085079 RCV001170313 RCV002354219 RCV004534937
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)	SNV Germline	Chr2:178553975	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141155	rs_376289479	9 SubmittersRCV000040754 RCV000867974 RCV001134365 RCV001134366 RCV001134364 RCV001135832 RCV001135831 RCV001703911 RCV002354220 RCV004541189
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)	SNV Germline	Chr2:178553579	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141163	rs_72648238	19 SubmittersRCV000040758 RCV000172208 RCV001082145 RCV001134228 RCV001134225 RCV001134226 RCV001134227 RCV001134229 RCV001798193 RCV002362637 RCV004734578
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)	SNV Germline	Chr2:178552953	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Conflicting Classifications	CA141176	rs_397517746	9 SubmittersRCV000040762 RCV000458878 RCV000733290 RCV003147329 RCV002362639 RCV004558291
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)	SNV Germline	Chr2:178552364	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141188	rs_149567378	21 SubmittersRCV000040766 RCV000082444 RCV000269727 RCV000320246 RCV000310741 RCV000364179 RCV000365525 RCV000617583 RCV000852796 RCV001083905 RCV001798194
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)	SNV Germline	Chr2:178552276	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141193	rs_370479059	13 SubmittersRCV000040768 RCV000251412 RCV000727784 RCV000769888 RCV001083455
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	SNV Germline	Chr2:178552074	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related myopathy	Criteria Provided Conflicting Classifications	CA141197	rs_150430592	21 SubmittersRCV000040770 RCV000082445 RCV000286969 RCV000327591 RCV000278620 RCV000376846 RCV000373393 RCV000618823 RCV000852794 RCV001083184 RCV001798195 RCV003993769
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)	SNV Germline	Chr2:178551184	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA284025	rs_193022702	18 SubmittersRCV000040776 RCV000234492 RCV000769884 RCV001133860 RCV001085113 RCV001133857 RCV001133858 RCV001133859 RCV001133861 RCV002362641
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)	SNV Germline	Chr2:178551106	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141214	rs_145133144	12 SubmittersRCV000040777 RCV000726356 RCV001088287 RCV001130186 RCV001130184 RCV001130882 RCV001130183 RCV001130185 RCV002362642 RCV004541190
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)	SNV Germline	Chr2:178550237	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141227	rs_182549226	11 SubmittersRCV000040781 RCV000307351 RCV000294400 RCV000359863 RCV000347053 RCV000403395 RCV000723853 RCV001081378 RCV002362643 RCV003149661 RCV004541191
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)	SNV Germline	Chr2:178550217	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Distal myopathy	Criteria Provided Conflicting Classifications	CA141232	rs_200854704	11 SubmittersRCV000040782 RCV000172620 RCV000282263 RCV000295443 RCV000316301 RCV000352604 RCV000373589 RCV000457779 RCV002362644 RCV005625240
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)	SNV Germline	Chr2:178550073	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141236	rs_148617456	20 SubmittersRCV000040783 RCV000082447 RCV000621123 RCV000852791 RCV001082275 RCV001130053 RCV001135075 RCV001135076 RCV001135077 RCV001798197 RCV001135074
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)	SNV Germline	Chr2:178549680	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141246	rs_201400267	12 SubmittersRCV000040787 RCV000172200 RCV000472772 RCV001134955 RCV001134952 RCV001134953 RCV001134954 RCV001134956 RCV003486607 RCV002354221 RCV005394234
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	SNV Germline	Chr2:178549450	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Supraventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait TTN-related myopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141251	rs_72648247	23 SubmittersRCV000040789 RCV000082448 RCV000247505 RCV000290790 RCV000852789 RCV001083918 RCV001132527 RCV001132528 RCV001798198 RCV002227930 RCV003993770 RCV004534939
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)	SNV Germline	Chr2:178549293	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141256	rs_201019681	9 SubmittersRCV000040791 RCV000643343 RCV000726970 RCV001129835 RCV001129836 RCV001129837 RCV001129838 RCV001129839 RCV002362645 RCV003486608
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)	SNV Germline	Chr2:178549175	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA141261	rs_397517755	9 SubmittersRCV000040793 RCV000226810 RCV002362646 RCV001698952
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)	SNV Germline	Chr2:178549089	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141265	rs_77968867	17 SubmittersRCV000040794 RCV000768860 RCV000714120 RCV000852788 RCV001082181 RCV001132438 RCV001129729 RCV001132439 RCV001132436 RCV001132437 RCV002362647
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)	SNV Germline	Chr2:178548844	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141274	rs_397517756	11 SubmittersRCV000040797 RCV000464223 RCV000726117 RCV002362648 RCV005394235
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)	SNV Germline	Chr2:178548259	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141278	rs_202096200	8 SubmittersRCV000040800 RCV000172195 RCV001087420 RCV002371845
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)	SNV Germline	Chr2:178547726	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA284075	rs_200173934	18 SubmittersRCV000040805 RCV000233211 RCV000295092 RCV000350053 RCV000345296 RCV000396326 RCV000389462 RCV000768857 RCV000622010 RCV001086039
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)	SNV Germline	Chr2:178546805	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA284085	rs_376539252	12 SubmittersRCV000040810 RCV000328211 RCV000288131 RCV000332146 RCV000367671 RCV000382848 RCV000768855 RCV000726857 RCV001085173 RCV002362653
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)	SNV Germline	Chr2:178546799	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy	Criteria Provided Conflicting Classifications	CA141305	rs_397517759	5 SubmittersRCV000040811 RCV000247537 RCV000277148 RCV000298221 RCV000356392 RCV000353169 RCV000390504 RCV004786313
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)	SNV Germline	Chr2:178546485	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA284090	rs_72648255	19 SubmittersRCV000040813 RCV000228324 RCV000290312 RCV000341684 RCV000345101 RCV000402372 RCV000397865 RCV000621726 RCV001086327 RCV001171238
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)	SNV Germline	Chr2:178546480	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141313	rs_72648256	16 SubmittersRCV000040814 RCV000252550 RCV000513556 RCV001082680 RCV000768854 RCV001131865 RCV001132851 RCV001131866 RCV001131867 RCV001131864 RCV004534941
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)	SNV Germline	Chr2:178546253	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141318	rs_2288326	6 SubmittersRCV000040817 RCV000172188 RCV000268106 RCV000272165 RCV000325497 RCV000360898 RCV000382966 RCV001083436
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)	SNV Germline	Chr2:178545994	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141327	rs_142525903	13 SubmittersRCV000040821 RCV000172617 RCV000620427 RCV001079500 RCV001131616 RCV001131617 RCV001131618 RCV001131620 RCV001131619 RCV001170761 RCV004534943
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)	SNV Germline	Chr2:178545992	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided TTN-related disorder Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA284115	rs_368243641	13 SubmittersRCV000040822 RCV000244797 RCV000467863 RCV001128957 RCV001131613 RCV001131615 RCV001128956 RCV001131614 RCV001529974 RCV004534944 RCV005890216
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)	SNV Germline	Chr2:178545939	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141332	rs_191484894	21 SubmittersRCV000040824 RCV000082453 RCV000620998 RCV000852787 RCV001134487 RCV001082921 RCV001135944 RCV001135945 RCV001135946 RCV001135947 RCV001798200
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)	SNV Germline	Chr2:178545457	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Cardiomyopathy Ventricular fibrillation Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA141349	rs_72648263	20 SubmittersRCV000040830 RCV000172615 RCV000270075 RCV000292373 RCV000327509 RCV000349608 RCV000380825 RCV000621105 RCV000769875 RCV000852785 RCV001085084 RCV004534945
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)	SNV Germline	Chr2:178544004	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA141358	rs_375640847	8 SubmittersRCV000040833 RCV000643737 RCV000725040 RCV000764305
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)	SNV Germline	Chr2:178769738	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141363	rs_397517763	7 SubmittersRCV000040834 RCV000185204 RCV000226116 RCV001170097 RCV002371846
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)	SNV Germline	Chr2:178543910	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141370	rs_376532382	11 SubmittersRCV000040836 RCV000286881 RCV000281420 RCV000341232 RCV000341884 RCV000390449 RCV000619267 RCV000724899 RCV001086828
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)	SNV Germline	Chr2:178543892	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141374	rs_369626133	11 SubmittersRCV000040837 RCV000272185 RCV000307689 RCV000327286 RCV000362345 RCV000367993 RCV000621254 RCV000724900 RCV001086829
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)	SNV Germline	Chr2:178543858	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided 6 conditions Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141378	rs_376039623	8 SubmittersRCV000040838 RCV000643268 RCV000767014 RCV002504916 RCV004018903 RCV004734579
NM_001267550.2(TTN):c.96904+4T>C	SNV Germline	Chr2:178543065	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Skeletal dysplasia	Criteria Provided Conflicting Classifications	CA141383	rs_373514079	12 SubmittersRCV000040841 RCV000415631 RCV000415660 RCV000537275 RCV000727795 RCV001133976 RCV001135491 RCV001133977 RCV001135492 RCV002371847 RCV005625241
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)	SNV Germline	Chr2:178542936	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141384	rs_72648266	14 SubmittersRCV000040842 RCV000466836 RCV001133971 RCV001133972 RCV001133973 RCV001133974 RCV001133975 RCV001170753 RCV001528947 RCV002371848
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)	SNV Germline	Chr2:178768898	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G TTN-related disorder Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141401	rs_72647885	17 SubmittersRCV000040847 RCV000082457 RCV001084542 RCV001133642 RCV001133644 RCV001133640 RCV001133641 RCV001133643 RCV004534948 RCV003486612 RCV002444495
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)	SNV Germline	Chr2:178542755	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141408	rs_202064385	16 SubmittersRCV000040848 RCV000185032 RCV000242748 RCV001085595 RCV001130310 RCV001135351 RCV001135352 RCV001135353 RCV001135354 RCV001798203
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)	SNV Germline	Chr2:178542499	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141421	rs_373206096	14 SubmittersRCV000040851 RCV000185035 RCV001082096 RCV001130874 RCV001130875 RCV001130877 RCV001130876 RCV001130878 RCV002371849 RCV004734580
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)	SNV Germline	Chr2:178542338	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141434	rs_397517770	5 SubmittersRCV000040854 RCV000726674 RCV001088882
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)	SNV Germline	Chr2:178541335	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141439	rs_397517771	5 SubmittersRCV000040856 RCV000266897 RCV000324467 RCV000297925 RCV000354697 RCV000407527 RCV000726291 RCV001088537 RCV002362658
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)	SNV Germline	Chr2:178541317	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA141448	rs_55704830	16 SubmittersRCV000040858 RCV000172611 RCV000248871 RCV000291082 RCV000282930 RCV000322814 RCV000379720 RCV000383122 RCV000769863 RCV001086482 RCV001293119
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)	SNV Germline	Chr2:178540307	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141453	rs_397517772	9 SubmittersRCV000040860 RCV000277556 RCV000303221 RCV000308086 RCV000369817 RCV000393698 RCV000619770 RCV000861079 RCV001575156 RCV003149662
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)	SNV Germline	Chr2:178539823	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA141465	rs_72648272	23 SubmittersRCV000040865 RCV000172610 RCV000298721 RCV000338814 RCV000341836 RCV000387355 RCV000401107 RCV000620090 RCV000768849 RCV001081784 RCV004534949 RCV005890217
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)	SNV Germline	Chr2:178539822	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141470	rs_397517775	6 SubmittersRCV000040866 RCV000730013 RCV002362660 RCV002504917
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)	SNV Germline	Chr2:178539771	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Hypertrophic cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA141474	rs_72648273	27 SubmittersRCV000040867 RCV000118794 RCV000248345 RCV000260558 RCV000264048 RCV000321435 RCV000322722 RCV000361061 RCV000354955 RCV000768847 RCV001079943 RCV002222153 RCV004534950
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)	SNV Germline	Chr2:178539675	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype Long QT syndrome Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA284164	rs_149001703	23 SubmittersRCV000040869 RCV000419770 RCV000768846 RCV000621374 RCV000852783 RCV001129725 RCV001132433 RCV001132434 RCV001132435 RCV001082901 RCV001129726
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)	SNV Germline	Chr2:178768759	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA141480	rs_11900987	19 SubmittersRCV000040871 RCV000618556 RCV000457548 RCV000769105 RCV001130675 RCV001130677 RCV001130674 RCV001293102 RCV001130676 RCV001130678 RCV001703913 RCV004534951
NM_001267550.2(TTN):c.98683+7G>C	SNV Germline	Chr2:178539375	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA141487	rs_141150066	10 SubmittersRCV000040874 RCV000542024 RCV001129594 RCV001129595 RCV001129596 RCV001134625 RCV001134626 RCV001529114
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)	SNV Germline	Chr2:178539209	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Intellectual disability	Criteria Provided Conflicting Classifications	CA141489	rs_368877793	15 SubmittersRCV000040877 RCV000622118 RCV000725120 RCV000525675 RCV001170525 RCV005621863
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)	SNV Germline	Chr2:178539126	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141494	rs_200544701	8 SubmittersRCV000040878 RCV000864110 RCV001132222 RCV001132224 RCV001132221 RCV001132223 RCV001132220 RCV001561054 RCV003486614 RCV004541194
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)	SNV Germline	Chr2:178538798	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA284189	rs_78814506	12 SubmittersRCV000040880 RCV000226010 RCV000246674 RCV001080938 RCV001129391 RCV001132108 RCV001132109 RCV001132110 RCV001132107 RCV001170523
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)	SNV Germline	Chr2:178537867	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141509	rs_371656672	14 SubmittersRCV000040885 RCV000725601 RCV001079868 RCV001798206 RCV002371851
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)	SNV Germline	Chr2:178537773	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy 9	Criteria Provided Conflicting Classifications	CA141513	rs_371531675	7 SubmittersRCV000040886 RCV000226662 RCV000725376 RCV003149663 RCV005051744
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His)	SNV Germline	Chr2:178537539	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA141517	rs_369081242	2 SubmittersRCV000040887 RCV001697105
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)	SNV Germline	Chr2:178537208	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141530	rs_72648278	14 SubmittersRCV000040890 RCV000242155 RCV000206544 RCV000301140 RCV000297253 RCV000367561 RCV000354426 RCV000390707 RCV000390934 RCV000725311 RCV001798207 RCV004534953
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)	SNV Germline	Chr2:178537118	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy See cases	Criteria Provided Conflicting Classifications	CA141535	rs_56061641	17 SubmittersRCV000040891 RCV000242557 RCV000487595 RCV000549681 RCV001131859 RCV001131860 RCV001131861 RCV001131863 RCV001131862 RCV001196003
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)	SNV Germline	Chr2:178536330	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141540	rs_397517783	10 SubmittersRCV000040896 RCV000725603 RCV002477125 RCV002381321
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)	SNV Germline	Chr2:178768029	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA141544	rs_373366126	6 SubmittersRCV000040899 RCV000468674 RCV001133510 RCV001133512 RCV001135007 RCV001133509 RCV001133511 RCV001703915
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)	SNV Germline	Chr2:178535403	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Atrial fibrillation Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related myopathy	Criteria Provided Conflicting Classifications	CA231615	rs_56273463	23 SubmittersRCV000040902 RCV000118798 RCV000251517 RCV000299708 RCV000349947 RCV000334610 RCV000404458 RCV000407040 RCV000852781 RCV001083282 RCV001170520 RCV003993771
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)	SNV Germline	Chr2:178535370	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA141552	rs_201554140	15 SubmittersRCV000040903 RCV000226035 RCV000620304 RCV001081693 RCV001128953 RCV001128955 RCV001128954 RCV001131611 RCV001131612 RCV001170519 RCV005625242
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)	SNV Germline	Chr2:178767871	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Atrial fibrillation Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA141561	rs_72647894	18 SubmittersRCV000040905 RCV000082466 RCV000247307 RCV000282222 RCV000286768 RCV000341793 RCV000317271 RCV000371851 RCV000852925 RCV000769103 RCV001084199 RCV004534955 RCV005890222
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	SNV Germline	Chr2:178534950	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Supraventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tip-toe gait	Criteria Provided Conflicting Classifications	CA231620	rs_34924609	24 SubmittersRCV000040908 RCV000246329 RCV000769857 RCV000713950 RCV000852780 RCV001079468 RCV001131495 RCV001131492 RCV001131493 RCV001134484 RCV001131494 RCV002227931
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)	SNV Germline	Chr2:178534849	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Ventricular tachycardia	Criteria Provided Conflicting Classifications	CA284242	rs_55886356	17 SubmittersRCV000040910 RCV000233206 RCV000245404 RCV000289503 RCV000344458 RCV000341092 RCV000388677 RCV000393835 RCV000769856 RCV001085578 RCV000852779
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)	SNV Germline	Chr2:178534724	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141574	rs_55669553	22 SubmittersRCV000040912 RCV000082468 RCV000621955 RCV000852778 RCV001131352 RCV001131354 RCV001082939 RCV001131350 RCV001131351 RCV001131353 RCV001798210
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)	SNV Germline	Chr2:178534512	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141584	rs_144963736	19 SubmittersRCV000040914 RCV000713952 RCV000769853 RCV000852777 RCV001084745 RCV001128723 RCV001128724 RCV001128725 RCV001128726 RCV001135717 RCV002390171
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)	SNV Germline	Chr2:178534459	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141589	rs_376894729	8 SubmittersRCV000040915 RCV000306383 RCV000350714 RCV000349889 RCV000403010 RCV000407697 RCV000862227 RCV001535414 RCV002390172
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)	SNV Germline	Chr2:178534425	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141593	rs_200237973	11 SubmittersRCV000040916 RCV000172607 RCV000246004 RCV000279530 RCV000280823 RCV000316166 RCV000375400 RCV000378875 RCV000466398
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)	SNV Germline	Chr2:178534187	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141597	rs_397517786	10 SubmittersRCV000040918 RCV000172161 RCV000542073 RCV002390173
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)	SNV Germline	Chr2:178766597	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141602	rs_140664731	11 SubmittersRCV000040920 RCV000786253 RCV001088345 RCV002371852 RCV004534956
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)	SNV Germline	Chr2:178534020	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141609	rs_56347248	21 SubmittersRCV000040921 RCV000082470 RCV000622061 RCV000852775 RCV001130525 RCV001130527 RCV001130524 RCV001080039 RCV001130526 RCV001130528
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)	SNV Germline	Chr2:178533878	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141618	rs_372716177	10 SubmittersRCV000040923 RCV000462618 RCV001293170 RCV001703916 RCV002390174 RCV003149664
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	SNV Germline	Chr2:178533738	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Arrhythmogenic right ventricular dysplasia 9 Cardiomyopathy Hypertrophic cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype TTN-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA141622	rs_72629783	19 SubmittersRCV000040925 RCV000172604 RCV000465722 RCV000491304 RCV000769849 RCV001293056 RCV001333490 RCV002390175 RCV004734584 RCV005394236
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)	SNV Germline	Chr2:178533666	Likely pathogenic	Primary dilated cardiomyopathy	Criteria Provided Single Submitter	CA261918	rs_397517787	1 SubmittersRCV000040926
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)	SNV Germline	Chr2:178533323	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141626	rs_192001910	13 SubmittersRCV000040927 RCV000619030 RCV000725429 RCV001082764 RCV001135484 RCV001135485 RCV001135486 RCV001135487 RCV001170292 RCV001135488
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)	SNV Germline	Chr2:178533252	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141631	rs_72629785	16 SubmittersRCV000040928 RCV000768834 RCV000710275 RCV001133967 RCV001133969 RCV001081893 RCV001133968 RCV001133970 RCV001135483 RCV002390176
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)	SNV Germline	Chr2:178532927	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Tibial muscular dystrophy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141643	rs_55945684	14 SubmittersRCV000040931 RCV000245149 RCV000264463 RCV000263262 RCV000322000 RCV000316083 RCV000355491 RCV000361393 RCV000725310 RCV001083917 RCV001798211 RCV004534957
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)	SNV Germline	Chr2:178532669	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA141648	rs_397517788	6 SubmittersRCV000040933 RCV000475599 RCV001170290 RCV001576785
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)	SNV Germline	Chr2:178532641	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided TTN-related disorder Cardiomyopathy	Criteria Provided Conflicting Classifications	CA284281	rs_199714102	19 SubmittersRCV000040934 RCV000246198 RCV000312978 RCV000273242 RCV000314269 RCV000371402 RCV000365348 RCV000463236 RCV001529975 RCV004528224 RCV001798212
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)	SNV Germline	Chr2:178532364	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA141656	rs_185683410	17 SubmittersRCV000040936 RCV000082473 RCV000241855 RCV001084033 RCV000768829 RCV001135202 RCV001135203 RCV001135205 RCV001135204 RCV001135206 RCV004541196
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)	SNV Germline	Chr2:178532251	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA141661	rs_181679744	11 SubmittersRCV000040937 RCV000725850 RCV001087200 RCV001798213 RCV002399391 RCV005890223
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)	SNV Germline	Chr2:178532250	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA141665	rs_190565627	13 SubmittersRCV000040938 RCV000291584 RCV000292859 RCV000344090 RCV000350073 RCV000388022 RCV000474765 RCV000618932 RCV001703917 RCV004537120
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)	SNV Germline	Chr2:178532230	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA141670	rs_397517790	6 SubmittersRCV000040940 RCV002399392 RCV002513571 RCV006445482
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)	SNV Germline	Chr2:178766410	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141678	rs_202011992	11 SubmittersRCV000040942 RCV000172455 RCV000544021 RCV000769101 RCV002371853
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)	SNV Germline	Chr2:178532055	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA289122	rs_55866005	25 SubmittersRCV000040943 RCV000118804 RCV000250530 RCV000768826 RCV001080684 RCV001135062 RCV001135064 RCV001135061 RCV001135063 RCV001135065 RCV004528225
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)	SNV Germline	Chr2:178766383	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141684	rs_397517791	2 SubmittersRCV000040945 RCV002371854
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)	SNV Germline	Chr2:178531846	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA284296	rs_56375087	19 SubmittersRCV000040946 RCV000233825 RCV000245559 RCV000272409 RCV000312358 RCV000328153 RCV000366919 RCV000364115 RCV000768825 RCV001529921
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)	SNV Germline	Chr2:178531488	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA141711	rs_200378865	15 SubmittersRCV000040952 RCV000228793 RCV000275138 RCV000330183 RCV000333536 RCV000369582 RCV000383536 RCV000620982 RCV001081694 RCV001170285 RCV005625243
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)	SNV Germline	Chr2:178531432	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA141716	rs_371075036	13 SubmittersRCV000040954 RCV000291115 RCV000306236 RCV000342687 RCV000386216 RCV000406153 RCV000474673 RCV000622179 RCV001170284 RCV001703919
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)	SNV Germline	Chr2:178764766	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA141720	rs_55634230	5 SubmittersRCV000040955 RCV000230763 RCV002381322 RCV001697033
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)	SNV Germline	Chr2:178531387	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA284311	rs_55938627	16 SubmittersRCV000040956 RCV000261411 RCV000316683 RCV000295377 RCV000374814 RCV000350411 RCV000488073 RCV000621052 RCV001084222 RCV000768822 RCV004528226
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)	SNV Germline	Chr2:178531355	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA344687	rs_397517795	7 SubmittersRCV000040957 RCV000204885 RCV002408536 RCV003137574 RCV004537121
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)	SNV Germline	Chr2:178531199	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141726	rs_200782068	7 SubmittersRCV000040959 RCV000172151 RCV001132331 RCV001132333 RCV001133260 RCV001132330 RCV001132332 RCV002408537 RCV002483020
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	SNV Germline	Chr2:178529173	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA284387	rs_55838839	12 SubmittersRCV000040977 RCV000275025 RCV000317386 RCV000295013 RCV000364730 RCV000330150 RCV000462969 RCV000621207 RCV001091785 RCV004537122
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	SNV Germline	Chr2:178529171	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA141752	rs_55725279	13 SubmittersRCV000040978 RCV000172601 RCV000269028 RCV000328741 RCV000357546 RCV000363681 RCV000400183 RCV000621595 RCV001082037 RCV004537123
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)	SNV Germline	Chr2:178528964	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA284402	rs_55842557	21 SubmittersRCV000040981 RCV000231148 RCV000287599 RCV000253556 RCV000286567 RCV000341504 RCV000347285 RCV000395312 RCV000769842 RCV001529340
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	SNV Germline	Chr2:178528914	Conflicting classifications of pathogenicity	not specified 6 conditions Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141761	rs_374405802	7 SubmittersRCV000040983 RCV000764292 RCV001219380 RCV001129058 RCV001129059 RCV001136027 RCV001136028 RCV001136026 RCV001548379 RCV002415483
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	SNV Germline	Chr2:178528831	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA284407	rs_183923129	14 SubmittersRCV000040985 RCV000233309 RCV000274938 RCV000311379 RCV000310281 RCV000369768 RCV000398874 RCV000617669 RCV001080543 RCV003149665 RCV004528227
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)	SNV Germline	Chr2:178528796	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141765	rs_200497615	15 SubmittersRCV000040986 RCV000538774 RCV000620414 RCV000726670 RCV001131607 RCV001131608 RCV001131609 RCV001131610 RCV001131606 RCV001171217
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	SNV Germline	Chr2:178527550	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Dilated cardiomyopathy 1G Primary dilated cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141774	rs_72629793	21 SubmittersRCV000040989 RCV000082477 RCV000241675 RCV001079456 RCV001128833 RCV001135821 RCV001135822 RCV001135823 RCV001171215 RCV000986935 RCV001293191 RCV004537124
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)	SNV Germline	Chr2:178527521	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided	Criteria Provided Conflicting Classifications	CA141780	rs_201835888	10 SubmittersRCV000040991 RCV000466809 RCV000621101 RCV001135818 RCV001135819 RCV001135820 RCV001134356 RCV001135817 RCV001703920
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu)	SNV Germline	Chr2:178751841	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA141789	rs_189445085	5 SubmittersRCV000040996 RCV001703921 RCV005394237

NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)

SNV
Germline

Chr2:178785999

Pathogenic

Hypertrophic cardiomyopathy 9

No Assertion Criteria Provided

CA122607

rs_28933405

1 SubmittersRCV000013484

NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)

SNV
Germline

Chr2:178782980

Likely pathogenic

Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA256496

rs_267607155

2 SubmittersRCV000013486 RCV000211871

NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)

SNV
Germline

Chr2:178527121

Likely pathogenic

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA341209

rs_267607156

6 SubmittersRCV000013489 RCV001378935 RCV001781256 RCV005237373

NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)

SNV
Germline

Chr2:178527148

Pathogenic/Likely pathogenic

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA341213

rs_281864928

6 SubmittersRCV000013490 RCV001319595 RCV004767005 RCV006697674

NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)

SNV
Germline

Chr2:178740125

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA256517

rs_267607158

1 SubmittersRCV000013493

NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)

SNV
Germline

Chr2:178738114

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA256521

rs_147879266

6 SubmittersRCV000013494 RCV000733710 RCV001089351 RCV004734516

NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)

SNV
Germline

Chr2:178799566

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA256527

rs_138060032

19 SubmittersRCV000013495 RCV000172493 RCV000468349 RCV000219791 RCV000617531 RCV001131435 RCV000769143 RCV001134416 RCV001134417 RCV001134418

NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)

SNV
Germline

Chr2:178527098

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343092

rs_281864929

3 SubmittersRCV000031996 RCV003234934 RCV006272363

NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)

SNV
Germline

Chr2:178527235

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138642

rs_193212275

9 SubmittersRCV000039843 RCV000464810 RCV000769835 RCV001509175 RCV002408527 RCV004534848

NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)

SNV
Germline

Chr2:178527222

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138647

rs_147293964

13 SubmittersRCV000039844 RCV000245995 RCV000464935 RCV001131347 RCV001131346 RCV001134349 RCV001134350 RCV001131348 RCV001528464 RCV004534849

NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)

SNV
Germline

Chr2:178527073

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138651

rs_397517478

8 SubmittersRCV000039845 RCV000725604 RCV002415479

NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)

SNV
Germline

Chr2:178764203

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138655

rs_148169214

12 SubmittersRCV000039847 RCV000172723 RCV001129648 RCV001129650 RCV001081037 RCV001129649 RCV001129651 RCV001134674 RCV002381318

NM_001267550.2(TTN):c.10114+5G>A

SNV
Germline

Chr2:178764172

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
TTN-related myopathy
Lung cancer

Criteria Provided
Conflicting Classifications

CA282639

rs_115985443

20 SubmittersRCV000039849 RCV000228929 RCV000247922 RCV000769098 RCV001133198 RCV001133199 RCV001133201 RCV001133200 RCV001133202 RCV001171818 RCV003993762 RCV005890137

NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)

SNV
Germline

Chr2:178759099

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA282640

rs_183336802

15 SubmittersRCV000039850 RCV000585488 RCV001081342 RCV001133087 RCV001136534 RCV001136536 RCV001136533 RCV001136535 RCV001798128 RCV002399384

NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)

SNV
Germline

Chr2:178759045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA282647

rs_45447891

20 SubmittersRCV000039851 RCV000233026 RCV000246467 RCV000769097 RCV001080637 RCV001132162 RCV001132163 RCV001133085 RCV001133086 RCV001132164

NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)

SNV
Germline

Chr2:178738264

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA138666

rs_202017278

5 SubmittersRCV000039854 RCV000172413 RCV000474160

NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)

SNV
Germline

Chr2:178738221

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA138670

rs_55906845

16 SubmittersRCV000039855 RCV000185316 RCV000554346 RCV000619842 RCV000769089 RCV001132041 RCV001132979 RCV001132980 RCV001132981 RCV001132982

NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)

SNV
Germline

Chr2:178735913

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138675

rs_373378672

9 SubmittersRCV000039858 RCV000724172 RCV000534664 RCV001132890 RCV001132891 RCV001136316 RCV001136317 RCV001136315 RCV004724766

NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)

SNV
Germline

Chr2:178735911

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138679

rs_184307461

12 SubmittersRCV000039859 RCV000727735 RCV001085828 RCV001798129

NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)

SNV
Germline

Chr2:178735576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138697

rs_72648925

20 SubmittersRCV000039864 RCV000172700 RCV000245398 RCV000769085 RCV001083213 RCV001131799 RCV001131800 RCV001131801 RCV001131802 RCV001131803 RCV004534850

NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)

SNV
Germline

Chr2:178734926

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138702

rs_369933152

6 SubmittersRCV000039866 RCV000539374 RCV001719762

NM_001267550.2(TTN):c.1137A>G (p.Arg379=)

SNV
Germline

Chr2:178795030

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Tip-toe gait
TTN-related myopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA138707

rs_55972547

21 SubmittersRCV000039867 RCV000226691 RCV000248787 RCV000769138 RCV001130574 RCV001130575 RCV001135664 RCV001135666 RCV001135665 RCV001528655 RCV002225276 RCV003993763 RCV005394227

NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)

SNV
Germline

Chr2:178734746

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Supraventricular tachycardia
Tip-toe gait
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA138719

rs_72648929

22 SubmittersRCV000039869 RCV000245443 RCV000277012 RCV000331058 RCV000273361 RCV000356589 RCV000369337 RCV000416068 RCV001079457 RCV000769081 RCV000852913 RCV002227928 RCV003993764

NM_001267550.2(TTN):c.15496+1G>A

SNV
Germline

Chr2:178734327

Pathogenic/Likely pathogenic

Neuromuscular disease
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA138728

rs_397517481

2 SubmittersRCV000039871 RCV001245126

NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)

SNV
Germline

Chr2:178733826

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Hereditary skeletal muscle disorder

Criteria Provided
Conflicting Classifications

CA211174

rs_72648930

20 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV001131551 RCV002225075 RCV004534852 RCV005625234

NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)

SNV
Germline

Chr2:178733063

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138759

rs_143845692

10 SubmittersRCV000039883 RCV000245367 RCV000272671 RCV000277429 RCV000327716 RCV000367309 RCV000381306 RCV000469089 RCV001086930 RCV004541133

NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)

SNV
Germline

Chr2:178732873

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Heart failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA282698

rs_72648937

21 SubmittersRCV000039884 RCV000242487 RCV000293024 RCV000333991 RCV000318931 RCV000387402 RCV000387868 RCV000458298 RCV000770101 RCV000852911 RCV001529446

NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)

SNV
Germline

Chr2:178732863

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138763

rs_190636272

16 SubmittersRCV000039885 RCV000172406 RCV001080301 RCV001130571 RCV001130572 RCV001130573 RCV001130570 RCV001135657 RCV003149638 RCV004541134

NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)

SNV
Germline

Chr2:178732515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138772

rs_72648940

16 SubmittersRCV000039888 RCV000172697 RCV000249224 RCV000660557 RCV000852909 RCV001081556 RCV001131189 RCV001131186 RCV001131188 RCV001131187 RCV001170649 RCV004534854

NM_001267550.2(TTN):c.16621+7A>T

SNV
Germline

Chr2:178732433

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA282703

rs_10200398

16 SubmittersRCV000039889 RCV000474528 RCV001085418 RCV001130461 RCV001135534 RCV001135532 RCV001135531 RCV001135533 RCV004534855

NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)

SNV
Germline

Chr2:178731827

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Brugada syndrome
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Sarcoma

Criteria Provided
Conflicting Classifications

CA138781

rs_72648942

24 SubmittersRCV000039891 RCV000118738 RCV000252018 RCV000297377 RCV000284293 RCV000336946 RCV000335998 RCV000394055 RCV000852908 RCV000770092 RCV001081837 RCV004534856 RCV005890138

NM_001267550.2(TTN):c.17183-7C>T

SNV
Germline

Chr2:178731590

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138786

rs_371785683

12 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000272411 RCV000324946 RCV000342528 RCV000381839 RCV000471462 RCV001170647 RCV001815173

NM_001267550.2(TTN):c.17183-9T>C

SNV
Germline

Chr2:178731592

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA232536

rs_141687561

15 SubmittersRCV000039893 RCV000230568 RCV001135408 RCV001135409 RCV001135410 RCV001135411 RCV001135412 RCV001529758

NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)

SNV
Germline

Chr2:178731542

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138791

rs_72648943

13 SubmittersRCV000039895 RCV000205655 RCV000725312 RCV000852907 RCV001130952 RCV001133901 RCV001133898 RCV001133899 RCV001133900 RCV001798130 RCV004534857

NM_001267550.2(TTN):c.1365G>A (p.Thr455=)

SNV
Germline

Chr2:178794432

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138805

rs_145211131

5 SubmittersRCV000039898 RCV000270976 RCV000311791 RCV000363227 RCV000368852 RCV000408385 RCV000867716 RCV002381319

NM_001267550.2(TTN):c.1399-3C>T

SNV
Germline

Chr2:178793544

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138811

rs_397517486

4 SubmittersRCV000039900 RCV000461970 RCV001092344 RCV002390168

NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)

SNV
Germline

Chr2:178730712

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA138812

rs_397517487

4 SubmittersRCV001570620 RCV000039902

NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)

SNV
Germline

Chr2:178730605

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA246489

rs_373963067

6 SubmittersRCV000039904 RCV000526756 RCV000724392 RCV003486571

NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)

SNV
Germline

Chr2:178730227

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138816

rs_376012117

4 SubmittersRCV000039906 RCV000225778 RCV003436926

NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)

SNV
Germline

Chr2:178729493

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138833

rs_369544339

7 SubmittersRCV000039912 RCV000545466 RCV000725041

NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)

SNV
Germline

Chr2:178729411

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138838

rs_201263441

10 SubmittersRCV000039913 RCV000172695 RCV000313481 RCV000335088 RCV000370482 RCV000394105 RCV000390068 RCV001087573 RCV001170641 RCV004545740

NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)

SNV
Germline

Chr2:178729380

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular cardiomyopathy
Atrial fibrillation
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138843

rs_72648949

22 SubmittersRCV000039914 RCV000229581 RCV000246252 RCV000283432 RCV000289663 RCV000341928 RCV000380242 RCV000340760 RCV001080584 RCV000852902 RCV001170640

NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)

SNV
Germline

Chr2:178729340

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138848

rs_146219199

13 SubmittersRCV000039915 RCV000253545 RCV000272168 RCV000329497 RCV000330701 RCV000370173 RCV000387580 RCV000462864 RCV001170639 RCV001311557

NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)

SNV
Germline

Chr2:178729332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138852

rs_184412722

20 SubmittersRCV000039916 RCV000082364 RCV000262868 RCV000296922 RCV000302779 RCV000342596 RCV000355321 RCV000852901 RCV001082917 RCV001798131

NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)

SNV
Germline

Chr2:178729300

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282728

rs_149131555

13 SubmittersRCV000039918 RCV000226134 RCV000290608 RCV000304112 RCV000345615 RCV000349032 RCV000402296 RCV000769068

NM_001267550.2(TTN):c.151C>T (p.Leu51=)

SNV
Germline

Chr2:178802282

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138862

rs_397517489

3 SubmittersRCV000039920 RCV001403457 RCV006659160

NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)

SNV
Germline

Chr2:178728776

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138872

rs_72648953

20 SubmittersRCV000039923 RCV000154091 RCV000769064 RCV001134665 RCV001134666 RCV001134662 RCV001134664 RCV001086633 RCV001134663 RCV004534862

NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)

SNV
Germline

Chr2:178728570

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA138877

rs_369275615

6 SubmittersRCV000039927 RCV000274068 RCV000325828 RCV000329256 RCV000383781 RCV000368729 RCV000865191 RCV001079227

NM_001267550.2(TTN):c.19715-4A>G

SNV
Germline

Chr2:178727867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138885

rs_375009631

7 SubmittersRCV000039930 RCV000726302 RCV001087185 RCV003149639

NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)

SNV
Germline

Chr2:178727840

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282763

rs_116572520

13 SubmittersRCV000039931 RCV000228030 RCV000294624 RCV000291004 RCV000315973 RCV000385353 RCV000349495 RCV000769059

NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)

SNV
Germline

Chr2:178727615

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138890

rs_397517493

4 SubmittersRCV000039933 RCV000643024 RCV001703895

NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)

SNV
Germline

Chr2:178727190

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138899

rs_146627500

19 SubmittersRCV000039937 RCV000082367 RCV000264795 RCV000260706 RCV000319862 RCV000304724 RCV000359492 RCV000852896 RCV001082940 RCV001798132

NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)

SNV
Germline

Chr2:178725987

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138912

rs_149470241

18 SubmittersRCV000039940 RCV000082369 RCV001132885 RCV001132886 RCV001132887 RCV001132888 RCV001132889 RCV001086508 RCV001798133 RCV004541135

NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)

SNV
Germline

Chr2:178725981

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Distal myopathy
Limb-girdle muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138917

rs_72648958

20 SubmittersRCV000039941 RCV000172694 RCV001079880 RCV001131917 RCV001131918 RCV001131919 RCV001132883 RCV001132884 RCV001798134 RCV005625236 RCV005625235 RCV004534864

NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)

SNV
Germline

Chr2:178725406

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138930

rs_200118743

15 SubmittersRCV000039945 RCV000172393 RCV001081728 RCV001129107 RCV001129108 RCV001129109 RCV001131791 RCV001131792 RCV001170088 RCV004734557 RCV004018898

NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)

SNV
Germline

Chr2:178790799

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138935

rs_146690035

10 SubmittersRCV000039946 RCV000172490 RCV000852945 RCV001085831 RCV001130954 RCV001130955 RCV001130956 RCV001130957 RCV001130953 RCV004541136

NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)

SNV
Germline

Chr2:178724356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282788

rs_114626713

15 SubmittersRCV000039949 RCV000713983 RCV001136098 RCV001081389 RCV001136095 RCV001136096 RCV001136097 RCV001136099 RCV003486573

NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)

SNV
Germline

Chr2:178724086

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282803

rs_72648964

16 SubmittersRCV000039952 RCV000249879 RCV000225946 RCV001128991 RCV001128992 RCV001128993 RCV001128994 RCV001528458 RCV001128990

NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)

SNV
Germline

Chr2:178723895

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138945

rs_201394117

15 SubmittersRCV000039953 RCV000082370 RCV000278937 RCV000275531 RCV000333001 RCV000389765 RCV000367843 RCV001079235 RCV001170083 RCV004734558

NM_001267550.2(TTN):c.21404-4A>G

SNV
Germline

Chr2:178723700

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA231585

rs_72648965

16 SubmittersRCV000039954 RCV000118741 RCV000143964 RCV001082089 RCV001134548 RCV001134544 RCV001134546 RCV001134545 RCV001134547 RCV004534866

NM_001267550.2(TTN):c.1776T>C (p.Asp592=)

SNV
Germline

Chr2:178790732

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138950

rs_147081804

7 SubmittersRCV000039955 RCV000555156 RCV001135275 RCV001135276 RCV001135277 RCV001135278 RCV001135274 RCV001170667 RCV001598619

NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)

SNV
Germline

Chr2:178802256

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138956

rs_191057824

9 SubmittersRCV000039956 RCV000617724 RCV000727159

NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)

SNV
Germline

Chr2:178723432

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138962

rs_138853909

16 SubmittersRCV000039958 RCV000269064 RCV000326449 RCV000350254 RCV000388473 RCV000384905 RCV000713986 RCV001086766 RCV001170080 RCV004534867

NM_001267550.2(TTN):c.1800+1G>A

SNV
Germline

Chr2:178790707

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Schizophrenia

Criteria Provided
Conflicting Classifications

CA261846

rs_397517497

5 SubmittersRCV000039959 RCV000184208 RCV000503453 RCV000707086 RCV005625237

NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)

SNV
Germline

Chr2:178722809

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138988

rs_397517500

12 SubmittersRCV000039966 RCV000643520 RCV001573334 RCV002477118 RCV003319175 RCV003486574

NM_001267550.2(TTN):c.22241-5T>C

SNV
Germline

Chr2:178722551

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138993

rs_397517501

6 SubmittersRCV000039967 RCV001396572 RCV001719763 RCV004534868

NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)

SNV
Germline

Chr2:178722401

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138994

rs_183482849

13 SubmittersRCV000039969 RCV001065236 RCV001130568 RCV001130567 RCV001130569 RCV001130565 RCV001130566 RCV001507605 RCV003149640 RCV004534869

NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)

SNV
Germline

Chr2:178722088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139000

rs_200061856

8 SubmittersRCV000039971 RCV000727214 RCV001171043

NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)

SNV
Germline

Chr2:178722029

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139004

rs_72648969

22 SubmittersRCV000039973 RCV000205601 RCV000267036 RCV000320876 RCV000325323 RCV000380195 RCV000384525 RCV000770074 RCV001529752

NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)

SNV
Germline

Chr2:178721051

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA282840

rs_201904848

8 SubmittersRCV000039977 RCV000287408 RCV000342343 RCV000322519 RCV000377175 RCV000375799 RCV000474181 RCV003137562

NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)

SNV
Germline

Chr2:178720641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA282852

rs_72648971

14 SubmittersRCV000039982 RCV000726226 RCV001130943 RCV001084613 RCV001133897 RCV001133896 RCV001171041 RCV001130944 RCV001133895

NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)

SNV
Germline

Chr2:178720585

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139019

rs_17452588

19 SubmittersRCV000039983 RCV000248207 RCV000278120 RCV000284280 RCV000331984 RCV000337890 RCV000373899 RCV000372590 RCV000755421 RCV000770071 RCV001529703

NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)

SNV
Germline

Chr2:178720461

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282862

rs_73038337

15 SubmittersRCV000039986 RCV000246470 RCV000463595 RCV001133767 RCV001133769 RCV001133771 RCV001528272 RCV001133768 RCV001133770 RCV003486576

NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)

SNV
Germline

Chr2:178720460

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139029

rs_72648973

21 SubmittersRCV000039987 RCV000154089 RCV000270207 RCV000249580 RCV000299836 RCV000305761 RCV000359255 RCV000402503 RCV001081260 RCV001171039 RCV001358669 RCV004534871

NM_001267550.2(TTN):c.23378-10C>A

SNV
Germline

Chr2:178720274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA210970

rs_72648975

10 SubmittersRCV000039988 RCV000417750 RCV001081932 RCV001130102 RCV001130804 RCV001130103 RCV001130805 RCV001130803 RCV004534872

NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)

SNV
Germline

Chr2:178720250

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA139034

rs_144032104

6 SubmittersRCV000039989 RCV000726274 RCV001130096 RCV001135130 RCV001135129 RCV001135131 RCV001135128

NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)

SNV
Germline

Chr2:178720104

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139042

rs_149523263

19 SubmittersRCV000039991 RCV000082372 RCV000293069 RCV000352590 RCV000335014 RCV000390050 RCV000406710 RCV000852891 RCV001082941 RCV001798135

NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)

SNV
Germline

Chr2:178719283

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139047

rs_200598509

7 SubmittersRCV000039993 RCV000172387

NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)

SNV
Germline

Chr2:178719276

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139052

rs_199576800

5 SubmittersRCV000039994 RCV000726463 RCV001081081 RCV001133388 RCV001133389 RCV001134858 RCV001134859 RCV001134860

NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)

SNV
Germline

Chr2:178718856

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA139062

rs_397517506

6 SubmittersRCV000039999 RCV000231430 RCV003137563 RCV005025092

NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)

SNV
Germline

Chr2:178718746

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139066

rs_397517507

4 SubmittersRCV000040002 RCV000248793 RCV001703897

NM_001267550.2(TTN):c.24546T>A (p.Val8182=)

SNV
Germline

Chr2:178718560

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139071

rs_397517508

2 SubmittersRCV000040005 RCV000463444

NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)

SNV
Germline

Chr2:178718467

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139079

rs_397517510

5 SubmittersRCV000040008 RCV000643239 RCV001531338

NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)

SNV
Germline

Chr2:178718454

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA231586

rs_72648980

16 SubmittersRCV000040009 RCV000118743 RCV000248593 RCV000769055 RCV001083337 RCV001134657 RCV001134658 RCV001134659 RCV001134660 RCV001134656 RCV004534873

NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)

SNV
Germline

Chr2:178718186

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
6 conditions
TTN-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA139087

rs_72648981

20 SubmittersRCV000040011 RCV000082378 RCV001085022 RCV001170867 RCV001132267 RCV001132268 RCV001132269 RCV001132270 RCV001132271 RCV001787037 RCV004534874 RCV005890151

NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)

SNV
Germline

Chr2:178717787

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139118

rs_200972189

13 SubmittersRCV000040022 RCV000118744 RCV001087646 RCV004541139

NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)

SNV
Germline

Chr2:178717244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139128

rs_149855485

19 SubmittersRCV000040029 RCV000082380 RCV000280234 RCV000293034 RCV000374655 RCV000333108 RCV000387544 RCV000852888 RCV001082276 RCV001798137

NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)

SNV
Germline

Chr2:178717170

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA139137

rs_199619070

6 SubmittersRCV000040031 RCV000473874 RCV000726850 RCV002496642

NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)

SNV
Germline

Chr2:178717115

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA139141

rs_201523784

12 SubmittersRCV000040032 RCV000172686 RCV001081212 RCV001132881 RCV001136309 RCV001132882 RCV001136308 RCV001136310 RCV003149643 RCV005054150

NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)

SNV
Germline

Chr2:178715710

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139146

rs_150544093

15 SubmittersRCV000040034 RCV000266857 RCV000272529 RCV000321972 RCV000382248 RCV000376394 RCV000463917 RCV001083818 RCV001170864 RCV004534876

NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)

SNV
Germline

Chr2:178715656

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139158

rs_372802604

7 SubmittersRCV000040038 RCV000290007 RCV000314787 RCV000345084 RCV000369514 RCV000393922 RCV000529441 RCV001697102 RCV003486578

NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)

SNV
Germline

Chr2:178715208

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Ventricular tachycardia
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139162

rs_141856116

22 SubmittersRCV000040041 RCV000118746 RCV000249830 RCV000327425 RCV000333139 RCV000268699 RCV000293596 RCV000382034 RCV000852887 RCV000769050 RCV001083462 RCV004528204

NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)

SNV
Germline

Chr2:178714335

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139171

rs_200088963

15 SubmittersRCV000040048 RCV000226412 RCV000769047 RCV001134537 RCV001134539 RCV001134540 RCV001134536 RCV001134538 RCV001529112

NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)

SNV
Germline

Chr2:178714308

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA282994

rs_140003804

16 SubmittersRCV000040050 RCV000229613 RCV000272376 RCV000321184 RCV000324738 RCV000364621 RCV000378220 RCV000769046 RCV001084999

NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)

SNV
Germline

Chr2:178714306

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139175

rs_368151971

5 SubmittersRCV000040051 RCV000249193 RCV000643107 RCV001697103

NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)

SNV
Germline

Chr2:178714130

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA139179

rs_72648990

13 SubmittersRCV000040052 RCV000226309 RCV000725012 RCV001293146 RCV004528205 RCV005394229

NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)

SNV
Germline

Chr2:178713986

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139188

rs_146057575

16 SubmittersRCV000040055 RCV000289133 RCV000284411 RCV000327811 RCV000333598 RCV000381135 RCV000488131 RCV001084221

NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)

SNV
Germline

Chr2:178713369

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139194

rs_397517520

4 SubmittersRCV000040060 RCV001293131 RCV001550107

NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)

SNV
Germline

Chr2:178713199

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139198

rs_376982715

14 SubmittersRCV000040061 RCV000227647 RCV000725243 RCV001170860

NM_001267550.2(TTN):c.27328+5G>A

SNV
Germline

Chr2:178712692

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139202

rs_397517521

7 SubmittersRCV000040063 RCV000209435 RCV000726292 RCV001087453 RCV001131177 RCV001131179 RCV001131175 RCV001131176 RCV001131178 RCV004534879

NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)

SNV
Germline

Chr2:178712424

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139209

rs_372528823

12 SubmittersRCV000040065 RCV000300773 RCV000336995 RCV000335503 RCV000405514 RCV000394095 RCV000724437 RCV001081198 RCV001170859 RCV004534880

NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)

SNV
Germline

Chr2:178712329

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA139213

rs_368297438

5 SubmittersRCV000040066 RCV000550845 RCV000726525 RCV001798140 RCV005025093

NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)

SNV
Germline

Chr2:178712087

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139223

rs_397517523

5 SubmittersRCV000040068 RCV000244039 RCV002496643 RCV003430647

NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)

SNV
Germline

Chr2:178712037

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139227

rs_397517524

4 SubmittersRCV000040069 RCV001131061 RCV001131058 RCV001131059 RCV001131060 RCV001131062 RCV004534881 RCV003128574

NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)

SNV
Germline

Chr2:178711322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139240

rs_397517527

6 SubmittersRCV000040073 RCV000730993 RCV000852884 RCV001087344

NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)

SNV
Germline

Chr2:178711166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283026

rs_144930507

11 SubmittersRCV000040076 RCV000231488 RCV000291931 RCV000344859 RCV000346806 RCV000390703 RCV000404062 RCV001081637

NM_001267550.2(TTN):c.28463-14G>A

SNV
Germline

Chr2:178709870

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139256

rs_200917885

4 SubmittersRCV000040080 RCV000281900 RCV000335874 RCV000336885 RCV000379633 RCV000371892 RCV001610337 RCV002054778

NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)

SNV
Germline

Chr2:178706644

Conflicting classifications of pathogenicity

not specified
Cardiac arrest
Sudden cardiac death
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA139279

rs_375266859

11 SubmittersRCV000040090 RCV000415299 RCV000530713 RCV000730819 RCV000769897 RCV001134853 RCV001134855 RCV001134857 RCV001134854 RCV001134856

NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)

SNV
Germline

Chr2:178784240

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139287

rs_370962244

7 SubmittersRCV000040094 RCV000643692 RCV000725042

NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)

SNV
Germline

Chr2:178704534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139294

rs_189286381

8 SubmittersRCV000040097 RCV000172684 RCV001078743

NM_001267550.2(TTN):c.29963-13A>G

SNV
Germline

Chr2:178704420

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283066

rs_72650008

11 SubmittersRCV000040098 RCV000282220 RCV000335038 RCV000352559 RCV000374337 RCV000403313 RCV001529310 RCV002054780

NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)

SNV
Germline

Chr2:178704189

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139299

rs_184153985

8 SubmittersRCV000040099 RCV000468986 RCV000768894 RCV001703899 RCV004541142

NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)

SNV
Germline

Chr2:178702656

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283067

rs_74324101

11 SubmittersRCV000040101 RCV000229424 RCV001133186 RCV001133187 RCV001133188 RCV001133189 RCV001134653 RCV001531334 RCV003486579

NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)

SNV
Germline

Chr2:178702613

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139304

rs_72650011

23 SubmittersRCV000040102 RCV000143966 RCV000172683 RCV000768893 RCV000986941 RCV001081687 RCV004534882

NM_001267550.2(TTN):c.30433+11T>G

SNV
Germline

Chr2:178702443

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283082

rs_199848546

5 SubmittersRCV000040105 RCV001129516 RCV001129518 RCV001136529 RCV001129515 RCV001129517 RCV002054781

NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)

SNV
Germline

Chr2:178702194

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139313

rs_200593368

14 SubmittersRCV000040107 RCV000260855 RCV000262132 RCV000253899 RCV000300682 RCV000353220 RCV000385979 RCV000475078 RCV000725352 RCV001170630

NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)

SNV
Germline

Chr2:178784159

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139318

rs_376768790

12 SubmittersRCV000040109 RCV000471292 RCV000620387 RCV000725605 RCV000770154 RCV001135012 RCV001135014 RCV001135010 RCV001135011 RCV001135013 RCV004534885

NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)

SNV
Germline

Chr2:178698879

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Long QT syndrome
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139329

rs_111671438

20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143

NM_001267550.2(TTN):c.30803-15C>T

SNV
Germline

Chr2:178696284

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139338

rs_397517535

2 SubmittersRCV000040113 RCV006555373

NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)

SNV
Germline

Chr2:178784114

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139343

rs_141961878

9 SubmittersRCV000040116 RCV000456367 RCV000725691 RCV002433509

NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)

SNV
Germline

Chr2:178694626

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139353

rs_72650019

20 SubmittersRCV000040118 RCV000172681 RCV001079188 RCV001129207 RCV001129209 RCV001129210 RCV001129206 RCV001129208 RCV001170628

NM_001267550.2(TTN):c.31426+1G>C

SNV
Germline

Chr2:178694598

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA139358

rs_6749719

4 SubmittersRCV000040119 RCV000209261 RCV000560902 RCV005237460

NM_001267550.2(TTN):c.2776-14T>C

SNV
Germline

Chr2:178783799

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139359

rs_201611946

6 SubmittersRCV000040120 RCV001133513 RCV001133514 RCV001133515 RCV001132586 RCV001132587 RCV002054782 RCV004534886

NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)

SNV
Germline

Chr2:178692021

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139360

rs_200459347

14 SubmittersRCV000040123 RCV000725032 RCV001085078 RCV001131660 RCV001131661 RCV001131663 RCV001131662 RCV001131664 RCV001170626 RCV004534887

NM_001267550.2(TTN):c.31763-1G>A

SNV
Germline

Chr2:178689897

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tip-toe gait
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139366

rs_202234172

13 SubmittersRCV000040125 RCV000209343 RCV000726093 RCV001080016 RCV001798142 RCV001849293 RCV003333729

NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)

SNV
Germline

Chr2:178689853

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139371

rs_370080995

15 SubmittersRCV000040127 RCV000231153 RCV000293056 RCV000308421 RCV000344333 RCV000347979 RCV000387481 RCV001170625 RCV001528269 RCV004541144

NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)

SNV
Germline

Chr2:178689822

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139375

rs_200213832

12 SubmittersRCV000040128 RCV000233950 RCV000725168 RCV001134533 RCV001134534 RCV001134535 RCV001135959 RCV001135960 RCV004528207

NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)

SNV
Germline

Chr2:178688688

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139379

rs_115119858

10 SubmittersRCV000040130 RCV000241648 RCV000474330 RCV001798143 RCV004534888 RCV004799179 RCV006449960

NM_001267550.2(TTN):c.32197+11G>A

SNV
Germline

Chr2:178688666

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283106

rs_369265969

7 SubmittersRCV000040131 RCV001131415 RCV001131416 RCV001134391 RCV001134392 RCV001131414 RCV002054783

NM_001267550.2(TTN):c.32198-10T>C

SNV
Germline

Chr2:178688234

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139384

rs_371121439

5 SubmittersRCV000040132 RCV000868229 RCV001719765 RCV003486580

NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)

SNV
Germline

Chr2:178684980

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139390

rs_72650030

18 SubmittersRCV000040138 RCV000082390 RCV001131295 RCV001134271 RCV001134273 RCV001134274 RCV001086201 RCV001134272 RCV003486581 RCV004534889

NM_001267550.2(TTN):c.32555-12G>T

SNV
Germline

Chr2:178684761

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139395

rs_397517540

4 SubmittersRCV000040139 RCV001131290 RCV001131291 RCV001131292 RCV001131293 RCV001131294 RCV001535406 RCV002054785

NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)

SNV
Germline

Chr2:178684747

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139397

rs_201738153

14 SubmittersRCV000040141 RCV000254304 RCV000725191 RCV001082304 RCV001131289 RCV001130561 RCV001130562 RCV001130563 RCV001131288 RCV001798144 RCV004534890

NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)

SNV
Germline

Chr2:178684680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Ventricular tachycardia
Brugada syndrome
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139407

rs_72650031

22 SubmittersRCV000040143 RCV000118748 RCV000245813 RCV000852875 RCV001081904 RCV000770067 RCV001134134 RCV001134135 RCV001134137 RCV001134136 RCV001134138 RCV005621859

NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)

SNV
Germline

Chr2:178684349

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139412

rs_397517542

7 SubmittersRCV000040145 RCV000560344 RCV001131172 RCV001131173 RCV001131174 RCV001130451 RCV001131171 RCV001725953 RCV004541145

NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)

SNV
Germline

Chr2:178684055

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283129

rs_73973137

13 SubmittersRCV000040148 RCV000225853 RCV000245854 RCV000770065 RCV001130445 RCV001135520 RCV001135521 RCV001130444 RCV001135522 RCV004534893 RCV004546420

NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)

SNV
Germline

Chr2:178682738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139426

rs_72650034

16 SubmittersRCV000040152 RCV000154080 RCV000241592 RCV000770062 RCV001085855 RCV001133885 RCV001133887 RCV001133888 RCV001133889 RCV001133886 RCV004541146

NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)

SNV
Germline

Chr2:178682732

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139431

rs_72650035

13 SubmittersRCV000040153 RCV000244280 RCV000540453 RCV000725326 RCV000770061 RCV000852874 RCV001130925 RCV001130927 RCV001130929 RCV001130926 RCV001130928

NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)

SNV
Germline

Chr2:178682728

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283135

rs_115744476

20 SubmittersRCV000040154 RCV000250652 RCV000845348 RCV001083883 RCV001130222 RCV001130223 RCV001130922 RCV001130923 RCV001130924 RCV000770060

NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)

SNV
Germline

Chr2:178680256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139436

rs_72650040

15 SubmittersRCV000040158 RCV000172680 RCV000770057 RCV001082271 RCV001130091 RCV001135119 RCV001135120 RCV001130090 RCV001130092 RCV005621860

NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)

SNV
Germline

Chr2:178679349

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283153

rs_190604150

16 SubmittersRCV000040160 RCV000253048 RCV000727781 RCV001130650 RCV001130646 RCV001130647 RCV001130648 RCV001130649 RCV001081741 RCV003486582 RCV004541147

NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)

SNV
Germline

Chr2:178782904

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139441

rs_148269839

7 SubmittersRCV000040162 RCV000475442 RCV000725354 RCV002433511

NM_001267550.2(TTN):c.33827-8C>T

SNV
Germline

Chr2:178678505

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139448

rs_371318311

8 SubmittersRCV000040163 RCV000725591 RCV001088808 RCV001798145 RCV004541148

NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)

SNV
Germline

Chr2:178678468

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139449

rs_376874956

10 SubmittersRCV000040165 RCV000261380 RCV000264717 RCV000300081 RCV000315424 RCV000353902 RCV000643124 RCV000714019 RCV001170394

NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)

SNV
Germline

Chr2:178782872

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261847

rs_397517547

6 SubmittersRCV000040169 RCV000754723 RCV001314678 RCV002433512 RCV005434619 RCV006688387

NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)

SNV
Germline

Chr2:178675085

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139474

rs_140640738

19 SubmittersRCV000040174 RCV000082392 RCV000309400 RCV000350143 RCV000315049 RCV000369677 RCV000399534 RCV000852870 RCV001082919 RCV001798146

NM_001267550.2(TTN):c.34708+9G>T

SNV
Germline

Chr2:178674305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139479

rs_397517551

6 SubmittersRCV000040175 RCV000730362 RCV001399669

NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)

SNV
Germline

Chr2:178672473

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139486

rs_202014478

20 SubmittersRCV000040179 RCV000172679 RCV000247302 RCV000769039 RCV001081699 RCV001133178 RCV001133179 RCV001132263 RCV001132265 RCV001132264 RCV004534895

NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)

SNV
Germline

Chr2:178782806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139491

rs_142951505

17 SubmittersRCV000040180 RCV000154101 RCV000246075 RCV000209217 RCV000271482 RCV000366063 RCV000369218 RCV000986946 RCV001083564 RCV002227929 RCV004541149 RCV003149645

NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)

SNV
Germline

Chr2:178672161

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139498

rs_369095270

8 SubmittersRCV000040182 RCV000725450 RCV000769037 RCV001087182

NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)

SNV
Germline

Chr2:178782570

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA139502

rs_72647868

13 SubmittersRCV000040183 RCV000456345 RCV000714011 RCV002433513 RCV005394230

NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)

SNV
Germline

Chr2:178671134

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139508

rs_189966800

16 SubmittersRCV000040184 RCV000246293 RCV000274824 RCV000329904 RCV000389983 RCV000364890 RCV000370805 RCV000464829 RCV000769035 RCV001293076 RCV001719766

NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)

SNV
Germline

Chr2:178659026

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139513

rs_200992277

12 SubmittersRCV000040185 RCV000082395 RCV000852867 RCV001083903 RCV001136516 RCV001133069 RCV001133070 RCV001133071 RCV001133068

NM_001267550.2(TTN):c.39128-14T>C

SNV
Germline

Chr2:178652361

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283182

rs_200916144

7 SubmittersRCV000040190 RCV000294097 RCV000329232 RCV000295213 RCV000383775 RCV000390094 RCV001727542 RCV002054789

NM_001267550.2(TTN):c.39211+6C>T

SNV
Germline

Chr2:178652258

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA210973

rs_187365142

16 SubmittersRCV000040193 RCV000723852 RCV000852865 RCV001132960 RCV001132018 RCV001132019 RCV001132020 RCV001085041 RCV001132021 RCV001798147

NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)

SNV
Germline

Chr2:178651962

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139530

rs_201035457

11 SubmittersRCV000040194 RCV000228887 RCV000725460 RCV001798148

NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)

SNV
Germline

Chr2:178651252

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139547

rs_186404793

8 SubmittersRCV000040198 RCV000285797 RCV000310247 RCV000346455 RCV000400718 RCV000400546 RCV000468407 RCV001719767 RCV003486584

NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)

SNV
Germline

Chr2:178782351

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139551

rs_55914517

20 SubmittersRCV000040201 RCV000172732 RCV000253970 RCV001085560 RCV001129772 RCV001132481 RCV001132484 RCV001132483 RCV001132482 RCV001170662 RCV004534896

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

SNV
Germline

Chr2:178642297

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139563

rs_201944202

20 SubmittersRCV000040205 RCV000082399 RCV000294379 RCV000279186 RCV000336318 RCV000337656 RCV000385921 RCV000620121 RCV001086509 RCV001798149 RCV004541151

NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)

SNV
Germline

Chr2:178641287

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139568

rs_370597107

13 SubmittersRCV000040206 RCV000477228 RCV000619166 RCV000770042 RCV001131657 RCV001131658 RCV001131659 RCV001131656 RCV001131655 RCV001719769

NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)

SNV
Germline

Chr2:178782297

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139572

rs_368282893

10 SubmittersRCV000040208 RCV000171326 RCV000643604 RCV001134753 RCV001134755 RCV001134751 RCV001134752 RCV001134754 RCV001293182

NM_001267550.2(TTN):c.40877-14T>C

SNV
Germline

Chr2:178637433

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139578

rs_397517561

2 SubmittersRCV000040209 RCV002054792

NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)

SNV
Germline

Chr2:178782274

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139579

rs_141768043

6 SubmittersRCV000040210 RCV000461316 RCV001133302 RCV001133303 RCV001133304 RCV001133305 RCV001133306 RCV001636630 RCV002321518

NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)

SNV
Germline

Chr2:178636624

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283198

rs_72650077

20 SubmittersRCV000040213 RCV000251423 RCV000266898 RCV000263483 RCV000312419 RCV000354706 RCV000355579 RCV000465879 RCV001081405 RCV000770040

NM_001267550.2(TTN):c.33G>A (p.Pro11=)

SNV
Germline

Chr2:178804610

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139601

rs_138331646

15 SubmittersRCV000040218 RCV000283360 RCV000292016 RCV000342991 RCV000346931 RCV000396961 RCV000621623 RCV000725148 RCV000769152 RCV001086556 RCV004541152

NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)

SNV
Germline

Chr2:178781235

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139607

rs_72647870

15 SubmittersRCV000040219 RCV000172731 RCV000250640 RCV000852941 RCV001084204 RCV001129652 RCV001129653 RCV001129654 RCV001129655 RCV001132367 RCV001798150

NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)

SNV
Germline

Chr2:178635258

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139614

rs_369128249

11 SubmittersRCV000040220 RCV000622242 RCV000770039 RCV000868263 RCV001128762 RCV001128763 RCV001128759 RCV001128760 RCV001128761 RCV001528673

NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)

SNV
Germline

Chr2:178634452

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA139618

rs_34706299

14 SubmittersRCV000040225 RCV000172337 RCV000294831 RCV000343733 RCV000328437 RCV000383259 RCV000399696 RCV000618332 RCV001079995 RCV002225277

NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)

SNV
Germline

Chr2:178633990

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139622

rs_369623392

7 SubmittersRCV000040226 RCV000254284 RCV000458956 RCV000726937

NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)

SNV
Germline

Chr2:178781121

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139643

rs_397517570

4 SubmittersRCV000040232 RCV000726416 RCV001089291

NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)

SNV
Germline

Chr2:178633254

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA139649

rs_397517571

6 SubmittersRCV000040234 RCV000230470 RCV002399386 RCV001588857 RCV005051741

NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)

SNV
Germline

Chr2:178632762

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139657

rs_370342831

7 SubmittersRCV000040236 RCV000769021 RCV000838588 RCV002399387 RCV004734562

NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)

SNV
Germline

Chr2:178632589

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139661

rs_397517573

6 SubmittersRCV000040237 RCV000617879 RCV000726234 RCV001087264 RCV001171014

NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)

SNV
Germline

Chr2:178632317

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139665

rs_373491468

12 SubmittersRCV000040239 RCV000473565 RCV000724718 RCV001133884 RCV001135396 RCV001135394 RCV001135395 RCV001135397 RCV002399388

NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)

SNV
Germline

Chr2:178632204

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139670

rs_181189778

15 SubmittersRCV000040242 RCV000463518 RCV000725048 RCV000852859 RCV001130917 RCV001130918 RCV001130920 RCV001130919 RCV001130921 RCV001171013 RCV002399389

NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)

SNV
Germline

Chr2:178621556

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139695

rs_397517579

3 SubmittersRCV000040254 RCV003137565

NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)

SNV
Germline

Chr2:178621517

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA261855

rs_397517580

6 SubmittersRCV000040256 RCV000786251 RCV000642772 RCV002408529

NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)

SNV
Germline

Chr2:178621496

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139699

rs_17354992

20 SubmittersRCV000040257 RCV000243472 RCV000271569 RCV000312455 RCV000306752 RCV000350900 RCV000363806 RCV000407483 RCV000755420 RCV000770032 RCV001528376

NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)

SNV
Germline

Chr2:178621310

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289089

rs_72677225

24 SubmittersRCV000040258 RCV000118755 RCV000242768 RCV000770031 RCV001133292 RCV001133294 RCV001133295 RCV001133296 RCV001084207 RCV001133293 RCV004534897

NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)

SNV
Germline

Chr2:178621219

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139704

rs_183245562

12 SubmittersRCV000040259 RCV000725531 RCV001084767 RCV002408530 RCV003149646 RCV004534898

NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)

SNV
Germline

Chr2:178621119

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Cardiomyopathy
Cervical cancer
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA248648

rs_201057307

17 SubmittersRCV000040261 RCV000118756 RCV000282960 RCV000378515 RCV000385022 RCV000986939 RCV000621910 RCV000767850 RCV001085279 RCV004541155 RCV003149647 RCV005890164 RCV005890165

NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)

SNV
Germline

Chr2:178620456

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139717

rs_397517583

7 SubmittersRCV000040265 RCV000727270 RCV000770026 RCV001079806 RCV004541156

NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)

SNV
Germline

Chr2:178620031

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283286

rs_147703145

6 SubmittersRCV000040269 RCV000557245 RCV001133065 RCV001133061 RCV001133062 RCV001133063 RCV001133064 RCV002408533 RCV003326338

NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)

SNV
Germline

Chr2:178620030

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139729

rs_200042932

11 SubmittersRCV000040270 RCV000643829 RCV000726230 RCV001132133 RCV001132134 RCV001132131 RCV001133060 RCV001132132 RCV002408534 RCV004534899

NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)

SNV
Germline

Chr2:178618777

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA261860

rs_397517586

1 SubmittersRCV000040273

NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)

SNV
Germline

Chr2:178618768

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261864

rs_397517587

4 SubmittersRCV000209642 RCV006555374

NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)

SNV
Germline

Chr2:178618727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139739

rs_397517588

5 SubmittersRCV000040275 RCV000724839 RCV001078812

NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)

SNV
Germline

Chr2:178618670

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139743

rs_115813214

11 SubmittersRCV000040276 RCV000272075 RCV000287419 RCV000322491 RCV000342339 RCV000377170 RCV000470629 RCV000617450 RCV001719770 RCV004534900

NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)

SNV
Germline

Chr2:178618267

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139747

rs_72677231

22 SubmittersRCV000040277 RCV000206445 RCV000253777 RCV000283374 RCV000291644 RCV000343176 RCV000346585 RCV000382285 RCV000769010 RCV001081905 RCV004541157 RCV005621861

NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)

SNV
Germline

Chr2:178618036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Atrial fibrillation
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139757

rs_72677233

21 SubmittersRCV000040280 RCV000225870 RCV000254435 RCV000343876 RCV000308756 RCV000352447 RCV000392384 RCV000404240 RCV000852855 RCV001083111 RCV001798152

NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)

SNV
Germline

Chr2:178617845

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261868

rs_397517589

2 SubmittersRCV000040282 RCV001852832

NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)

SNV
Germline

Chr2:178617806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139762

rs_146181477

20 SubmittersRCV000040283 RCV000082410 RCV000299345 RCV000314422 RCV000369133 RCV000349511 RCV000619989 RCV000406274 RCV000852853 RCV001083906 RCV001798153

NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)

SNV
Germline

Chr2:178617348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283315

rs_138576504

13 SubmittersRCV000040286 RCV000227469 RCV000285222 RCV000302752 RCV000337139 RCV000342472 RCV000391758 RCV000621575 RCV000769005 RCV001085025

NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)

SNV
Germline

Chr2:178617002

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139772

rs_397517590

2 SubmittersRCV000040287 RCV001711128

NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)

SNV
Germline

Chr2:178779048

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283320

rs_36021856

20 SubmittersRCV000040288 RCV000225777 RCV000250117 RCV000266423 RCV000288662 RCV000323811 RCV000380733 RCV000385248 RCV000769135 RCV001530088

NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly)

SNV
Germline

Chr2:178779040

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA139777

rs_397517591

2 SubmittersRCV000040289

NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)

SNV
Germline

Chr2:178615706

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139787

rs_397517593

7 SubmittersRCV000040291 RCV000727035 RCV001798154 RCV002415481

NM_001267550.2(TTN):c.48638+5G>T

SNV
Germline

Chr2:178615302

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139791

rs_397517594

4 SubmittersRCV000040293 RCV000578677 RCV002426574 RCV002513563

NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)

SNV
Germline

Chr2:178614880

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Long QT syndrome
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139792

rs_72677242

16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000278356 RCV000284453 RCV000337051 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209

NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)

SNV
Germline

Chr2:178614561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA139797

rs_72677243

16 SubmittersRCV000040295 RCV000172665 RCV000247886 RCV000655929 RCV001083138 RCV001130555 RCV000768997 RCV001131281 RCV001131282 RCV001131280

NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)

SNV
Germline

Chr2:178613870

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139810

rs_202094100

16 SubmittersRCV000040300 RCV000184581 RCV000248683 RCV000275689 RCV000330719 RCV000317820 RCV000357355 RCV000372520 RCV000560033 RCV000764335 RCV001170837 RCV004534902

NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)

SNV
Germline

Chr2:178778883

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139816

rs_138506461

14 SubmittersRCV000040304 RCV000232832 RCV000618058 RCV001132983 RCV001132985 RCV001132984 RCV001136418 RCV001136419 RCV001170659 RCV001537833 RCV005625238

NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)

SNV
Germline

Chr2:178612802

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139823

rs_55663050

21 SubmittersRCV000040306 RCV000082412 RCV000282058 RCV000318292 RCV000278424 RCV000321923 RCV000376541 RCV000618761 RCV000770020 RCV000852849 RCV001084198

NM_001267550.2(TTN):c.50355A>G (p.Arg16785=)

SNV
Germline

Chr2:178611954

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139832

rs_192143556

2 SubmittersRCV000040311 RCV005761950

NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)

SNV
Germline

Chr2:178611946

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139836

rs_397517599

12 SubmittersRCV000040312 RCV000284717 RCV000288386 RCV000324575 RCV000339767 RCV000404730 RCV000539364 RCV000770017 RCV001703901 RCV002426575 RCV004541159

NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)

SNV
Germline

Chr2:178611924

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139841

rs_374672630

6 SubmittersRCV000040313 RCV000254431 RCV000727126 RCV001079702 RCV001798155

NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)

SNV
Germline

Chr2:178611857

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139845

rs_397517600

6 SubmittersRCV000040315 RCV000618209 RCV000726235 RCV001086999 RCV001170833

NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)

SNV
Germline

Chr2:178611611

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261872

rs_397517601

5 SubmittersRCV000040317 RCV001852833 RCV003149648 RCV005403743 RCV005630712

NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)

SNV
Germline

Chr2:178777825

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Atrial fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139860

rs_376857956

11 SubmittersRCV000040321 RCV000242790 RCV000544938 RCV000852938 RCV001082368 RCV001798156 RCV004534904

NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)

SNV
Germline

Chr2:178609501

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139879

rs_200650668

17 SubmittersRCV000040327 RCV000227290 RCV000250975 RCV000279940 RCV000294783 RCV000334677 RCV000389173 RCV000374388 RCV000725456 RCV001170610

NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)

SNV
Germline

Chr2:178608901

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283403

rs_139789997

15 SubmittersRCV000040329 RCV000618342 RCV000714048 RCV001086625 RCV001134737 RCV001133290 RCV001133291 RCV001134736 RCV001134738 RCV001798157

NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)

SNV
Germline

Chr2:178608867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139888

rs_397517607

7 SubmittersRCV000040330 RCV000727140 RCV001084774 RCV002426576 RCV001798158

NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)

SNV
Germline

Chr2:178608768

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139896

rs_397517609

4 SubmittersRCV000040332 RCV000642909 RCV001588858

NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)

SNV
Germline

Chr2:178607935

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139904

rs_201213901

23 SubmittersRCV000040336 RCV000118765 RCV000852845 RCV001084228 RCV001129509 RCV001129510 RCV001129511 RCV001129508 RCV001136507 RCV001798159 RCV002426577 RCV004534905

NM_001267550.2(TTN):c.53002+10G>A

SNV
Germline

Chr2:178607775

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283418

rs_370352450

7 SubmittersRCV000040339 RCV000468834 RCV001336911 RCV006445479

NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)

SNV
Germline

Chr2:178607592

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139912

rs_72646808

17 SubmittersRCV000040340 RCV000172663 RCV000291245 RCV000315170 RCV000350259 RCV000335069 RCV000404069 RCV000618788 RCV000770012 RCV000852844 RCV001086451 RCV002221192 RCV004534906

NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)

SNV
Germline

Chr2:178607428

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139925

rs_397517612

12 SubmittersRCV000040345 RCV000276975 RCV000278213 RCV000332004 RCV000366890 RCV000372745 RCV000560612 RCV000770011 RCV001719771 RCV002426579 RCV004534907

NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)

SNV
Germline

Chr2:178605029

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139954

rs_55734111

16 SubmittersRCV000040353 RCV000245658 RCV000231268 RCV000770009 RCV001131774 RCV001132763 RCV001131772 RCV001131771 RCV001131773 RCV001293198 RCV001705688

NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)

SNV
Germline

Chr2:178604988

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283436

rs_2303834

18 SubmittersRCV000040356 RCV000465245 RCV000770008 RCV001136066 RCV001129093 RCV001129094 RCV001311249 RCV001136065 RCV001136067 RCV002453325 RCV004534908

NM_001267550.2(TTN):c.54381+6C>G

SNV
Germline

Chr2:178604702

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139979

rs_368265962

5 SubmittersRCV000040360 RCV000724174 RCV001128980 RCV001128982 RCV001128983 RCV001128981 RCV001131641 RCV004734565

NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)

SNV
Germline

Chr2:178604197

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139980

rs_370135374

10 SubmittersRCV000040361 RCV000228122 RCV000725242 RCV001170604 RCV002426581

NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)

SNV
Germline

Chr2:178604051

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261876

rs_397517620

2 SubmittersRCV000040362 RCV003764696

NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)

SNV
Germline

Chr2:178604002

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139984

rs_116142642

9 SubmittersRCV000040363 RCV000461813 RCV001131522 RCV001131523 RCV001131524 RCV001131525 RCV001131526 RCV001699025 RCV002433514

NM_001267550.2(TTN):c.54793G>A (p.Val18265Ile)

SNV
Germline

Chr2:178603894

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139988

rs_397517621

2 SubmittersRCV000040364 RCV005639075

NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)

SNV
Germline

Chr2:178777254

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA139992

rs_199910114

5 SubmittersRCV001719773 RCV002336142 RCV000040365

NM_001267550.2(TTN):c.54811+15G>A

SNV
Germline

Chr2:178603861

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139998

rs_201450276

5 SubmittersRCV000040366 RCV001134383 RCV001135848 RCV001135849 RCV001135846 RCV001135847 RCV002054794

NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)

SNV
Germline

Chr2:178602584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139999

rs_201035511

14 SubmittersRCV000040367 RCV000172661 RCV000260976 RCV000316224 RCV000341213 RCV000375984 RCV000388261 RCV001086441 RCV001798161 RCV002433515 RCV004528210

NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)

SNV
Germline

Chr2:178602132

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140004

rs_72646819

10 SubmittersRCV000040371 RCV000555854 RCV000726968 RCV000764327 RCV005357278

NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)

SNV
Germline

Chr2:178602002

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140013

rs_367799017

3 SubmittersRCV000040373 RCV000797680 RCV003156220

NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)

SNV
Germline

Chr2:178601450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283460

rs_146608896

12 SubmittersRCV000040375 RCV000228188 RCV000620720 RCV001131279 RCV001134251 RCV001134253 RCV001085000 RCV001134252 RCV001134254 RCV004732586

NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)

SNV
Germline

Chr2:178601444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140022

rs_72646823

16 SubmittersRCV000040376 RCV000172659 RCV000245388 RCV000270469 RCV000324440 RCV000290334 RCV000384696 RCV000360425 RCV001080060 RCV001170600 RCV004534910

NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)

SNV
Germline

Chr2:178601305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140027

rs_200864020

5 SubmittersRCV000040377 RCV000724558 RCV006555375

NM_001267550.2(TTN):c.56647+1G>A

SNV
Germline

Chr2:178599145

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261880

rs_397517624

2 SubmittersRCV000040383 RCV001230770

NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)

SNV
Germline

Chr2:178598768

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA140053

rs_397517627

11 SubmittersRCV000040387 RCV000768980 RCV001130207 RCV001130203 RCV001130204 RCV001130205 RCV001130206 RCV001703902 RCV002433518 RCV004734567 RCV005394231

NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)

SNV
Germline

Chr2:178597958

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140058

rs_200001206

16 SubmittersRCV000040388 RCV000154063 RCV000456245 RCV002433519 RCV003149649

NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)

SNV
Germline

Chr2:178597751

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA261883

rs_72646831

7 SubmittersRCV000157562 RCV000184240 RCV001213420 RCV002433520

NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)

SNV
Germline

Chr2:178597604

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140067

rs_200778464

6 SubmittersRCV000040395 RCV000729782 RCV002433521

NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)

SNV
Germline

Chr2:178595768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Ventricular tachycardia
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140071

rs_397517630

14 SubmittersRCV000040396 RCV000118768 RCV000253459 RCV000467434 RCV000852835 RCV001135096 RCV001135095 RCV001135098 RCV001135097 RCV001135099 RCV001798164

NM_001267550.2(TTN):c.57847+1G>A

SNV
Germline

Chr2:178595506

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA261888

rs_397517631

4 SubmittersRCV000040399 RCV002444494 RCV001798166 RCV006555378

NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)

SNV
Germline

Chr2:178594372

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140089

rs_189818369

7 SubmittersRCV000040403 RCV000544873 RCV001129936 RCV001129932 RCV001129934 RCV001129933 RCV001129935 RCV001711155 RCV002321519

NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)

SNV
Germline

Chr2:178593967

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140094

rs_397517636

7 SubmittersRCV000040405 RCV000184655 RCV000302892 RCV000335169 RCV000338819 RCV000396639 RCV000401844 RCV001087765 RCV002321520

NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)

SNV
Germline

Chr2:178593664

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Ventricular fibrillation
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283500

rs_201840554

14 SubmittersRCV000040407 RCV000463384 RCV000620821 RCV000770002 RCV000852834 RCV001129739 RCV001129741 RCV001134735 RCV001129740 RCV001129742 RCV006449962

NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)

SNV
Germline

Chr2:178593226

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140115

rs_397517640

5 SubmittersRCV000040413 RCV000642907 RCV004541162 RCV002225278

NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)

SNV
Germline

Chr2:178593006

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular dysplasia 9
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140129

rs_72646839

12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523

NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)

SNV
Germline

Chr2:178592801

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140139

rs_371719028

10 SubmittersRCV000040419 RCV000172655 RCV001085920 RCV002321525 RCV004541163

NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)

SNV
Germline

Chr2:178592800

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283510

rs_367622770

15 SubmittersRCV000040420 RCV000254300 RCV000284184 RCV000308595 RCV000339177 RCV000363322 RCV000399397 RCV000465101 RCV001723623 RCV001798168

NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)

SNV
Germline

Chr2:178592797

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140144

rs_188063446

17 SubmittersRCV000040421 RCV000278971 RCV000318896 RCV000342659 RCV000373508 RCV000386004 RCV000469487 RCV001530016 RCV002321526 RCV004534912

NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)

SNV
Germline

Chr2:178592197

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
6 conditions
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140152

rs_374163882

5 SubmittersRCV000040424 RCV003149650 RCV002483015 RCV004700309 RCV004724768

NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)

SNV
Germline

Chr2:178592069

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140157

rs_72646842

12 SubmittersRCV000040425 RCV000266817 RCV000305690 RCV000302100 RCV000353482 RCV000359114 RCV000714060 RCV001086691 RCV002321527 RCV004541164

NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)

SNV
Germline

Chr2:178591814

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140165

rs_199512049

13 SubmittersRCV000040427 RCV000172654 RCV000472663 RCV000768977 RCV001132010 RCV001132952 RCV002321528 RCV004734571

NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)

SNV
Germline

Chr2:178591004

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140179

rs_200212521

21 SubmittersRCV000040433 RCV000172653 RCV000280109 RCV000286181 RCV000343483 RCV000337757 RCV000396846 RCV001086697 RCV001171297 RCV002222151 RCV002321530 RCV004534913

NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)

SNV
Germline

Chr2:178776550

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140193

rs_150725992

7 SubmittersRCV000040436 RCV000545067 RCV001128998 RCV001128997 RCV001135973 RCV001135975 RCV001135974 RCV001719774 RCV003335072

NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)

SNV
Germline

Chr2:178590625

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140204

rs_141973925

22 SubmittersRCV000040438 RCV000242716 RCV000233759 RCV000768968 RCV001082822 RCV001136053 RCV001136054 RCV001136055 RCV001136056 RCV001136057 RCV004534914

NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)

SNV
Germline

Chr2:178590403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140219

rs_147580753

12 SubmittersRCV000040442 RCV000118772 RCV000617338 RCV001086533 RCV004534915

NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)

SNV
Germline

Chr2:178590316

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140224

rs_202012910

14 SubmittersRCV000040443 RCV000118773 RCV000621098 RCV000643646

NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)

SNV
Germline

Chr2:178589849

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261891

rs_72646846

19 SubmittersRCV000184247 RCV000211745 RCV000642745 RCV000768966 RCV001537860 RCV002477121 RCV002453326 RCV003387740 RCV006555379

NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)

SNV
Germline

Chr2:178589803

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA140235

rs_199895260

24 SubmittersRCV000040447 RCV000172651 RCV000279995 RCV000300024 RCV000335020 RCV000378989 RCV000401779 RCV000621320 RCV000768965 RCV000852829 RCV001084857 RCV002222152 RCV004534916 RCV005890170

NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)

SNV
Germline

Chr2:178589340

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283565

rs_72646848

16 SubmittersRCV000040452 RCV000247961 RCV000545656 RCV001082861 RCV001135748 RCV001135744 RCV001135745 RCV001135746 RCV001135747 RCV001171290

NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)

SNV
Germline

Chr2:178776385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Heart failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140248

rs_141213991

21 SubmittersRCV000040454 RCV000172728 RCV000329243 RCV000617741 RCV000852935 RCV001086722 RCV001798169 RCV004528211

NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)

SNV
Germline

Chr2:178589153

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140255

rs_200689750

16 SubmittersRCV000040455 RCV000172650 RCV000246008 RCV000263771 RCV000292758 RCV000317683 RCV000318648 RCV000387122 RCV000458325 RCV003149651

NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)

SNV
Germline

Chr2:178588731

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140264

rs_375006117

15 SubmittersRCV000040457 RCV000268107 RCV000278904 RCV000338583 RCV000323386 RCV000373423 RCV000621929 RCV000726632 RCV001079539 RCV003149652

NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)

SNV
Germline

Chr2:178588560

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA232501

rs_72646852

17 SubmittersRCV000040461 RCV000227404 RCV000621228 RCV000769986 RCV001131027 RCV001131029 RCV001131030 RCV001079503 RCV001131026 RCV001131028 RCV004732587

NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)

SNV
Germline

Chr2:178588544

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140272

rs_375401971

4 SubmittersRCV000040462 RCV000620229 RCV000765561 RCV003137567

NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)

SNV
Germline

Chr2:178588055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140280

rs_200726948

11 SubmittersRCV000040464 RCV000172292 RCV000248255 RCV000269467 RCV000332764 RCV000328753 RCV000367338 RCV000382596 RCV000852826 RCV001080206

NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)

SNV
Germline

Chr2:178776282

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140284

rs_140914855

13 SubmittersRCV000040465 RCV000459694 RCV000725302 RCV001798170 RCV002345306 RCV004734572 RCV005054151

NM_001267550.2(TTN):c.63558G>A (p.Val21186=)

SNV
Germline

Chr2:178587751

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140291

rs_200261892

3 SubmittersRCV000040466 RCV002054796 RCV002453329

NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)

SNV
Germline

Chr2:178587720

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140295

rs_72646855

18 SubmittersRCV000040467 RCV000082417 RCV000143969 RCV000297845 RCV000262231 RCV000312697 RCV000357132 RCV000393151 RCV000619500 RCV000852825 RCV001086280

NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)

SNV
Germline

Chr2:178587332

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140305

rs_200463088

11 SubmittersRCV000040470 RCV000245900 RCV000295521 RCV000294525 RCV000316505 RCV000334167 RCV000373573 RCV000475891 RCV001798171 RCV004534917 RCV005411309

NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)

SNV
Germline

Chr2:178587294

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140309

rs_202240487

13 SubmittersRCV000040471 RCV000172287 RCV001086239 RCV001130765 RCV001130768 RCV001130766 RCV001130767 RCV001130769 RCV001170812 RCV002453331

NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)

SNV
Germline

Chr2:178587269

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140314

rs_201285872

16 SubmittersRCV000040472 RCV000248175 RCV000475952 RCV001085677 RCV001130062 RCV001130063 RCV001130064 RCV001130065 RCV001135093 RCV001170811

NM_001267550.2(TTN):c.63960T>A (p.Val21320=)

SNV
Germline

Chr2:178587251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140318

rs_397517655

11 SubmittersRCV000040473 RCV000727351 RCV000769980 RCV001081322 RCV002453332

NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)

SNV
Germline

Chr2:178586800

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140326

rs_397517657

4 SubmittersRCV000040476 RCV000731919 RCV001087658 RCV002345307

NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)

SNV
Germline

Chr2:178586727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Hypertrophic cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140336

rs_72646859

20 SubmittersRCV000040478 RCV000172649 RCV000244887 RCV001080680 RCV001129930 RCV001129931 RCV001130634 RCV001130633 RCV001130635 RCV001170810 RCV003319176 RCV004541165

NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)

SNV
Germline

Chr2:178776196

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Systolic heart failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140341

rs_146496197

14 SubmittersRCV000040480 RCV000172727 RCV000264307 RCV000299606 RCV000298490 RCV000358988 RCV000393329 RCV000852934 RCV001083255 RCV001798172 RCV002345308 RCV004534918

NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)

SNV
Germline

Chr2:178584852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140358

rs_150661999

20 SubmittersRCV000040483 RCV000082419 RCV000620024 RCV000852822 RCV001079485 RCV001134836 RCV001134837 RCV001134839 RCV001134838 RCV001134840 RCV001798173

NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)

SNV
Germline

Chr2:178584738

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140367

rs_201614524

7 SubmittersRCV000040485 RCV001336915 RCV001356315

NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)

SNV
Germline

Chr2:178776123

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140371

rs_374203813

10 SubmittersRCV000040487 RCV000726856 RCV002345310

NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)

SNV
Germline

Chr2:178584364

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140377

rs_397517660

7 SubmittersRCV000040489 RCV001170805 RCV001727544 RCV004018901 RCV002514153

NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)

SNV
Germline

Chr2:178584357

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140381

rs_397517661

3 SubmittersRCV000040490 RCV001659979 RCV000245164

NM_001267550.2(TTN):c.65276-8T>C

SNV
Germline

Chr2:178583914

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA210974

rs_377484398

5 SubmittersRCV000040491 RCV000727837 RCV001084825 RCV004541166

NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)

SNV
Germline

Chr2:178583723

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140385

rs_56130023

14 SubmittersRCV000040492 RCV000172648 RCV000285866 RCV000289204 RCV000325515 RCV000341054 RCV000383806 RCV000617230 RCV001084400 RCV001170804 RCV004534919

NM_001267550.2(TTN):c.65575+10T>C

SNV
Germline

Chr2:178583597

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA344682

rs_72646864

13 SubmittersRCV000040494 RCV000204359 RCV001133051 RCV001133050 RCV001133052 RCV001136493 RCV001136494 RCV001701487 RCV003149653 RCV004541167

NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)

SNV
Germline

Chr2:178583199

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283609

rs_200825430

14 SubmittersRCV000040495 RCV000253653 RCV000466167 RCV000768959 RCV001132125 RCV001132126 RCV001132122 RCV001132124 RCV001132123 RCV001200435 RCV004541168

NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)

SNV
Germline

Chr2:178583131

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140390

rs_397517662

8 SubmittersRCV000040496 RCV000252626 RCV000993469 RCV001329655 RCV001329656

NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)

SNV
Germline

Chr2:178583056

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140394

rs_148849567

15 SubmittersRCV000040499 RCV000241625 RCV000282835 RCV000337921 RCV000341241 RCV000408381 RCV000381175 RCV000466378 RCV001170583 RCV001703903 RCV004528213

NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)

SNV
Germline

Chr2:178583028

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283624

rs_72646867

18 SubmittersRCV000040500 RCV000225958 RCV000274823 RCV000326526 RCV000329910 RCV000369611 RCV000384695 RCV000621981 RCV000768957 RCV001529138

NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)

SNV
Germline

Chr2:178776041

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA283629

rs_149668487

17 SubmittersRCV000040501 RCV000643663 RCV001085536 RCV001128880 RCV001128882 RCV001131552 RCV001128879 RCV001128881 RCV001170110 RCV002345311

NM_001267550.2(TTN):c.583+5G>A

SNV
Germline

Chr2:178800390

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140399

rs_397517663

6 SubmittersRCV000040502 RCV000642802 RCV001573352

NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)

SNV
Germline

Chr2:178582370

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140400

rs_72646868

10 SubmittersRCV000040503 RCV000460102 RCV000714070 RCV002362633 RCV005621862

NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)

SNV
Germline

Chr2:178581978

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140405

rs_140842479

10 SubmittersRCV000040504 RCV000184735 RCV000765558 RCV001088816 RCV002321531

NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)

SNV
Germline

Chr2:178581650

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261896

rs_397517664

2 SubmittersRCV000040507 RCV003764698

NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)

SNV
Germline

Chr2:178581595

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140414

rs_72646870

10 SubmittersRCV000040508 RCV000473534 RCV000714072 RCV002371842

NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)

SNV
Germline

Chr2:178581576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Thymoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA210975

rs_200971254

17 SubmittersRCV000040510 RCV000459532 RCV000619559 RCV001132756 RCV001170580 RCV001082762 RCV001136161 RCV001136162 RCV001136163 RCV001132757 RCV005890171 RCV005890172

NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)

SNV
Germline

Chr2:178580481

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140433

rs_200343420

10 SubmittersRCV000040513 RCV000269962 RCV000266781 RCV000327353 RCV000323852 RCV000384336 RCV000456180 RCV000617644 RCV001703904

NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)

SNV
Germline

Chr2:178580462

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140437

rs_397517667

6 SubmittersRCV000040514 RCV000621653 RCV000727127 RCV001087265 RCV001170578

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

SNV
Germline

Chr2:178580188

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Brugada syndrome
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140450

rs_72646873

22 SubmittersRCV000040518 RCV000230180 RCV000260453 RCV000275767 RCV000318112 RCV000333256 RCV000368971 RCV000621791 RCV000852821 RCV001083546 RCV001170577 RCV002221193 RCV004541169

NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)

SNV
Germline

Chr2:178580140

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140455

rs_372388682

7 SubmittersRCV000040519 RCV000462522 RCV000618423 RCV001507592 RCV003989305

NM_001267550.2(TTN):c.597A>G (p.Val199=)

SNV
Germline

Chr2:178799897

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140463

rs_144214844

7 SubmittersRCV000040522 RCV000727055 RCV001087951 RCV002354201 RCV004534920

NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)

SNV
Germline

Chr2:178579626

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140469

rs_397517670

3 SubmittersRCV000040524 RCV000769973 RCV001293133

NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)

SNV
Germline

Chr2:178775871

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA140473

rs_144135510

19 SubmittersRCV000040526 RCV000172726 RCV000243819 RCV001085386 RCV001135885 RCV001135886 RCV001135887 RCV001135884 RCV001135883 RCV002225279 RCV003149655 RCV003993766

NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)

SNV
Germline

Chr2:178579070

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA140484

rs_144295295

3 SubmittersRCV000040528 RCV001135839 RCV001135841 RCV001135838 RCV001134379 RCV001135840

NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)

SNV
Germline

Chr2:178578057

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy
6 conditions
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140519

rs_72646880

15 SubmittersRCV000040538 RCV000282806 RCV000307639 RCV000342426 RCV000337009 RCV000405692 RCV000463057 RCV000618829 RCV001093056 RCV001293209 RCV001787841 RCV001798175 RCV004534921

NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)

SNV
Germline

Chr2:178576311

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA140538

rs_201043950

22 SubmittersRCV000040547 RCV000251867 RCV000714083 RCV001086284 RCV001133871 RCV001133872 RCV001133873 RCV001133874 RCV001133870 RCV001798176 RCV004534922 RCV004732463

NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)

SNV
Germline

Chr2:178576229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140543

rs_372799151

11 SubmittersRCV000040548 RCV000725637 RCV001080058 RCV001170571 RCV002326749 RCV004534923

NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)

SNV
Germline

Chr2:178576228

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140548

rs_190421400

9 SubmittersRCV000040549 RCV000246349 RCV000726999 RCV001088941 RCV003149656

NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)

SNV
Germline

Chr2:178575640

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140578

rs_370771532

8 SubmittersRCV000040556 RCV000184775 RCV000544602 RCV001130762 RCV001133729 RCV001133730 RCV001130763 RCV001130764 RCV002326752

NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)

SNV
Germline

Chr2:178575455

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283682

rs_72646890

19 SubmittersRCV000040559 RCV000225796 RCV000247488 RCV000768943 RCV001135084 RCV001135085 RCV001135086 RCV001135087 RCV001079505 RCV001135088 RCV004528215

NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)

SNV
Germline

Chr2:178575384

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140591

rs_397517687

7 SubmittersRCV000040561 RCV000469845 RCV000764320 RCV001311960 RCV001798178

NM_001267550.2(TTN):c.70815G>A (p.Val23605=)

SNV
Germline

Chr2:178575317

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283692

rs_55847238

19 SubmittersRCV000040562 RCV000273614 RCV000247125 RCV000270031 RCV000328195 RCV000389086 RCV000362297 RCV000513284 RCV000768941 RCV001082634

NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)

SNV
Germline

Chr2:178575300

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283702

rs_72646891

15 SubmittersRCV000040564 RCV000227732 RCV000249890 RCV000294398 RCV000337737 RCV000295463 RCV000352767 RCV000390725 RCV001081336 RCV000768940 RCV004534924

NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)

SNV
Germline

Chr2:178575299

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140595

rs_377220635

9 SubmittersRCV000040565 RCV000727288 RCV001088879 RCV001134966 RCV001134967 RCV001134968 RCV001134969 RCV001134970 RCV002326754 RCV004541172

NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)

SNV
Germline

Chr2:178775511

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tip-toe gait
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283707

rs_56404770

17 SubmittersRCV000040567 RCV000204975 RCV000250798 RCV000265924 RCV000285494 RCV000321007 RCV000345056 RCV000381017 RCV000770129 RCV001353375 RCV002227054 RCV004541173

NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)

SNV
Germline

Chr2:178574759

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140607

rs_56245285

11 SubmittersRCV000040569 RCV000285577 RCV000284462 RCV000347647 RCV000372899 RCV000376588 RCV000732480 RCV001083091 RCV002326755

NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)

SNV
Germline

Chr2:178574530

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261901

rs_397517689

19 SubmittersRCV000184258 RCV000208052 RCV000542963 RCV000623243 RCV000768934 RCV002326756 RCV002490565 RCV003448251 RCV003152675 RCV004734574

NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)

SNV
Germline

Chr2:178574427

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Premature ventricular contraction
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140617

rs_55837610

16 SubmittersRCV000040572 RCV000172643 RCV000252755 RCV000263162 RCV000330895 RCV000315908 RCV000374141 RCV000370274 RCV000768933 RCV001079127 RCV001781363 RCV004534925

NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)

SNV
Germline

Chr2:178574251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140622

rs_397517690

7 SubmittersRCV000040573 RCV000725281 RCV001088776 RCV001293079 RCV002326757

NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)

SNV
Germline

Chr2:178574000

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Tip-toe gait
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA283729

rs_56169243

17 SubmittersRCV000040578 RCV000205454 RCV000249434 RCV000300762 RCV000313330 RCV000355560 RCV000393450 RCV000393452 RCV001081981 RCV001170340 RCV004534926 RCV002226451 RCV003993768

NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)

SNV
Germline

Chr2:178573995

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140631

rs_146767076

14 SubmittersRCV000040579 RCV000172642 RCV001084590 RCV001133158 RCV001133160 RCV001133161 RCV001133157 RCV001133159 RCV002326758

NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)

SNV
Germline

Chr2:178573951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140640

rs_201482015

7 SubmittersRCV000040581 RCV000727728 RCV001087461 RCV002326759

NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)

SNV
Germline

Chr2:178573753

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140644

rs_149763294

12 SubmittersRCV000040582 RCV000285232 RCV000310657 RCV000334264 RCV000396450 RCV000403418 RCV000725033 RCV001083817 RCV001170337 RCV002336144 RCV004541174

NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)

SNV
Germline

Chr2:178573950

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140649

rs_200471370

8 SubmittersRCV000040583 RCV000460260 RCV000620443 RCV000723985

NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)

SNV
Germline

Chr2:178573644

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140653

rs_374712231

5 SubmittersRCV000040584 RCV000558833 RCV001703906

NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)

SNV
Germline

Chr2:178775386

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140658

rs_397517693

5 SubmittersRCV000040585 RCV000539387 RCV000727443 RCV002362634

NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)

SNV
Germline

Chr2:178573350

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140664

rs_142874389

16 SubmittersRCV000040587 RCV000172641 RCV000288602 RCV000349884 RCV000343679 RCV000388861 RCV000397203 RCV001080138 RCV002336145 RCV003149657

NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)

SNV
Germline

Chr2:178573201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140669

rs_56201325

20 SubmittersRCV000040588 RCV000118779 RCV000249950 RCV000769952 RCV001083516 RCV001131595 RCV001131997 RCV001131999 RCV001131996 RCV001131998

NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)

SNV
Germline

Chr2:178572964

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140678

rs_182491843

17 SubmittersRCV000040590 RCV000253827 RCV000264085 RCV000328591 RCV000322850 RCV000377423 RCV000383061 RCV000474900 RCV000769950 RCV001703907

NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)

SNV
Germline

Chr2:178572307

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA140683

rs_55762754

21 SubmittersRCV000040592 RCV000247787 RCV000301041 RCV000314072 RCV000336155 RCV000458685 RCV000396511 RCV000367543 RCV000769945 RCV001083733 RCV002223143

NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)

SNV
Germline

Chr2:178571605

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Ventricular tachycardia
Primary dilated cardiomyopathy
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140696

rs_373527654

13 SubmittersRCV000040598 RCV000621675 RCV000534367 RCV000724394 RCV000852812 RCV001293173 RCV005394232 RCV003486596

NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)

SNV
Germline

Chr2:178774998

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Ventricular tachycardia
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140701

rs_201284459

15 SubmittersRCV000040600 RCV000172466 RCV000467881 RCV000852931 RCV001131307 RCV001131308 RCV001131309 RCV001131311 RCV001131310 RCV001798179 RCV002362635

NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)

SNV
Germline

Chr2:178571241

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140708

rs_72646899

12 SubmittersRCV000040601 RCV000288129 RCV000345344 RCV000339683 RCV000397267 RCV000397257 RCV000714090 RCV001082391 RCV002336147 RCV004541175

NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)

SNV
Germline

Chr2:178571237

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140713

rs_201512527

19 SubmittersRCV000040602 RCV000249030 RCV000471721 RCV000768930 RCV001086359 RCV001128971 RCV001128973 RCV001128972 RCV001128974 RCV001131634 RCV004534927

NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)

SNV
Germline

Chr2:178571098

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140718

rs_368914555

12 SubmittersRCV000040605 RCV000464020 RCV001093053 RCV001134503 RCV001134502 RCV001134504 RCV001135950 RCV001135951 RCV001171268 RCV001293087 RCV002336148 RCV004534928

NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)

SNV
Germline

Chr2:178570398

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA140731

rs_397517701

4 SubmittersRCV001703908 RCV001798180 RCV000040610

NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)

SNV
Germline

Chr2:178570062

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140740

rs_397517703

4 SubmittersRCV000040612 RCV000467480 RCV001534450

NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)

SNV
Germline

Chr2:178570019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283771

rs_140350441

15 SubmittersRCV000040613 RCV000233046 RCV000289871 RCV000304997 RCV000362069 RCV000390049 RCV000397350 RCV000619539 RCV001082582 RCV000768924

NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)

SNV
Germline

Chr2:178569459

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140756

rs_201095164

10 SubmittersRCV000040618 RCV000172252 RCV000303107 RCV000271372 RCV000306562 RCV000365850 RCV000400010 RCV001085393 RCV003448252 RCV004541177 RCV003486598

NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)

SNV
Germline

Chr2:178569410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283786

rs_55696153

18 SubmittersRCV000040620 RCV000234701 RCV000247729 RCV000277480 RCV000269503 RCV000364093 RCV000367544 RCV000313845 RCV001081795 RCV000768922

NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)

SNV
Germline

Chr2:178569059

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140764

rs_375398118

9 SubmittersRCV000040623 RCV000620778 RCV000714097 RCV001088371 RCV001133863 RCV001133864 RCV001133865 RCV001133866 RCV001133862

NM_001267550.2(TTN):c.77205G>A (p.Val25735=)

SNV
Germline

Chr2:178568927

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140774

rs_55857909

19 SubmittersRCV000040625 RCV000618047 RCV000714098 RCV001086724 RCV001130891 RCV001130893 RCV001130895 RCV001130892 RCV001130894 RCV003486599

NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)

SNV
Germline

Chr2:178568319

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140792

rs_186681106

15 SubmittersRCV000040631 RCV000264343 RCV000324153 RCV000359085 RCV000360289 RCV000389951 RCV000476610 RCV000768918 RCV001081320 RCV002336150 RCV004534929

NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)

SNV
Germline

Chr2:178568316

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA140797

rs_397517712

7 SubmittersRCV000040632 RCV000526838 RCV001574137 RCV002504912

NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)

SNV
Germline

Chr2:178568284

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA140801

rs_376814602

11 SubmittersRCV000040633 RCV000172251 RCV000768917 RCV001081540 RCV002336151 RCV005394233

NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)

SNV
Germline

Chr2:178774107

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283801

rs_75031300

16 SubmittersRCV000040635 RCV000252219 RCV000472312 RCV001092342 RCV001131193 RCV001131190 RCV001131191 RCV001131192 RCV000770124 RCV001131194

NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)

SNV
Germline

Chr2:178567240

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Premature ventricular contraction
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140814

rs_72648205

15 SubmittersRCV000040638 RCV000247997 RCV000643181 RCV000726516 RCV001134832 RCV001134833 RCV001134834 RCV001134830 RCV001134831 RCV001781364 RCV003149658 RCV004534931

NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)

SNV
Germline

Chr2:178567152

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA140819

rs_370367786

7 SubmittersRCV000040639 RCV001798181 RCV002336153 RCV002504913

NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)

SNV
Germline

Chr2:178566906

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140828

rs_72648206

15 SubmittersRCV000040642 RCV000172633 RCV000296264 RCV000317619 RCV000348884 RCV000388436 RCV000397192 RCV000467348 RCV000620048 RCV000852500 RCV005625239

NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)

SNV
Germline

Chr2:178566813

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283828

rs_56044609

18 SubmittersRCV000040645 RCV000228748 RCV000248962 RCV001132349 RCV000769940 RCV001132351 RCV001132352 RCV001573281 RCV001132348 RCV001132350 RCV004541178

NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)

SNV
Germline

Chr2:178773995

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140833

rs_374509926

6 SubmittersRCV000040646 RCV000725211 RCV001088352 RCV002362636

NM_001267550.2(TTN):c.80271C>T (p.Val26757=)

SNV
Germline

Chr2:178565861

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140848

rs_199875474

15 SubmittersRCV000040654 RCV000249905 RCV000302475 RCV000306368 RCV000359525 RCV000342552 RCV000399521 RCV000465955 RCV001170789 RCV001529926

NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)

SNV
Germline

Chr2:178565707

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140856

rs_369941201

10 SubmittersRCV000040656 RCV000154047 RCV000242849 RCV000471525 RCV000852499

NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)

SNV
Germline

Chr2:178565149

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140873

rs_397517719

10 SubmittersRCV000040663 RCV000617992 RCV000726121 RCV001079917 RCV001132749 RCV001132747 RCV001132748 RCV001136159 RCV001136160 RCV001798182

NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)

SNV
Germline

Chr2:178565027

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA283874

rs_72648212

15 SubmittersRCV000040665 RCV000620096 RCV000726275 RCV001080788 RCV001131747 RCV001129078 RCV001170787 RCV001129079 RCV001131746 RCV001131748

NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)

SNV
Germline

Chr2:178564668

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140878

rs_397517720

3 SubmittersRCV000040666 RCV000524889 RCV000617267

NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)

SNV
Germline

Chr2:178564600

Likely pathogenic

Primary dilated cardiomyopathy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261909

rs_397517721

3 SubmittersRCV000040667 RCV001290682 RCV001378905

NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)

SNV
Germline

Chr2:178564574

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Hypertrophic cardiomyopathy 2

Criteria Provided
Conflicting Classifications

CA283879

rs_56181243

20 SubmittersRCV000040669 RCV000243142 RCV000289639 RCV000311788 RCV000343025 RCV000392160 RCV000401208 RCV000756835 RCV000768912 RCV001083853 RCV004528221 RCV004595900

NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)

SNV
Germline

Chr2:178564461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140891

rs_368443217

11 SubmittersRCV000040671 RCV000727800 RCV000643828 RCV001170785 RCV002345315 RCV004541180

NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)

SNV
Germline

Chr2:178564276

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140895

rs_372784067

4 SubmittersRCV000040673 RCV000643291 RCV001697136

NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)

SNV
Germline

Chr2:178564233

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140899

rs_55850344

12 SubmittersRCV000040674 RCV000176835 RCV000227596 RCV000415094 RCV000619262 RCV000768910

NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)

SNV
Germline

Chr2:178564071

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA140904

rs_368023868

5 SubmittersRCV000040676 RCV002345316 RCV003137569 RCV002477124

NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)

SNV
Germline

Chr2:178564029

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140913

rs_145373396

9 SubmittersRCV000040678 RCV000619273 RCV000456789 RCV001811298 RCV004541182

NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)

SNV
Germline

Chr2:178563912

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140918

rs_376037252

7 SubmittersRCV000040679 RCV000265407 RCV000300600 RCV000304128 RCV000361272 RCV000391590 RCV000726237 RCV002345317

NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)

SNV
Germline

Chr2:178563730

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140922

rs_201958805

11 SubmittersRCV000040681 RCV000300172 RCV000322064 RCV000357436 RCV000353764 RCV000456607 RCV000768905 RCV000787943 RCV000997376 RCV002345318

NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)

SNV
Germline

Chr2:178563643

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140926

rs_201158906

20 SubmittersRCV000040682 RCV000184884 RCV000620912 RCV000768904 RCV001135727 RCV001135728 RCV001135729 RCV001086569 RCV001135730 RCV001135731 RCV004534933

NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)

SNV
Germline

Chr2:178563572

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140931

rs_56264840

21 SubmittersRCV000040684 RCV000082434 RCV000277428 RCV000280746 RCV000316062 RCV000369656 RCV000373068 RCV000620318 RCV000852805 RCV001082278 RCV001798183

NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)

SNV
Germline

Chr2:178563441

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140936

rs_55634791

17 SubmittersRCV000040686 RCV000267329 RCV000302688 RCV000327142 RCV000362027 RCV000363058 RCV000724925 RCV001427304 RCV001798184 RCV002345320

NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)

SNV
Germline

Chr2:178562961

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140941

rs_201896662

11 SubmittersRCV000040691 RCV000172628 RCV000252102 RCV000476606 RCV001130323 RCV001130325 RCV001130327 RCV001130324 RCV001130326 RCV001170783

NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)

SNV
Germline

Chr2:178562851

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140946

rs_371788070

14 SubmittersRCV000040692 RCV000171313 RCV000466706 RCV000769925 RCV001330312 RCV002345321 RCV004734575

NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)

SNV
Germline

Chr2:178562833

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140951

rs_184643087

10 SubmittersRCV000040693 RCV000725532 RCV001087252 RCV002345322 RCV003149659 RCV004534934

NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)

SNV
Germline

Chr2:178562514

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140964

rs_200775919

12 SubmittersRCV000040697 RCV000172229 RCV000283706 RCV000320147 RCV000341923 RCV000372050 RCV000380228 RCV000559104 RCV000620676 RCV000764310 RCV004541183

NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)

SNV
Germline

Chr2:178562262

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Brugada syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140968

rs_148067743

7 SubmittersRCV000040699 RCV000293712 RCV000335686 RCV000336932 RCV000375171 RCV000392066 RCV000475754 RCV000727431 RCV000852498 RCV002345323

NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)

SNV
Germline

Chr2:178773345

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA140973

rs_397517725

8 SubmittersRCV000040700 RCV000172460 RCV000242133 RCV000287099 RCV000309186 RCV000339655 RCV000347654 RCV000463035 RCV000403204

NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)

SNV
Germline

Chr2:178561869

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140979

rs_200450022

15 SubmittersRCV000040701 RCV000172224 RCV001084560 RCV001130623 RCV001130624 RCV001130625 RCV001130627 RCV001130626 RCV002345324 RCV003149660 RCV004734576

NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)

SNV
Germline

Chr2:178561684

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140988

rs_397517727

5 SubmittersRCV000040704 RCV000907241 RCV001798185 RCV003137570

NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)

SNV
Germline

Chr2:178561579

Conflicting classifications of pathogenicity

not specified
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141001

rs_397517729

5 SubmittersRCV000040708 RCV005237461 RCV004991995 RCV004819212 RCV005222726

NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)

SNV
Germline

Chr2:178561436

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141005

rs_397517730

5 SubmittersRCV000040709 RCV000274794 RCV000332698 RCV000318173 RCV000375092 RCV000387249 RCV000726293 RCV001087454 RCV002345326

NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)

SNV
Germline

Chr2:178561209

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Congestive heart failure
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141009

rs_201674674

16 SubmittersRCV000040710 RCV000176789 RCV000531860 RCV000852801 RCV002354203 RCV005025095

NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)

SNV
Germline

Chr2:178561155

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141014

rs_200843338

15 SubmittersRCV000040711 RCV000247193 RCV000305618 RCV000335949 RCV000341787 RCV000406632 RCV000391984 RCV000477567 RCV000726282 RCV001170551

NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)

SNV
Germline

Chr2:178561092

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141018

rs_397517731

7 SubmittersRCV000040712 RCV000227162 RCV000724198 RCV001798186 RCV002354204

NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)

SNV
Germline

Chr2:178560726

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141026

rs_202040332

9 SubmittersRCV000040715 RCV000769914 RCV001080928 RCV001134723 RCV001134724 RCV001134725 RCV001134726 RCV001134727 RCV002354205 RCV003883486

NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)

SNV
Germline

Chr2:178560387

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141035

rs_201688358

5 SubmittersRCV000040717 RCV000725085 RCV000622216

NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)

SNV
Germline

Chr2:178560363

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141039

rs_375667028

6 SubmittersRCV000040718 RCV000832933 RCV003486602

NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)

SNV
Germline

Chr2:178560153

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141043

rs_397517733

4 SubmittersRCV000040719 RCV000643724 RCV002354207 RCV003137571

NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)

SNV
Germline

Chr2:178559661

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141051

rs_200709344

10 SubmittersRCV000040723 RCV000232855 RCV000768877 RCV000997368 RCV002354208

NM_001267550.2(TTN):c.86526T>G (p.Val28842=)

SNV
Germline

Chr2:178559606

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141055

rs_72648226

12 SubmittersRCV000040724 RCV000724569 RCV001081370 RCV001129501 RCV001129502 RCV001129503 RCV001129500 RCV001129499 RCV001798187 RCV002354209 RCV004541184

NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)

SNV
Germline

Chr2:178559449

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141059

rs_201290358

11 SubmittersRCV000040725 RCV000172219 RCV000291684 RCV000307010 RCV000346476 RCV000393775 RCV000402859 RCV001081280 RCV001170545 RCV002354210

NM_001267550.2(TTN):c.86821+2T>A

SNV
Germline

Chr2:178559309

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Autosomal recessive titinopathy
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261913

rs_397517735

14 SubmittersRCV000040727 RCV000184278 RCV000768876 RCV000627778 RCV003389235 RCV002354211 RCV002490567 RCV005055544 RCV004541185

NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)

SNV
Germline

Chr2:178558549

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141064

rs_397517736

5 SubmittersRCV000040728 RCV000727331 RCV001490570 RCV002354212

NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)

SNV
Germline

Chr2:178558009

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141075

rs_369444690

4 SubmittersRCV000040731 RCV000727242 RCV001078979 RCV003162349

NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)

SNV
Germline

Chr2:178557987

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141079

rs_375198596

9 SubmittersRCV000040732 RCV000725253 RCV000643680 RCV001798188 RCV002354213

NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)

SNV
Germline

Chr2:178557942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Cardiomyopathy
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA141084

rs_72648227

21 SubmittersRCV000040733 RCV000172625 RCV000618830 RCV001086492 RCV001129291 RCV001129292 RCV001131993 RCV001131994 RCV001131995 RCV001293177 RCV001798189 RCV002227443

NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)

SNV
Germline

Chr2:178557731

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141089

rs_201831707

11 SubmittersRCV000040734 RCV000225888 RCV000244493 RCV000726191 RCV001129285 RCV001136271 RCV001136272 RCV001136273 RCV001136274 RCV001798190

NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)

SNV
Germline

Chr2:178557454

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141102

rs_141624266

20 SubmittersRCV000040738 RCV000118785 RCV000313315 RCV000307938 RCV000370289 RCV000403035 RCV000397868 RCV001080518 RCV001170318 RCV002354214

NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)

SNV
Germline

Chr2:178557126

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141113

rs_73036368

10 SubmittersRCV000040741 RCV000118786 RCV000476079 RCV001798191 RCV002354215

NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)

SNV
Germline

Chr2:178557064

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141118

rs_183013408

11 SubmittersRCV000040742 RCV000270510 RCV000327903 RCV000334082 RCV000362829 RCV000384731 RCV000475243 RCV000618175 RCV000725444 RCV001798192

NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)

SNV
Germline

Chr2:178556971

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141123

rs_55940667

5 SubmittersRCV000040743 RCV000172214 RCV000245043 RCV001086668

NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)

SNV
Germline

Chr2:178555065

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141128

rs_146181116

23 SubmittersRCV000040746 RCV000242549 RCV000262196 RCV000266709 RCV000319678 RCV000354841 RCV000367586 RCV000471049 RCV000768870 RCV000852799 RCV001081488

NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)

SNV
Germline

Chr2:178555000

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141137

rs_200899806

13 SubmittersRCV000040748 RCV000723789 RCV001170314 RCV001132651 RCV001132652 RCV001132653 RCV001132654 RCV001132655 RCV001084841 RCV002354217 RCV004534935

NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)

SNV
Germline

Chr2:178554974

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141142

rs_371612136

14 SubmittersRCV000040750 RCV000535039 RCV000618466 RCV000768869 RCV001131625 RCV001131626 RCV001131627 RCV001131628 RCV001132650 RCV001796719 RCV004541188

NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)

SNV
Germline

Chr2:178554626

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141150

rs_111727915

12 SubmittersRCV000040752 RCV000282040 RCV000348715 RCV000352269 RCV000374104 RCV000386956 RCV000725034 RCV001085079 RCV001170313 RCV002354219 RCV004534937

NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)

SNV
Germline

Chr2:178553975

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141155

rs_376289479

9 SubmittersRCV000040754 RCV000867974 RCV001134365 RCV001134366 RCV001134364 RCV001135832 RCV001135831 RCV001703911 RCV002354220 RCV004541189

NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)

SNV
Germline

Chr2:178553579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141163

rs_72648238

19 SubmittersRCV000040758 RCV000172208 RCV001082145 RCV001134228 RCV001134225 RCV001134226 RCV001134227 RCV001134229 RCV001798193 RCV002362637 RCV004734578

NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)

SNV
Germline

Chr2:178552953

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Conflicting Classifications

CA141176

rs_397517746

9 SubmittersRCV000040762 RCV000458878 RCV000733290 RCV003147329 RCV002362639 RCV004558291

NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)

SNV
Germline

Chr2:178552364

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141188

rs_149567378

21 SubmittersRCV000040766 RCV000082444 RCV000269727 RCV000320246 RCV000310741 RCV000364179 RCV000365525 RCV000617583 RCV000852796 RCV001083905 RCV001798194

NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)

SNV
Germline

Chr2:178552276

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141193

rs_370479059

13 SubmittersRCV000040768 RCV000251412 RCV000727784 RCV000769888 RCV001083455

NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)

SNV
Germline

Chr2:178552074

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA141197

rs_150430592

21 SubmittersRCV000040770 RCV000082445 RCV000286969 RCV000327591 RCV000278620 RCV000376846 RCV000373393 RCV000618823 RCV000852794 RCV001083184 RCV001798195 RCV003993769

NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)

SNV
Germline

Chr2:178551184

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA284025

rs_193022702

18 SubmittersRCV000040776 RCV000234492 RCV000769884 RCV001133860 RCV001085113 RCV001133857 RCV001133858 RCV001133859 RCV001133861 RCV002362641

NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)

SNV
Germline

Chr2:178551106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141214

rs_145133144

12 SubmittersRCV000040777 RCV000726356 RCV001088287 RCV001130186 RCV001130184 RCV001130882 RCV001130183 RCV001130185 RCV002362642 RCV004541190

NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)

SNV
Germline

Chr2:178550237

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141227

rs_182549226

11 SubmittersRCV000040781 RCV000307351 RCV000294400 RCV000359863 RCV000347053 RCV000403395 RCV000723853 RCV001081378 RCV002362643 RCV003149661 RCV004541191

NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)

SNV
Germline

Chr2:178550217

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Distal myopathy

Criteria Provided
Conflicting Classifications

CA141232

rs_200854704

11 SubmittersRCV000040782 RCV000172620 RCV000282263 RCV000295443 RCV000316301 RCV000352604 RCV000373589 RCV000457779 RCV002362644 RCV005625240

NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)

SNV
Germline

Chr2:178550073

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141236

rs_148617456

20 SubmittersRCV000040783 RCV000082447 RCV000621123 RCV000852791 RCV001082275 RCV001130053 RCV001135075 RCV001135076 RCV001135077 RCV001798197 RCV001135074

NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)

SNV
Germline

Chr2:178549680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141246

rs_201400267

12 SubmittersRCV000040787 RCV000172200 RCV000472772 RCV001134955 RCV001134952 RCV001134953 RCV001134954 RCV001134956 RCV003486607 RCV002354221 RCV005394234

NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)

SNV
Germline

Chr2:178549450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141251

rs_72648247

23 SubmittersRCV000040789 RCV000082448 RCV000247505 RCV000290790 RCV000852789 RCV001083918 RCV001132527 RCV001132528 RCV001798198 RCV002227930 RCV003993770 RCV004534939

NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)

SNV
Germline

Chr2:178549293

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141256

rs_201019681

9 SubmittersRCV000040791 RCV000643343 RCV000726970 RCV001129835 RCV001129836 RCV001129837 RCV001129838 RCV001129839 RCV002362645 RCV003486608

NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)

SNV
Germline

Chr2:178549175

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141261

rs_397517755

9 SubmittersRCV000040793 RCV000226810 RCV002362646 RCV001698952

NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)

SNV
Germline

Chr2:178549089

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141265

rs_77968867

17 SubmittersRCV000040794 RCV000768860 RCV000714120 RCV000852788 RCV001082181 RCV001132438 RCV001129729 RCV001132439 RCV001132436 RCV001132437 RCV002362647

NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)

SNV
Germline

Chr2:178548844

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141274

rs_397517756

11 SubmittersRCV000040797 RCV000464223 RCV000726117 RCV002362648 RCV005394235

NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)

SNV
Germline

Chr2:178548259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141278

rs_202096200

8 SubmittersRCV000040800 RCV000172195 RCV001087420 RCV002371845

NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)

SNV
Germline

Chr2:178547726

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA284075

rs_200173934

18 SubmittersRCV000040805 RCV000233211 RCV000295092 RCV000350053 RCV000345296 RCV000396326 RCV000389462 RCV000768857 RCV000622010 RCV001086039

NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)

SNV
Germline

Chr2:178546805

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA284085

rs_376539252

12 SubmittersRCV000040810 RCV000328211 RCV000288131 RCV000332146 RCV000367671 RCV000382848 RCV000768855 RCV000726857 RCV001085173 RCV002362653

NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)

SNV
Germline

Chr2:178546799

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA141305

rs_397517759

5 SubmittersRCV000040811 RCV000247537 RCV000277148 RCV000298221 RCV000356392 RCV000353169 RCV000390504 RCV004786313

NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)

SNV
Germline

Chr2:178546485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA284090

rs_72648255

19 SubmittersRCV000040813 RCV000228324 RCV000290312 RCV000341684 RCV000345101 RCV000402372 RCV000397865 RCV000621726 RCV001086327 RCV001171238

NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)

SNV
Germline

Chr2:178546480

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141313

rs_72648256

16 SubmittersRCV000040814 RCV000252550 RCV000513556 RCV001082680 RCV000768854 RCV001131865 RCV001132851 RCV001131866 RCV001131867 RCV001131864 RCV004534941

NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)

SNV
Germline

Chr2:178546253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141318

rs_2288326

6 SubmittersRCV000040817 RCV000172188 RCV000268106 RCV000272165 RCV000325497 RCV000360898 RCV000382966 RCV001083436

NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)

SNV
Germline

Chr2:178545994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141327

rs_142525903

13 SubmittersRCV000040821 RCV000172617 RCV000620427 RCV001079500 RCV001131616 RCV001131617 RCV001131618 RCV001131620 RCV001131619 RCV001170761 RCV004534943

NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)

SNV
Germline

Chr2:178545992

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA284115

rs_368243641

13 SubmittersRCV000040822 RCV000244797 RCV000467863 RCV001128957 RCV001131613 RCV001131615 RCV001128956 RCV001131614 RCV001529974 RCV004534944 RCV005890216

NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)

SNV
Germline

Chr2:178545939

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141332

rs_191484894

21 SubmittersRCV000040824 RCV000082453 RCV000620998 RCV000852787 RCV001134487 RCV001082921 RCV001135944 RCV001135945 RCV001135946 RCV001135947 RCV001798200

NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)

SNV
Germline

Chr2:178545457

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy
Ventricular fibrillation
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141349

rs_72648263

20 SubmittersRCV000040830 RCV000172615 RCV000270075 RCV000292373 RCV000327509 RCV000349608 RCV000380825 RCV000621105 RCV000769875 RCV000852785 RCV001085084 RCV004534945

NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)

SNV
Germline

Chr2:178544004

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141358

rs_375640847

8 SubmittersRCV000040833 RCV000643737 RCV000725040 RCV000764305

NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)

SNV
Germline

Chr2:178769738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141363

rs_397517763

7 SubmittersRCV000040834 RCV000185204 RCV000226116 RCV001170097 RCV002371846

NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)

SNV
Germline

Chr2:178543910

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141370

rs_376532382

11 SubmittersRCV000040836 RCV000286881 RCV000281420 RCV000341232 RCV000341884 RCV000390449 RCV000619267 RCV000724899 RCV001086828

NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)

SNV
Germline

Chr2:178543892

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141374

rs_369626133

11 SubmittersRCV000040837 RCV000272185 RCV000307689 RCV000327286 RCV000362345 RCV000367993 RCV000621254 RCV000724900 RCV001086829

NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)

SNV
Germline

Chr2:178543858

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141378

rs_376039623

8 SubmittersRCV000040838 RCV000643268 RCV000767014 RCV002504916 RCV004018903 RCV004734579

NM_001267550.2(TTN):c.96904+4T>C

SNV
Germline

Chr2:178543065

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA141383

rs_373514079

12 SubmittersRCV000040841 RCV000415631 RCV000415660 RCV000537275 RCV000727795 RCV001133976 RCV001135491 RCV001133977 RCV001135492 RCV002371847 RCV005625241

NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)

SNV
Germline

Chr2:178542936

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141384

rs_72648266

14 SubmittersRCV000040842 RCV000466836 RCV001133971 RCV001133972 RCV001133973 RCV001133974 RCV001133975 RCV001170753 RCV001528947 RCV002371848

NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)

SNV
Germline

Chr2:178768898

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
TTN-related disorder
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141401

rs_72647885

17 SubmittersRCV000040847 RCV000082457 RCV001084542 RCV001133642 RCV001133644 RCV001133640 RCV001133641 RCV001133643 RCV004534948 RCV003486612 RCV002444495

NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)

SNV
Germline

Chr2:178542755

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141408

rs_202064385

16 SubmittersRCV000040848 RCV000185032 RCV000242748 RCV001085595 RCV001130310 RCV001135351 RCV001135352 RCV001135353 RCV001135354 RCV001798203

NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)

SNV
Germline

Chr2:178542499

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141421

rs_373206096

14 SubmittersRCV000040851 RCV000185035 RCV001082096 RCV001130874 RCV001130875 RCV001130877 RCV001130876 RCV001130878 RCV002371849 RCV004734580

NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)

SNV
Germline

Chr2:178542338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141434

rs_397517770

5 SubmittersRCV000040854 RCV000726674 RCV001088882

NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)

SNV
Germline

Chr2:178541335

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141439

rs_397517771

5 SubmittersRCV000040856 RCV000266897 RCV000324467 RCV000297925 RCV000354697 RCV000407527 RCV000726291 RCV001088537 RCV002362658

NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)

SNV
Germline

Chr2:178541317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141448

rs_55704830

16 SubmittersRCV000040858 RCV000172611 RCV000248871 RCV000291082 RCV000282930 RCV000322814 RCV000379720 RCV000383122 RCV000769863 RCV001086482 RCV001293119

NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)

SNV
Germline

Chr2:178540307

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141453

rs_397517772

9 SubmittersRCV000040860 RCV000277556 RCV000303221 RCV000308086 RCV000369817 RCV000393698 RCV000619770 RCV000861079 RCV001575156 RCV003149662

NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)

SNV
Germline

Chr2:178539823

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA141465

rs_72648272

23 SubmittersRCV000040865 RCV000172610 RCV000298721 RCV000338814 RCV000341836 RCV000387355 RCV000401107 RCV000620090 RCV000768849 RCV001081784 RCV004534949 RCV005890217

NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)

SNV
Germline

Chr2:178539822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141470

rs_397517775

6 SubmittersRCV000040866 RCV000730013 RCV002362660 RCV002504917

NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)

SNV
Germline

Chr2:178539771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141474

rs_72648273

27 SubmittersRCV000040867 RCV000118794 RCV000248345 RCV000260558 RCV000264048 RCV000321435 RCV000322722 RCV000361061 RCV000354955 RCV000768847 RCV001079943 RCV002222153 RCV004534950

NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)

SNV
Germline

Chr2:178539675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Long QT syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA284164

rs_149001703

23 SubmittersRCV000040869 RCV000419770 RCV000768846 RCV000621374 RCV000852783 RCV001129725 RCV001132433 RCV001132434 RCV001132435 RCV001082901 RCV001129726

NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)

SNV
Germline

Chr2:178768759

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141480

rs_11900987

19 SubmittersRCV000040871 RCV000618556 RCV000457548 RCV000769105 RCV001130675 RCV001130677 RCV001130674 RCV001293102 RCV001130676 RCV001130678 RCV001703913 RCV004534951

NM_001267550.2(TTN):c.98683+7G>C

SNV
Germline

Chr2:178539375

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141487

rs_141150066

10 SubmittersRCV000040874 RCV000542024 RCV001129594 RCV001129595 RCV001129596 RCV001134625 RCV001134626 RCV001529114

NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)

SNV
Germline

Chr2:178539209

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA141489

rs_368877793

15 SubmittersRCV000040877 RCV000622118 RCV000725120 RCV000525675 RCV001170525 RCV005621863

NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)

SNV
Germline

Chr2:178539126

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141494

rs_200544701

8 SubmittersRCV000040878 RCV000864110 RCV001132222 RCV001132224 RCV001132221 RCV001132223 RCV001132220 RCV001561054 RCV003486614 RCV004541194

NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)

SNV
Germline

Chr2:178538798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA284189

rs_78814506

12 SubmittersRCV000040880 RCV000226010 RCV000246674 RCV001080938 RCV001129391 RCV001132108 RCV001132109 RCV001132110 RCV001132107 RCV001170523

NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)

SNV
Germline

Chr2:178537867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141509

rs_371656672

14 SubmittersRCV000040885 RCV000725601 RCV001079868 RCV001798206 RCV002371851

NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)

SNV
Germline

Chr2:178537773

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA141513

rs_371531675

7 SubmittersRCV000040886 RCV000226662 RCV000725376 RCV003149663 RCV005051744

NM_001267550.2(TTN):c.99668G>A (p.Arg33223His)

SNV
Germline

Chr2:178537539

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141517

rs_369081242

2 SubmittersRCV000040887 RCV001697105

NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)

SNV
Germline

Chr2:178537208

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141530

rs_72648278

14 SubmittersRCV000040890 RCV000242155 RCV000206544 RCV000301140 RCV000297253 RCV000367561 RCV000354426 RCV000390707 RCV000390934 RCV000725311 RCV001798207 RCV004534953

NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)

SNV
Germline

Chr2:178537118

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
See cases

Criteria Provided
Conflicting Classifications

CA141535

rs_56061641

17 SubmittersRCV000040891 RCV000242557 RCV000487595 RCV000549681 RCV001131859 RCV001131860 RCV001131861 RCV001131863 RCV001131862 RCV001196003

NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)

SNV
Germline

Chr2:178536330

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141540

rs_397517783

10 SubmittersRCV000040896 RCV000725603 RCV002477125 RCV002381321

NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)

SNV
Germline

Chr2:178768029

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141544

rs_373366126

6 SubmittersRCV000040899 RCV000468674 RCV001133510 RCV001133512 RCV001135007 RCV001133509 RCV001133511 RCV001703915

NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)

SNV
Germline

Chr2:178535403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Atrial fibrillation
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA231615

rs_56273463

23 SubmittersRCV000040902 RCV000118798 RCV000251517 RCV000299708 RCV000349947 RCV000334610 RCV000404458 RCV000407040 RCV000852781 RCV001083282 RCV001170520 RCV003993771

NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)

SNV
Germline

Chr2:178535370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA141552

rs_201554140

15 SubmittersRCV000040903 RCV000226035 RCV000620304 RCV001081693 RCV001128953 RCV001128955 RCV001128954 RCV001131611 RCV001131612 RCV001170519 RCV005625242

NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)

SNV
Germline

Chr2:178767871

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Atrial fibrillation
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA141561

rs_72647894

18 SubmittersRCV000040905 RCV000082466 RCV000247307 RCV000282222 RCV000286768 RCV000341793 RCV000317271 RCV000371851 RCV000852925 RCV000769103 RCV001084199 RCV004534955 RCV005890222

NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)

SNV
Germline

Chr2:178534950

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA231620

rs_34924609

24 SubmittersRCV000040908 RCV000246329 RCV000769857 RCV000713950 RCV000852780 RCV001079468 RCV001131495 RCV001131492 RCV001131493 RCV001134484 RCV001131494 RCV002227931

NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)

SNV
Germline

Chr2:178534849

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA284242

rs_55886356

17 SubmittersRCV000040910 RCV000233206 RCV000245404 RCV000289503 RCV000344458 RCV000341092 RCV000388677 RCV000393835 RCV000769856 RCV001085578 RCV000852779

NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)

SNV
Germline

Chr2:178534724

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141574

rs_55669553

22 SubmittersRCV000040912 RCV000082468 RCV000621955 RCV000852778 RCV001131352 RCV001131354 RCV001082939 RCV001131350 RCV001131351 RCV001131353 RCV001798210

NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)

SNV
Germline

Chr2:178534512

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141584

rs_144963736

19 SubmittersRCV000040914 RCV000713952 RCV000769853 RCV000852777 RCV001084745 RCV001128723 RCV001128724 RCV001128725 RCV001128726 RCV001135717 RCV002390171

NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)

SNV
Germline

Chr2:178534459

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141589

rs_376894729

8 SubmittersRCV000040915 RCV000306383 RCV000350714 RCV000349889 RCV000403010 RCV000407697 RCV000862227 RCV001535414 RCV002390172

NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)

SNV
Germline

Chr2:178534425

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141593

rs_200237973

11 SubmittersRCV000040916 RCV000172607 RCV000246004 RCV000279530 RCV000280823 RCV000316166 RCV000375400 RCV000378875 RCV000466398

NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)

SNV
Germline

Chr2:178534187

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141597

rs_397517786

10 SubmittersRCV000040918 RCV000172161 RCV000542073 RCV002390173

NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)

SNV
Germline

Chr2:178766597

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141602

rs_140664731

11 SubmittersRCV000040920 RCV000786253 RCV001088345 RCV002371852 RCV004534956

NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)

SNV
Germline

Chr2:178534020

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141609

rs_56347248

21 SubmittersRCV000040921 RCV000082470 RCV000622061 RCV000852775 RCV001130525 RCV001130527 RCV001130524 RCV001080039 RCV001130526 RCV001130528

NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)

SNV
Germline

Chr2:178533878

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141618

rs_372716177

10 SubmittersRCV000040923 RCV000462618 RCV001293170 RCV001703916 RCV002390174 RCV003149664

NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)

SNV
Germline

Chr2:178533738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
Hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA141622

rs_72629783

19 SubmittersRCV000040925 RCV000172604 RCV000465722 RCV000491304 RCV000769849 RCV001293056 RCV001333490 RCV002390175 RCV004734584 RCV005394236

NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)

SNV
Germline

Chr2:178533666

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA261918

rs_397517787

1 SubmittersRCV000040926

NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)

SNV
Germline

Chr2:178533323

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141626

rs_192001910

13 SubmittersRCV000040927 RCV000619030 RCV000725429 RCV001082764 RCV001135484 RCV001135485 RCV001135486 RCV001135487 RCV001170292 RCV001135488

NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)

SNV
Germline

Chr2:178533252

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141631

rs_72629785

16 SubmittersRCV000040928 RCV000768834 RCV000710275 RCV001133967 RCV001133969 RCV001081893 RCV001133968 RCV001133970 RCV001135483 RCV002390176

NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)

SNV
Germline

Chr2:178532927

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141643

rs_55945684

14 SubmittersRCV000040931 RCV000245149 RCV000264463 RCV000263262 RCV000322000 RCV000316083 RCV000355491 RCV000361393 RCV000725310 RCV001083917 RCV001798211 RCV004534957

NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)

SNV
Germline

Chr2:178532669

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141648

rs_397517788

6 SubmittersRCV000040933 RCV000475599 RCV001170290 RCV001576785

NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)

SNV
Germline

Chr2:178532641

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA284281

rs_199714102

19 SubmittersRCV000040934 RCV000246198 RCV000312978 RCV000273242 RCV000314269 RCV000371402 RCV000365348 RCV000463236 RCV001529975 RCV004528224 RCV001798212

NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)

SNV
Germline

Chr2:178532364

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141656

rs_185683410

17 SubmittersRCV000040936 RCV000082473 RCV000241855 RCV001084033 RCV000768829 RCV001135202 RCV001135203 RCV001135205 RCV001135204 RCV001135206 RCV004541196

NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)

SNV
Germline

Chr2:178532251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA141661

rs_181679744

11 SubmittersRCV000040937 RCV000725850 RCV001087200 RCV001798213 RCV002399391 RCV005890223

NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)

SNV
Germline

Chr2:178532250

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141665

rs_190565627

13 SubmittersRCV000040938 RCV000291584 RCV000292859 RCV000344090 RCV000350073 RCV000388022 RCV000474765 RCV000618932 RCV001703917 RCV004537120

NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)

SNV
Germline

Chr2:178532230

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141670

rs_397517790

6 SubmittersRCV000040940 RCV002399392 RCV002513571 RCV006445482

NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)

SNV
Germline

Chr2:178766410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141678

rs_202011992

11 SubmittersRCV000040942 RCV000172455 RCV000544021 RCV000769101 RCV002371853

NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)

SNV
Germline

Chr2:178532055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289122

rs_55866005

25 SubmittersRCV000040943 RCV000118804 RCV000250530 RCV000768826 RCV001080684 RCV001135062 RCV001135064 RCV001135061 RCV001135063 RCV001135065 RCV004528225

NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)

SNV
Germline

Chr2:178766383

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141684

rs_397517791

2 SubmittersRCV000040945 RCV002371854

NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)

SNV
Germline

Chr2:178531846

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA284296

rs_56375087

19 SubmittersRCV000040946 RCV000233825 RCV000245559 RCV000272409 RCV000312358 RCV000328153 RCV000366919 RCV000364115 RCV000768825 RCV001529921

NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)

SNV
Germline

Chr2:178531488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA141711

rs_200378865

15 SubmittersRCV000040952 RCV000228793 RCV000275138 RCV000330183 RCV000333536 RCV000369582 RCV000383536 RCV000620982 RCV001081694 RCV001170285 RCV005625243

NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)

SNV
Germline

Chr2:178531432

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141716

rs_371075036

13 SubmittersRCV000040954 RCV000291115 RCV000306236 RCV000342687 RCV000386216 RCV000406153 RCV000474673 RCV000622179 RCV001170284 RCV001703919

NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)

SNV
Germline

Chr2:178764766

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141720

rs_55634230

5 SubmittersRCV000040955 RCV000230763 RCV002381322 RCV001697033

NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)

SNV
Germline

Chr2:178531387

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284311

rs_55938627

16 SubmittersRCV000040956 RCV000261411 RCV000316683 RCV000295377 RCV000374814 RCV000350411 RCV000488073 RCV000621052 RCV001084222 RCV000768822 RCV004528226

NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)

SNV
Germline

Chr2:178531355

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA344687

rs_397517795

7 SubmittersRCV000040957 RCV000204885 RCV002408536 RCV003137574 RCV004537121

NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)

SNV
Germline

Chr2:178531199

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141726

rs_200782068

7 SubmittersRCV000040959 RCV000172151 RCV001132331 RCV001132333 RCV001133260 RCV001132330 RCV001132332 RCV002408537 RCV002483020

NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)

SNV
Germline

Chr2:178529173

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284387

rs_55838839

12 SubmittersRCV000040977 RCV000275025 RCV000317386 RCV000295013 RCV000364730 RCV000330150 RCV000462969 RCV000621207 RCV001091785 RCV004537122

NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)

SNV
Germline

Chr2:178529171

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141752

rs_55725279

13 SubmittersRCV000040978 RCV000172601 RCV000269028 RCV000328741 RCV000357546 RCV000363681 RCV000400183 RCV000621595 RCV001082037 RCV004537123

NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)

SNV
Germline

Chr2:178528964

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA284402

rs_55842557

21 SubmittersRCV000040981 RCV000231148 RCV000287599 RCV000253556 RCV000286567 RCV000341504 RCV000347285 RCV000395312 RCV000769842 RCV001529340

NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)

SNV
Germline

Chr2:178528914

Conflicting classifications of pathogenicity

not specified
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141761

rs_374405802

7 SubmittersRCV000040983 RCV000764292 RCV001219380 RCV001129058 RCV001129059 RCV001136027 RCV001136028 RCV001136026 RCV001548379 RCV002415483

NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)

SNV
Germline

Chr2:178528831

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284407

rs_183923129

14 SubmittersRCV000040985 RCV000233309 RCV000274938 RCV000311379 RCV000310281 RCV000369768 RCV000398874 RCV000617669 RCV001080543 RCV003149665 RCV004528227

NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)

SNV
Germline

Chr2:178528796

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141765

rs_200497615

15 SubmittersRCV000040986 RCV000538774 RCV000620414 RCV000726670 RCV001131607 RCV001131608 RCV001131609 RCV001131610 RCV001131606 RCV001171217

NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)

SNV
Germline

Chr2:178527550

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141774

rs_72629793

21 SubmittersRCV000040989 RCV000082477 RCV000241675 RCV001079456 RCV001128833 RCV001135821 RCV001135822 RCV001135823 RCV001171215 RCV000986935 RCV001293191 RCV004537124

NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)

SNV
Germline

Chr2:178527521

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141780

rs_201835888

10 SubmittersRCV000040991 RCV000466809 RCV000621101 RCV001135818 RCV001135819 RCV001135820 RCV001134356 RCV001135817 RCV001703920

NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu)

SNV
Germline

Chr2:178751841

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141789

rs_189445085

5 SubmittersRCV000040996 RCV001703921 RCV005394237

NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)

SNV
Germline

Chr2:178751325

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141795

rs_147314430

7 SubmittersRCV000041001 RCV000172721 RCV000709884

NM_133379.5(TTN):c.11168C>T (p.Thr3723Met)

SNV
Germline

Chr2:178751232

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA141798

rs_397517803

2 SubmittersRCV000041003

NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)

SNV
Germline

Chr2:178750174

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141813

rs_144690298

6 SubmittersRCV000041013 RCV000172718

NM_133379.5(TTN):c.13204C>T (p.Leu4402Phe)

SNV
Germline

Chr2:178749196

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA141820

rs_370602665

2 SubmittersRCV000041016

NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)

SNV
Germline

Chr2:178749277

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141823

rs_72647902

8 SubmittersRCV000041017 RCV000172716 RCV005394238 RCV004734586

NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)

SNV
Germline

Chr2:178749036

Conflicting classifications of pathogenicity

not specified
Syncope
Hypertrophic cardiomyopathy
Condition: not provided
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA141835

rs_142304137

9 SubmittersRCV000041022 RCV000415195 RCV000726846 RCV001198289

NM_133379.5(TTN):c.13746A>G (p.Gln4582=)

SNV
Germline

Chr2:178748654

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141841

rs_201945197

3 SubmittersRCV000041029 RCV000727157

NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)

SNV
Germline

Chr2:178748416

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141853

rs_374783099

6 SubmittersRCV000041036 RCV000172438 RCV002483023

NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)

SNV
Germline

Chr2:178748073

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141862

rs_142132973

6 SubmittersRCV000041040 RCV000172435

NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)

SNV
Germline

Chr2:178747594

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141874

rs_72648909

10 SubmittersRCV000041046 RCV000172432 RCV002483024

NM_133379.5(TTN):c.14812A>G (p.Met4938Val)

SNV
Germline

Chr2:178747588

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141877

rs_145581345

9 SubmittersRCV000041047 RCV000172708

NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn)

SNV
Germline

Chr2:178747498

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141880

rs_371444691

2 SubmittersRCV000041048 RCV003884340

NM_133379.5(TTN):c.16020T>C (p.His5340=)

SNV
Germline

Chr2:178746380

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141910

rs_200378944

10 SubmittersRCV000041062 RCV000730470 RCV004541202

NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)

SNV
Germline

Chr2:178746072

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA141928

rs_145183384

8 SubmittersRCV000041068 RCV000729159 RCV004786314

NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)

SNV
Germline

Chr2:178741727

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141947

rs_397517825

11 SubmittersRCV000041078 RCV000539120 RCV000769095 RCV001719777 RCV002390177 RCV004541203

NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)

SNV
Germline

Chr2:178741561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141953

rs_148164929

13 SubmittersRCV000041080 RCV000725031 RCV001081319 RCV001171051 RCV002399394 RCV004537137

NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)

SNV
Germline

Chr2:178741391

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141958

rs_397517827

5 SubmittersRCV000041082 RCV001719778

NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)

SNV
Germline

Chr2:178741088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141967

rs_201888760

13 SubmittersRCV000041086 RCV000172704 RCV000560737 RCV002426582 RCV003486619 RCV004537139

NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)

SNV
Germline

Chr2:178741052

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141976

rs_397517829

6 SubmittersRCV000041088 RCV000476484 RCV000727750 RCV002453334

NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)

SNV
Germline

Chr2:178741025

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA261922

rs_397517830

3 SubmittersRCV000041089 RCV002223774 RCV003764701

NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)

SNV
Germline

Chr2:178740646

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141989

rs_370912401

7 SubmittersRCV000041096 RCV000233246 RCV000766916 RCV002453335

NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)

SNV
Germline

Chr2:178740580

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141993

rs_374631591

5 SubmittersRCV000041097 RCV000725423 RCV000770111

NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)

SNV
Germline

Chr2:178740143

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA142008

rs_201506104

3 SubmittersRCV000041102 RCV000726435

NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)

SNV
Germline

Chr2:178739264

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA142026

rs_200204761

13 SubmittersRCV000041112 RCV000172415 RCV000852920 RCV001170876 RCV001083873 RCV002381323

NM_001267550.2(TTN):c.10679-10G>C

SNV
Germline

Chr2:178756807

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA142031

rs_397517832

2 SubmittersRCV000041114 RCV000863334

NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)

SNV
Germline

Chr2:178756554

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA142036

rs_141027782

6 SubmittersRCV000041118 RCV000462754 RCV001088266

NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln)

SNV
Germline

Chr2:178747086

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2003119

rs_146359866

3 SubmittersRCV000727863 RCV002483118 RCV005403754

NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)

SNV
Germline

Chr2:178546004

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986985

rs_267599026

3 SubmittersRCV000727839 RCV002513790 RCV004019076

NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)

SNV
Germline

Chr2:178595662

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60973642

rs_267599044

1 SubmittersRCV002001044

NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln)

SNV
Germline

Chr2:178720255

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000637

rs_267599059

4 SubmittersRCV000726694

NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn)

SNV
Germline

Chr2:178722071

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000803

rs_267599060

2 SubmittersRCV000643853 RCV001555800

NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter)

SNV
Germline

Chr2:178733119

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002098

rs_267599069

2 SubmittersRCV001058308 RCV005632225

NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)

SNV
Germline

Chr2:178773253

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA311474

rs_149660690

5 SubmittersRCV000185190 RCV000535408 RCV000734888 RCV000620633 RCV005025113

NM_001267550.2(TTN):c.14424G>C (p.Val4808=)

SNV
Germline

Chr2:178736022

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA223879

rs_374479775

7 SubmittersRCV000225699 RCV000725707 RCV001084587 RCV001170874

NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg)

SNV
Germline

Chr2:178728343

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA223887

rs_376857772

5 SubmittersRCV000082365 RCV005403762

NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)

SNV
Germline

Chr2:178720026

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223891

rs_181206334

8 SubmittersRCV000082373 RCV001582572 RCV001086234 RCV001798279 RCV004542796

NM_001267550.2(TTN):c.24139T>C (p.Leu8047=)

SNV
Germline

Chr2:178719251

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA223900

rs_398124442

4 SubmittersRCV000082375 RCV002055227 RCV003149767

NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)

SNV
Germline

Chr2:178712128

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223913

rs_143368674

16 SubmittersRCV000221682 RCV000244485 RCV000289504 RCV000318601 RCV000334030 RCV000368614 RCV000388555 RCV000472277 RCV000769904 RCV001080202 RCV004734642

NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)

SNV
Germline

Chr2:178711105

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA223917

rs_72648997

14 SubmittersRCV000214658 RCV000725696 RCV001087430 RCV001130936 RCV001130935 RCV001130937 RCV001133894 RCV001170858 RCV001133893

NM_001267550.2(TTN):c.28754-7A>T

SNV
Germline

Chr2:178707820

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223921

rs_398124445

2 SubmittersRCV000082385 RCV001089243

NM_001267550.2(TTN):c.2765G>A (p.Arg922His)

SNV
Germline

Chr2:178784080

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA149418

rs_56046320

12 SubmittersRCV000082388 RCV000462914 RCV000617419 RCV000852943 RCV001133517 RCV001133519 RCV001133516 RCV001133518 RCV001133520 RCV001811386 RCV003486639

NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)

SNV
Germline

Chr2:178671149

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA223927

rs_398124447

3 SubmittersRCV000082393

NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)

SNV
Germline

Chr2:178659050

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA285769

rs_398124448

9 SubmittersRCV000082394 RCV000467432 RCV000765579 RCV001705786

NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)

SNV
Germline

Chr2:178652161

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA223931

rs_398124449

5 SubmittersRCV000723647 RCV004529865 RCV004525869

NM_001267550.2(TTN):c.39548-8A>G

SNV
Germline

Chr2:178651328

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA178879

rs_369594816

5 SubmittersRCV000152361 RCV000723598 RCV001089077

NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)

SNV
Germline

Chr2:178650195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223935

rs_398124450

8 SubmittersRCV000219253 RCV000725698 RCV001079567

NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)

SNV
Germline

Chr2:178635269

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA285774

rs_373881831

3 SubmittersRCV000723599 RCV002390244

NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)

SNV
Germline

Chr2:178618381

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181789

rs_201717871

20 SubmittersRCV000082407 RCV000154942 RCV000299417 RCV000298829 RCV000335113 RCV000368094 RCV000404084 RCV000618716 RCV001079941 RCV001798280 RCV004542797

NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)

SNV
Germline

Chr2:178618216

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181785

rs_368988689

5 SubmittersRCV000154941 RCV000723600 RCV002415582

NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)

SNV
Germline

Chr2:178608347

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA223945

rs_199615557

17 SubmittersRCV000082414 RCV000230058 RCV000284416 RCV000280893 RCV000319623 RCV000341274 RCV000376497 RCV001553555 RCV002453410 RCV003486641

NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)

SNV
Germline

Chr2:178584879

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181752

rs_181717727

13 SubmittersRCV000154930 RCV000289674 RCV000272166 RCV000342201 RCV000329528 RCV000381758 RCV000468946 RCV000619243 RCV000852823 RCV001798281 RCV001811388

NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)

SNV
Germline

Chr2:178577602

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Uveal melanoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA223957

rs_199506676

14 SubmittersRCV000082422 RCV000209613 RCV000243614 RCV000461211 RCV000725504 RCV000765553 RCV001131152 RCV001131153 RCV001131150 RCV001131151 RCV001134109 RCV003486642 RCV005887650 RCV005887651 RCV005887649

NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)

SNV
Germline

Chr2:178575641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA211199

rs_372382315

9 SubmittersRCV000152231 RCV000723764 RCV001080767 RCV001133735 RCV001133734 RCV001133731 RCV001133732 RCV001133733 RCV002326801

NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)

SNV
Germline

Chr2:178575481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA223961

rs_72646889

12 SubmittersRCV000220711 RCV000725697 RCV001079568 RCV001130061 RCV001130059 RCV001130060 RCV001135089 RCV001135090 RCV002326802

NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)

SNV
Germline

Chr2:178573965

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA223965

rs_398124455

6 SubmittersRCV000082427 RCV001087441 RCV001699202

NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)

SNV
Germline

Chr2:178571536

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA285779

rs_199784966

8 SubmittersRCV000617309 RCV000725164 RCV001082586 RCV002265602 RCV003486643

NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)

SNV
Germline

Chr2:178565869

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA178482

rs_200181804

14 SubmittersRCV000152208 RCV000261192 RCV000301222 RCV000353634 RCV000332574 RCV000389361 RCV000467146 RCV000723763 RCV001170790 RCV002345399 RCV004529866 RCV005394349

NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)

SNV
Germline

Chr2:178564885

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181698

rs_186273940

10 SubmittersRCV000082433 RCV000154913 RCV000229774 RCV000252341

NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)

SNV
Germline

Chr2:178562399

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA223977

rs_375442124

9 SubmittersRCV000082435 RCV001083975 RCV001798282 RCV001582573 RCV004542798 RCV002345400

NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)

SNV
Germline

Chr2:178562392

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181689

rs_188370772

13 SubmittersRCV000154911 RCV000231904 RCV000621416 RCV000852803 RCV001130750 RCV001130752 RCV001130751 RCV001130753 RCV001133725 RCV001811389 RCV003486644

NM_001267550.2(TTN):c.87707-4G>T

SNV
Germline

Chr2:178557559

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA211128

rs_201770959

19 SubmittersRCV000154904 RCV000249525 RCV000272726 RCV000266636 RCV000324137 RCV000359033 RCV000364984 RCV000472169 RCV000768871 RCV001086313

NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)

SNV
Germline

Chr2:178554639

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181657

rs_139506970

13 SubmittersRCV000154901 RCV000232949 RCV000619471 RCV000852798 RCV001128962 RCV001128958 RCV001128959 RCV001128960 RCV001128961 RCV001811390 RCV003486645

NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)

SNV
Germline

Chr2:178553619

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Primary dilated cardiomyopathy
7 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181641

rs_72648237

17 SubmittersRCV000082442 RCV000154897 RCV000246600 RCV000283095 RCV000298847 RCV000343194 RCV000353742 RCV000393180 RCV000404036 RCV001080123 RCV001170311 RCV001293236 RCV001270084 RCV004529867

NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)

SNV
Germline

Chr2:178547242

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181617

rs_149375775

14 SubmittersRCV000154889 RCV000463812 RCV001727567 RCV002362733 RCV004529868

NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)

SNV
Germline

Chr2:178545966

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA181612

rs_72648259

15 SubmittersRCV000082452 RCV000154888 RCV000263196 RCV000312560 RCV000317322 RCV000355719 RCV000369634 RCV000465970 RCV001170760 RCV002362734 RCV004529869 RCV005394350

NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)

SNV
Germline

Chr2:178544214

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223989

rs_183620684

8 SubmittersRCV000082454 RCV000244743 RCV001079012 RCV001420776 RCV004734644

NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)

SNV
Germline

Chr2:178543472

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295734

rs_139223781

15 SubmittersRCV000154886 RCV000227702 RCV000618156 RCV001130418 RCV001130419 RCV001130420 RCV001130421 RCV001135493 RCV001529854 RCV003486646

NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)

SNV
Germline

Chr2:178542370

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223997

rs_376810671

16 SubmittersRCV000082458 RCV000260318 RCV000277832 RCV000251217 RCV000308697 RCV000314163 RCV000367775 RCV000769869 RCV000724942 RCV001085154

NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)

SNV
Germline

Chr2:178542266

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181603

rs_55660660

14 SubmittersRCV000154885 RCV000229045 RCV000620292 RCV000852784 RCV001130049 RCV001130045 RCV001130046 RCV001130047 RCV001130048 RCV001811391 RCV003486647

NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)

SNV
Germline

Chr2:178539109

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA285784

rs_190967471

8 SubmittersRCV000259070 RCV000465659 RCV000723663 RCV002371932 RCV004734645

NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)

SNV
Germline

Chr2:178767787

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224005

rs_368786036

6 SubmittersRCV000709826 RCV000714122

NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)

SNV
Germline

Chr2:178533198

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA285790

rs_188917199

8 SubmittersRCV000259069 RCV000294576 RCV000293378 RCV000333239 RCV000385289 RCV000373025 RCV000470580 RCV000723662 RCV002390246

NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)

SNV
Germline

Chr2:178532034

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA224015

rs_398124463

3 SubmittersRCV000082474 RCV002399472

NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)

SNV
Germline

Chr2:178733497

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Orofacial cleft 1

Criteria Provided
Conflicting Classifications

CA269788

rs_372277017

4 SubmittersRCV000118735 RCV000807735 RCV003159098 RCV003320566

NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)

SNV
Germline

Chr2:178794500

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289082

rs_146000949

16 SubmittersRCV000118737 RCV000229796 RCV000227944 RCV001134163 RCV001134164 RCV001134165 RCV001134166 RCV001134167 RCV002381429 RCV004529987

NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)

SNV
Germline

Chr2:178713271

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA181864

rs_72648994

16 SubmittersRCV000118747 RCV000154969 RCV001082127 RCV001170861 RCV002224961

NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)

SNV
Germline

Chr2:178642237

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA231595

rs_587780488

10 SubmittersRCV000118752 RCV000209291 RCV000525548 RCV001542652 RCV003235044 RCV004797596

NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)

SNV
Germline

Chr2:178608872

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA289095

rs_373305248

12 SubmittersRCV000118764 RCV000253770 RCV000532684 RCV001133286 RCV001133287 RCV001133288 RCV001133289 RCV001133285 RCV005394402 RCV005406832

NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)

SNV
Germline

Chr2:178597809

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA155878

rs_587780489

4 SubmittersRCV000118767 RCV000724559 RCV001430700 RCV006713205

NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)

SNV
Germline

Chr2:178776817

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA269792

rs_587780490

5 SubmittersRCV000118769 RCV001053412 RCV002336259 RCV002464117 RCV004017402

NM_001267550.2(TTN):c.59247C>T (p.Asp19749=)

SNV
Germline

Chr2:178592872

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA155882

rs_587780491

4 SubmittersRCV000118770 RCV001133165 RCV001133167 RCV001133166 RCV001133168 RCV001133164 RCV001404960 RCV004678613

NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)

SNV
Germline

Chr2:178592871

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA231599

rs_200732032

11 SubmittersRCV000118771 RCV000556436 RCV001132252 RCV001132253 RCV001132254 RCV001133162 RCV001133163 RCV002321598 RCV005403764

NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)

SNV
Germline

Chr2:178574291

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289100

rs_56019808

12 SubmittersRCV000118778 RCV000412700 RCV001088347 RCV002326818 RCV004542862

NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)

SNV
Germline

Chr2:178568416

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181709

rs_56341835

13 SubmittersRCV000118781 RCV000154916 RCV000260854 RCV000280942 RCV000316126 RCV000375446 RCV000385773 RCV001081879 RCV002336260

NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)

SNV
Germline

Chr2:178567236

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA178490

rs_73036377

11 SubmittersRCV000118782 RCV000152210 RCV000618164 RCV001083638 RCV004734657 RCV005051749

NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)

SNV
Germline

Chr2:178565810

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289105

rs_55892928

18 SubmittersRCV000118783 RCV000471248 RCV000769934 RCV001129405 RCV001129406 RCV001132115 RCV001132116 RCV001129404 RCV001727579 RCV002345423 RCV004542863

NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)

SNV
Germline

Chr2:178541404

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA231611

rs_369237346

7 SubmittersRCV000118793 RCV000769865 RCV005417966

NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)

SNV
Germline

Chr2:178539459

Likely pathogenic

Tibial muscular dystrophy

Criteria Provided
Single Submitter

CA269799

rs_587780495

1 SubmittersRCV000118795

NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)

SNV
Germline

Chr2:178536432

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA289110

rs_545443009

4 SubmittersRCV000118796 RCV000284327 RCV000279980 RCV000337342 RCV000407424 RCV000407478

NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)

SNV
Germline

Chr2:178767892

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289115

rs_141258018

12 SubmittersRCV000118797 RCV000273543 RCV000319315 RCV000313328 RCV000317280 RCV000355456 RCV000395255 RCV001082250 RCV001293103 RCV001798370 RCV002444573 RCV004542865

NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)

SNV
Germline

Chr2:178533652

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155890

rs_528502993

5 SubmittersRCV000118802 RCV000253169 RCV000534275 RCV000726088

NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)

SNV
Germline

Chr2:178533468

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181560

rs_148525155

18 SubmittersRCV000118803 RCV000154869 RCV000769847 RCV001086370 RCV002225083 RCV002390268

NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)

SNV
Germline

Chr2:178546110

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA358818

rs_869320739

5 SubmittersRCV000119020 RCV000255564

NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)

SNV
Germline

Chr2:178546102

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA358820

rs_869320740

16 SubmittersRCV000119021 RCV000254991 RCV000627779 RCV000768851 RCV003989320 RCV005403765 RCV004767078 RCV005025188

NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)

SNV
Germline

Chr2:178546051

Pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA358822

rs_869320741

2 SubmittersRCV000119022 RCV000986937

NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)

SNV
Germline

Chr2:178546050

Pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure

No Assertion Criteria Provided

CA358824

rs_786205367

1 SubmittersRCV000119023

NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)

SNV
Germline

Chr2:178546049

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA358826

rs_869320742

5 SubmittersRCV000119024 RCV000255214 RCV001380728

NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)

SNV
Germline

Chr2:178546041

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Hereditary inclusion-body myopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal dominant and autosomal recessive TTN-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA358828

rs_753334568

18 SubmittersRCV000119025 RCV000684823 RCV000727672 RCV002492403 RCV003343647 RCV003987364 RCV003988827 RCV004586554 RCV006634902 RCV006699207

NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)

SNV
Germline

Chr2:178545878

Pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure

No Assertion Criteria Provided

CA358830

rs_869320743

1 SubmittersRCV000119026

NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)

SNV
Germline

Chr2:178545864

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA358832

rs_869320744

4 SubmittersRCV000326796 RCV001383197

NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)

SNV
Germline

Chr2:178706917

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA291432

rs_372997298

17 SubmittersRCV000125736 RCV000466578 RCV001133492 RCV001084369 RCV001133491 RCV001133488 RCV001133489 RCV001133490

NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)

SNV
Germline

Chr2:178705237

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295544

rs_56812642

14 SubmittersRCV000152382 RCV000474782 RCV000769895 RCV001132472 RCV001132474 RCV001132473 RCV001132475 RCV001132476 RCV001529519 RCV004532507

NM_001267550.2(TTN):c.41330-7T>A

SNV
Germline

Chr2:178636248

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA291451

rs_373636988

14 SubmittersRCV000125788 RCV000488383 RCV000852861 RCV001084338 RCV001131531 RCV001131532 RCV001131533 RCV001131534 RCV001131535 RCV001798422 RCV004532508 RCV005890881

NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)

SNV
Germline

Chr2:178632746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291452

rs_372382546

5 SubmittersRCV000125795 RCV000725645 RCV001089327 RCV001130343 RCV001130342 RCV001130344 RCV001130345 RCV001130346 RCV002399497

NM_001267550.2(TTN):c.49032G>A (p.Val16344=)

SNV
Germline

Chr2:178614482

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291455

rs_587780980

5 SubmittersRCV000125809 RCV000725203 RCV004019717

NM_001267550.2(TTN):c.59344+3G>A

SNV
Germline

Chr2:178592772

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Ventricular tachycardia
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA211129

rs_142095604

13 SubmittersRCV000154935 RCV000248538 RCV000264865 RCV000310825 RCV000304853 RCV000335560 RCV000359571 RCV000727110 RCV000769994 RCV000852833 RCV001080536

NM_001267550.2(TTN):c.66051G>A (p.Val22017=)

SNV
Germline

Chr2:178582405

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291463

rs_587780981

12 SubmittersRCV000125859 RCV000726514 RCV001087910 RCV002362759 RCV003149860 RCV004532509

NM_001267550.2(TTN):c.69716-5C>G

SNV
Germline

Chr2:178576421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma

Criteria Provided
Conflicting Classifications

CA295531

rs_72646886

21 SubmittersRCV000152234 RCV000226852 RCV000252710 RCV000769958 RCV001080234 RCV001135371 RCV001135373 RCV001135372 RCV001135374 RCV001135370 RCV004532510 RCV005890882 RCV005890885 RCV005890883 RCV005890886 RCV005890884

NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)

SNV
Germline

Chr2:178570394

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302898

rs_371344165

12 SubmittersRCV000176800 RCV000619456 RCV000768925 RCV001131272 RCV001081896 RCV001131271 RCV001131273 RCV001131274 RCV001131275 RCV003311627 RCV004734663

NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)

SNV
Germline

Chr2:178565410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291469

rs_573877174

7 SubmittersRCV000125904 RCV000468046 RCV001083608 RCV002345431

NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)

SNV
Germline

Chr2:178562999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA291472

rs_369223412

11 SubmittersRCV000125915 RCV000714101 RCV001087514 RCV002345432 RCV003486655

NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)

SNV
Germline

Chr2:178560884

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA291475

rs_187180708

11 SubmittersRCV000125920 RCV000725585 RCV001079390 RCV002354317 RCV003149861

NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)

SNV
Germline

Chr2:178550974

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295739

rs_202185465

18 SubmittersRCV000154895 RCV000261379 RCV000316581 RCV000301633 RCV000358783 RCV000395547 RCV000474541 RCV000769881 RCV001083779 RCV002362760 RCV004544258

NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)

SNV
Germline

Chr2:178543289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291485

rs_368423941

8 SubmittersRCV000125955 RCV000726232 RCV001087489 RCV002362761

NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)

SNV
Germline

Chr2:178539043

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295730

rs_374081262

14 SubmittersRCV000154881 RCV000249130 RCV000533532 RCV001129489 RCV001129487 RCV001129488 RCV001132218 RCV001132219 RCV001529852 RCV003486656

NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)

SNV
Germline

Chr2:178532158

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291495

rs_548677252

8 SubmittersRCV000125984 RCV000726930 RCV001087731 RCV001798423 RCV002399498 RCV004734665

NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)

SNV
Germline

Chr2:178531045

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291499

rs_377340289

5 SubmittersRCV000125993 RCV000866384 RCV001132213 RCV001132215 RCV001132214 RCV001132211 RCV001132212 RCV003162565

NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)

SNV
Germline

Chr2:178527729

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295718

rs_371480338

19 SubmittersRCV000154866 RCV000293396 RCV000328511 RCV000352785 RCV000394329 RCV000382989 RCV000467771 RCV000619495 RCV000769838 RCV001079489

NM_001267550.2(TTN):c.6790+12C>T

SNV
Germline

Chr2:178774909

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA295558

rs_200187117

8 SubmittersRCV000152498 RCV000304236 RCV000349481 RCV000334636 RCV000406832 RCV000405722 RCV001705913 RCV002055618

NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)

SNV
Germline

Chr2:178774244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291507

rs_587780986

5 SubmittersRCV000126025 RCV000724995 RCV001465849 RCV002371964

NM_001267550.2(TTN):c.8902+14T>A

SNV
Germline

Chr2:178769665

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Atrial fibrillation
Ventricular tachycardia
Congestive heart failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA232526

rs_13388274

13 SubmittersRCV000225706 RCV000267488 RCV000300272 RCV000313227 RCV000352988 RCV000393312 RCV000723790 RCV000852926 RCV002055620

NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)

SNV
Germline

Chr2:178767828

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291514

rs_587780987

5 SubmittersRCV000126038 RCV000725086 RCV001085779 RCV003162566 RCV004544259

NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln)

SNV
Germline

Chr2:178759124

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA232527

rs_187703540

9 SubmittersRCV000126046 RCV000184059 RCV000617538 RCV000852924 RCV001081931 RCV001129539 RCV001129535 RCV001129536 RCV001129537 RCV001129538 RCV003149862

NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)

SNV
Germline

Chr2:178740926

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA291524

rs_587780988

4 SubmittersRCV000126087 RCV000727051 RCV001426537

NM_001267550.2(TTN):c.296-14T>C

SNV
Germline

Chr2:178800696

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211121

rs_199951296

14 SubmittersRCV000152537 RCV000287900 RCV000302999 RCV000347569 RCV000400585 RCV000400683 RCV001528638 RCV002055622 RCV004017413 RCV004532512

NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)

SNV
Germline

Chr2:178729077

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295771

rs_145204073

13 SubmittersRCV000154988 RCV000266819 RCV000263263 RCV000303282 RCV000306728 RCV000357808 RCV000472153 RCV000769066

NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)

SNV
Germline

Chr2:178723545

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295759

rs_201155967

16 SubmittersRCV000154979 RCV000232778 RCV000271009 RCV000303705 RCV000307316 RCV000364338 RCV000360759 RCV000770081 RCV001081223

NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)

SNV
Germline

Chr2:178717171

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295811

rs_556205722

7 SubmittersRCV000155696 RCV000231186 RCV001812063

NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)

SNV
Germline

Chr2:178717165

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211203

rs_375022009

9 SubmittersRCV000154971 RCV000724192 RCV001089031 RCV004532513

NM_001267550.2(TTN):c.26019C>T (p.His8673=)

SNV
Germline

Chr2:178715167

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA291535

rs_370266918

7 SubmittersRCV000126158 RCV000254515 RCV000727398 RCV001084296

NM_001267550.2(TTN):c.50858-3C>T

SNV
Germline

Chr2:178611274

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA345902

rs_587782987

12 SubmittersRCV000143972 RCV000225702 RCV000546863 RCV000727758 RCV001130643 RCV001130642 RCV001130639 RCV001130640 RCV001130641 RCV002444595 RCV004544324

NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)

SNV
Germline

Chr2:178531403

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA181087

rs_3813249

7 SubmittersRCV000154641 RCV001133347 RCV001133348 RCV001134817 RCV001133350 RCV000868561 RCV001133349 RCV001697052 RCV004534958 RCV005888484

NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)

SNV
Germline

Chr2:178531841

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA181565

rs_201218828

16 SubmittersRCV000154870 RCV000157567 RCV000172603 RCV000248440 RCV000768824 RCV001082313 RCV001129917 RCV001134948 RCV001134949 RCV001134950 RCV001134951

NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)

SNV
Germline

Chr2:178532354

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184841

rs_727505020

9 SubmittersRCV000156444 RCV000475607 RCV000620906 RCV001262303 RCV003149957 RCV003137680 RCV004535009

NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)

SNV
Germline

Chr2:178532615

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183120

rs_727504476

11 SubmittersRCV000155604 RCV000474904 RCV000725227 RCV000768831 RCV000764296 RCV002399551

NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)

SNV
Germline

Chr2:178532957

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185350

rs_727505196

8 SubmittersRCV000156687 RCV001369508 RCV001589021 RCV002390367

NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)

SNV
Germline

Chr2:178534344

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Heart failure
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211232

rs_140319117

21 SubmittersRCV000119019 RCV000154875 RCV000509179 RCV000621822 RCV000713953 RCV001086721 RCV000852776 RCV001134222 RCV001134223 RCV001134221 RCV001798505 RCV004544417

NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)

SNV
Germline

Chr2:178536347

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178384

rs_200166942

18 SubmittersRCV000152165 RCV000277427 RCV000328826 RCV000324927 RCV000376472 RCV000381891 RCV000471295 RCV000621516 RCV000724741 RCV000764299 RCV000768836

NM_001267550.2(TTN):c.99290-6G>T

SNV
Germline

Chr2:178537923

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184776

rs_727504987

3 SubmittersRCV000156404 RCV000869431

NM_001267550.2(TTN):c.98684-10A>G

SNV
Germline

Chr2:178539261

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184979

rs_727505072

2 SubmittersRCV000156510 RCV000964574

NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)

SNV
Germline

Chr2:178539537

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA273569

rs_727504550

4 SubmittersRCV000155712 RCV000815550 RCV004815246 RCV006699216

NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)

SNV
Germline

Chr2:178539931

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273595

rs_727504679

3 SubmittersRCV000155948 RCV001378990 RCV002362826

NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)

SNV
Germline

Chr2:178541435

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181600

rs_377599569

6 SubmittersRCV000154884 RCV000643170 RCV000726736 RCV002372013

NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)

SNV
Germline

Chr2:178544261

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA178410

rs_727503541

6 SubmittersRCV000152176 RCV000549754 RCV000619899 RCV000769874 RCV002478434

NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys)

SNV
Germline

Chr2:178545553

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178417

rs_727503542

3 SubmittersRCV000152178 RCV001131362 RCV001134360 RCV001134362 RCV001134361 RCV001134363 RCV005632257

NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)

SNV
Germline

Chr2:178546106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184386

rs_727504857

7 SubmittersRCV000156207 RCV000727861 RCV001170764 RCV001421063 RCV002362827

NM_001267550.2(TTN):c.94863C>T (p.His31621=)

SNV
Germline

Chr2:178546468

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295527

rs_373871146

17 SubmittersRCV000152180 RCV000246063 RCV000259872 RCV000330140 RCV000333738 RCV000384593 RCV000388220 RCV000415743 RCV001084133 RCV001171237 RCV004532689

NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)

SNV
Germline

Chr2:178546764

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178427

rs_727503545

6 SubmittersRCV000152182 RCV000477611 RCV000726542

NM_001267550.2(TTN):c.93981C>G (p.Val31327=)

SNV
Germline

Chr2:178547645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181625

rs_370894846

13 SubmittersRCV000154891 RCV000727162 RCV000768856 RCV001087854 RCV002362819

NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)

SNV
Germline

Chr2:178547823

Conflicting classifications of pathogenicity

not specified
Myopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183580

rs_200766837

14 SubmittersRCV000155821 RCV000415349 RCV000726977 RCV001086291 RCV001129491 RCV001129490 RCV001129492 RCV001129493 RCV001129494 RCV002362823 RCV003486700

NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)

SNV
Germline

Chr2:178548846

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185183

rs_531432790

11 SubmittersRCV000156609 RCV000643727 RCV001086729 RCV001293089 RCV001171250 RCV002362832 RCV004724938

NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)

SNV
Germline

Chr2:178548942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178440

rs_200141081

12 SubmittersRCV000152188 RCV000172199 RCV000309213 RCV000269133 RCV000367439 RCV000326590 RCV000402112 RCV000619946 RCV000642884 RCV001798477

NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)

SNV
Germline

Chr2:178549332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183087

rs_373099440

12 SubmittersRCV000155586 RCV000714119 RCV001081292 RCV002354372 RCV004534997

NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)

SNV
Germline

Chr2:178551055

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273585

rs_727504646

3 SubmittersRCV000155909 RCV001040492 RCV003162636

NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)

SNV
Germline

Chr2:178551727

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA178447

rs_199505541

8 SubmittersRCV000152190 RCV000246520 RCV000470539 RCV001130320 RCV001130321 RCV001130322 RCV001130319 RCV001130318 RCV003456357 RCV005394514

NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)

SNV
Germline

Chr2:178552158

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184850

rs_727505024

4 SubmittersRCV000156450 RCV000544571 RCV002362831

NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)

SNV
Germline

Chr2:178552673

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181638

rs_201998913

5 SubmittersRCV000154896 RCV000734114 RCV003150810 RCV002362821

NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)

SNV
Germline

Chr2:178552911

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183587

rs_369855092

11 SubmittersRCV000155823 RCV000292921 RCV000289428 RCV000344162 RCV000352439 RCV000387336 RCV000643752 RCV001798515 RCV002354376 RCV004546441

NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)

SNV
Germline

Chr2:178554127

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181649

rs_187460377

10 SubmittersRCV000154899 RCV000618633 RCV000727232 RCV000769893 RCV001079791

NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)

SNV
Germline

Chr2:178557457

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178460

rs_727503551

5 SubmittersRCV000152197 RCV000828891

NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)

SNV
Germline

Chr2:178558217

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181669

rs_143975327

10 SubmittersRCV000154905 RCV000270733 RCV000264981 RCV000329578 RCV000384089 RCV000389752 RCV000457318 RCV002354368 RCV004534969 RCV006436682

NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)

SNV
Germline

Chr2:178560015

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185401

rs_199788826

8 SubmittersRCV000156709 RCV000643058 RCV000768881 RCV001726012 RCV002354383

NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)

SNV
Germline

Chr2:178560616

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181675

rs_201272728

14 SubmittersRCV000154907 RCV000543680 RCV000621827 RCV001132346 RCV001132347 RCV001132343 RCV001132344 RCV001132345 RCV001704124 RCV004534970

NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)

SNV
Germline

Chr2:178561167

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181679

rs_373532064

10 SubmittersRCV000154908 RCV000172222 RCV000542158 RCV001170552 RCV002354370

NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)

SNV
Germline

Chr2:178561480

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183896

rs_727504693

5 SubmittersRCV000155969 RCV001589020 RCV002345511

NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)

SNV
Germline

Chr2:178561734

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184934

rs_727505053

7 SubmittersRCV000156482 RCV000459869 RCV000764308 RCV002345519 RCV003137682 RCV004535010

NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter)

SNV
Germline

Chr2:178563359

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA273672

rs_727505288

1 SubmittersRCV000156817

NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)

SNV
Germline

Chr2:178564194

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178475

rs_199670463

10 SubmittersRCV000152203 RCV000260100 RCV000274661 RCV000332173 RCV000366979 RCV000370450 RCV000643482 RCV000768909 RCV001704096 RCV002345480 RCV004544366

NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)

SNV
Germline

Chr2:178565274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183467

rs_377506142

13 SubmittersRCV000155780 RCV000172245 RCV000291098 RCV000254311 RCV000316713 RCV000385420 RCV000330851 RCV000371276 RCV001078567 RCV001170788 RCV001293186

NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)

SNV
Germline

Chr2:178565431

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA248764

rs_201562505

22 SubmittersRCV000152207 RCV000270152 RCV000273789 RCV000325455 RCV000364915 RCV000369763 RCV000471832 RCV000617421 RCV000769931 RCV000852807 RCV001530137 RCV004532690

NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)

SNV
Germline

Chr2:178566017

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346130

rs_558830502

11 SubmittersRCV000156336 RCV000206691 RCV000296905 RCV000303254 RCV000336649 RCV000401815 RCV000389979 RCV001170791 RCV001311954 RCV002345518 RCV004544452

NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)

SNV
Germline

Chr2:178566722

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178487

rs_140942979

12 SubmittersRCV000152209 RCV000464687 RCV001528773 RCV002336300 RCV004544367

NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)

SNV
Germline

Chr2:178567358

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181703

rs_368270588

8 SubmittersRCV000154914 RCV000725849 RCV001129843 RCV001129842 RCV001129844 RCV001129845 RCV001129846 RCV001426417 RCV002336325 RCV004534971

NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)

SNV
Germline

Chr2:178607676

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178776

rs_549478203

6 SubmittersRCV000152326 RCV000250139 RCV000541819 RCV003137656

NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)

SNV
Germline

Chr2:178609745

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178803

rs_372635204

8 SubmittersRCV000152336 RCV000277665 RCV000292995 RCV000332647 RCV000372898 RCV000387269 RCV000724703 RCV001082902 RCV002426725

NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)

SNV
Germline

Chr2:178611417

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178809

rs_72677250

4 SubmittersRCV000152338 RCV002444629 RCV001704101

NM_001267550.2(TTN):c.49649-11T>C

SNV
Germline

Chr2:178613083

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA183116

rs_727504474

7 SubmittersRCV000155602 RCV001697150 RCV002056092

NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)

SNV
Germline

Chr2:178613756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185526

rs_727505248

4 SubmittersRCV000156768 RCV000725597 RCV002053894 RCV002426760

NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)

SNV
Germline

Chr2:178616911

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178829

rs_727503622

7 SubmittersRCV000152345 RCV000277761 RCV000291298 RCV000330386 RCV000388479 RCV000343952 RCV000553961 RCV003137657 RCV002415642

NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)

SNV
Germline

Chr2:178617135

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183610

rs_377037421

9 SubmittersRCV000155831 RCV000725722 RCV002415669

NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)

SNV
Germline

Chr2:178617971

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184456

rs_727504878

2 SubmittersRCV000156247 RCV000642984

NM_001267550.2(TTN):c.47196G>C (p.Val15732=)

SNV
Germline

Chr2:178618262

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181778

rs_369979598

6 SubmittersRCV000154938 RCV000714040 RCV001089087 RCV002415662

NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)

SNV
Germline

Chr2:178618703

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185646

rs_368057764

10 SubmittersRCV000156822 RCV000279104 RCV000312780 RCV000338432 RCV000407419 RCV000406384 RCV000714039 RCV001087961 RCV001798523 RCV004544459

NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)

SNV
Germline

Chr2:178621551

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295747

rs_72677223

16 SubmittersRCV000154945 RCV000617257 RCV000725294 RCV001082787 RCV001129749 RCV001129751 RCV001129752 RCV001129748 RCV001129750 RCV001798507 RCV004544425

NM_001267550.2(TTN):c.107961T>C (p.His35987=)

SNV
Germline

Chr2:178527027

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295714

rs_377439315

16 SubmittersRCV000154865 RCV000234218 RCV000250627 RCV000287512 RCV000323432 RCV000361840 RCV000381988 RCV000322761 RCV000769834 RCV001086128

NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)

SNV
Germline

Chr2:178527469

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183096

rs_727504465

3 SubmittersRCV000155590 RCV001850129 RCV003441758

NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)

SNV
Germline

Chr2:178528617

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184656

rs_727504949

3 SubmittersRCV000156352 RCV001719980

NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)

SNV
Germline

Chr2:178528924

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183314

rs_727504540

5 SubmittersRCV000155693 RCV000726637 RCV001087390 RCV004544442

NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)

SNV
Germline

Chr2:178570008

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178498

rs_374494927

9 SubmittersRCV000152212 RCV000642829 RCV000727226 RCV001171265 RCV002336302

NM_001267550.2(TTN):c.75762G>T (p.Val25254=)

SNV
Germline

Chr2:178570370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295743

rs_374003257

13 SubmittersRCV000154918 RCV000233495 RCV001079801 RCV001130538 RCV001130539 RCV001130540 RCV001131269 RCV001131270 RCV001171266 RCV002336327

NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)

SNV
Germline

Chr2:178572528

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
6 conditions

Criteria Provided
Conflicting Classifications

CA185568

rs_201804005

13 SubmittersRCV000156784 RCV000172640 RCV000284991 RCV000315675 RCV000340019 RCV000379391 RCV000373849 RCV000415309 RCV000643266 RCV002336337 RCV005863006 RCV005394535

NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)

SNV
Germline

Chr2:178573830

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178513

rs_192962624

12 SubmittersRCV000152220 RCV000642992 RCV001133044 RCV001133041 RCV001133042 RCV001133043 RCV001136490 RCV001311958 RCV002336305 RCV003486674 RCV004532691

NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)

SNV
Germline

Chr2:178575180

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178526

rs_149075285

12 SubmittersRCV000152226 RCV000230428 RCV000620143 RCV001132545 RCV001132546 RCV001132548 RCV001132547 RCV001133458 RCV001719940 RCV004532692

NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)

SNV
Germline

Chr2:178576001

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185670

rs_369503828

12 SubmittersRCV000156831 RCV000262898 RCV000282721 RCV000318111 RCV000342673 RCV000371793 RCV000714084 RCV001087657 RCV001798524 RCV002326892 RCV004544460

NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)

SNV
Germline

Chr2:178576076

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181731

rs_75948012

5 SubmittersRCV000154923 RCV000724396 RCV001088774 RCV002326883

NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)

SNV
Germline

Chr2:178576279

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181734

rs_376870149

5 SubmittersRCV000154924 RCV000226257 RCV001561005 RCV002326884

NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)

SNV
Germline

Chr2:178577471

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181737

rs_201381085

15 SubmittersRCV000154925 RCV000643716 RCV000726203 RCV002326885 RCV003149945

NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)

SNV
Germline

Chr2:178578078

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA181741

rs_200797552

9 SubmittersRCV000154926 RCV000172272 RCV000234385 RCV000248442 RCV000261085 RCV000262197 RCV000316255 RCV000375502 RCV000370118

NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)

SNV
Germline

Chr2:178578835

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA273679

rs_727505352

1 SubmittersRCV000156911

NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)

SNV
Germline

Chr2:178578948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181745

rs_79406408

8 SubmittersRCV000154927 RCV000487687 RCV001086131 RCV001131378 RCV001131380 RCV001131379 RCV001134377 RCV001134378 RCV002321642 RCV003486694

NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)

SNV
Germline

Chr2:178579752

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178570

rs_200146608

5 SubmittersRCV000152243 RCV000552973 RCV001704098 RCV002354350

NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)

SNV
Germline

Chr2:178581777

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178593

rs_371081043

7 SubmittersRCV000152250 RCV000229659 RCV000733490 RCV001132863 RCV001132864 RCV001132865 RCV001132866 RCV001136277 RCV002372001

NM_001267550.2(TTN):c.66160+15C>T

SNV
Germline

Chr2:178582281

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA181751

rs_377288086

6 SubmittersRCV000154929 RCV000299785 RCV000259910 RCV000358279 RCV000333559 RCV000354765 RCV002056066

NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)

SNV
Germline

Chr2:178583057

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA178599

rs_200155485

7 SubmittersRCV000152252 RCV000172283 RCV000298339 RCV000312931 RCV000353195 RCV000404677 RCV000408391 RCV000470625

NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)

SNV
Germline

Chr2:178583154

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA178602

rs_374736305

7 SubmittersRCV000152253 RCV000734883 RCV002362800 RCV005863002

NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser)

SNV
Germline

Chr2:178583811

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178605

rs_370878527

3 SubmittersRCV000152254 RCV001589007

NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)

SNV
Germline

Chr2:178587731

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183601

rs_372267046

8 SubmittersRCV000155828 RCV000469678 RCV001130905 RCV001130906 RCV001130907 RCV001130904 RCV001133875 RCV001293204 RCV002453519 RCV003137672

NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)

SNV
Germline

Chr2:178587968

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Primary dilated cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181764

rs_72646853

19 SubmittersRCV000154933 RCV000243930 RCV000726451 RCV001086769 RCV001133877 RCV001133879 RCV001133876 RCV001133878 RCV001133880 RCV001170815 RCV001293232 RCV001358656 RCV004544423

NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)

SNV
Germline

Chr2:178588782

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178630

rs_184863287

11 SubmittersRCV000152263 RCV000252401 RCV000725199 RCV001083795 RCV001130433 RCV001130434 RCV001130430 RCV001130431 RCV001130432 RCV001798479 RCV004544369

NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)

SNV
Germline

Chr2:178589450

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178633

rs_562680371

8 SubmittersRCV000152264 RCV000339294 RCV000300379 RCV000304060 RCV000392749 RCV000400185 RCV000869565 RCV001704099 RCV002336306 RCV003486675

NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)

SNV
Germline

Chr2:178589695

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA184382

rs_558670891

6 SubmittersRCV000156205 RCV000184687 RCV003149954

NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)

SNV
Germline

Chr2:178590626

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183130

rs_727504479

5 SubmittersRCV000155608 RCV000536562 RCV001719976 RCV002453515

NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)

SNV
Germline

Chr2:178591978

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA178643

rs_727503588

10 SubmittersRCV000152270 RCV000474565 RCV000618262 RCV000765563 RCV001704100 RCV003227676 RCV004532695 RCV004786406

NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)

SNV
Germline

Chr2:178594203

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178656

rs_373527448

8 SubmittersRCV000152275 RCV000643314 RCV000723958 RCV003149926

NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)

SNV
Germline

Chr2:178594523

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178659

rs_186809500

5 SubmittersRCV000152278 RCV001537817 RCV002319447

NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)

SNV
Germline

Chr2:178597604

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA178665

rs_200778464

16 SubmittersRCV000152280 RCV000468153 RCV000726091 RCV000852836 RCV001130069 RCV001130070 RCV001130071 RCV001130072 RCV001130073

NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)

SNV
Germline

Chr2:178599390

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178692

rs_553313488

7 SubmittersRCV000152293 RCV000309495 RCV000347987 RCV000308399 RCV000370125 RCV000397382 RCV000727304 RCV001081455 RCV002433657

NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)

SNV
Germline

Chr2:178600979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181108

rs_140714512

17 SubmittersRCV000154653 RCV000172658 RCV000264643 RCV000298398 RCV000251794 RCV000360237 RCV000299433 RCV000356712 RCV000400539 RCV001085015 RCV004534960

NM_001267550.2(TTN):c.107377+14C>T

SNV
Germline

Chr2:178528260

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA181556

rs_367908657

8 SubmittersRCV000154867 RCV000305717 RCV000335428 RCV000359693 RCV000394286 RCV000400621 RCV001812132 RCV002056064

NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)

SNV
Germline

Chr2:178528875

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181557

rs_373152640

5 SubmittersRCV000154868 RCV001136021 RCV001136022 RCV001136023 RCV001136025 RCV001136024 RCV002415661 RCV004534966 RCV005632266

NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)

SNV
Germline

Chr2:178528931

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183576

rs_377337528

9 SubmittersRCV000155820 RCV000260975 RCV000262328 RCV000322180 RCV000316313 RCV000375521 RCV000542437 RCV000726570 RCV002415668 RCV003149949

NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)

SNV
Germline

Chr2:178530494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183679

rs_727504609

6 SubmittersRCV000155862 RCV000724768 RCV001085039 RCV004019866

NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)

SNV
Germline

Chr2:178570628

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181717

rs_375204371

7 SubmittersRCV000154919 RCV000725368 RCV000768927 RCV001087044 RCV002336328

NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)

SNV
Germline

Chr2:178571801

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181720

rs_368530092

5 SubmittersRCV000154920 RCV000643792 RCV000724584 RCV000769943 RCV002336329

NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)

SNV
Germline

Chr2:178573545

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181723

rs_200317412

13 SubmittersRCV000154921 RCV000621332 RCV000727739 RCV000769954 RCV001082619 RCV004534972

NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)

SNV
Germline

Chr2:178574409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185293

rs_540161344

8 SubmittersRCV000156662 RCV000184787 RCV000764319 RCV002326891

NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)

SNV
Germline

Chr2:178574524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178519

rs_727503564

5 SubmittersRCV000152222 RCV000184785 RCV000643884 RCV000617839

NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)

SNV
Germline

Chr2:178574811

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273256

rs_727503567

4 SubmittersRCV000152227 RCV000184257 RCV003764933 RCV004724932

NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)

SNV
Germline

Chr2:178576030

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178539

rs_367914610

12 SubmittersRCV000152232 RCV000457813 RCV000620418 RCV000768945 RCV000997409

NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)

SNV
Germline

Chr2:178576268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178543

rs_368867993

11 SubmittersRCV000152233 RCV000723936 RCV001081781 RCV001130896 RCV001130195 RCV001130196 RCV001130897 RCV001130898 RCV002326873

NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)

SNV
Germline

Chr2:178577664

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183458

rs_534567766

7 SubmittersRCV000155776 RCV000244691 RCV000934827 RCV001170574 RCV001288921

NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)

SNV
Germline

Chr2:178578066

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273260

rs_371678190

7 SubmittersRCV000152238 RCV000184251 RCV000769969 RCV000845462 RCV002288662 RCV002326874 RCV002516063

NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile)

SNV
Germline

Chr2:178578098

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178556

rs_727503573

4 SubmittersRCV000152239 RCV001704097

NM_001267550.2(TTN):c.68208T>A (p.Val22736=)

SNV
Germline

Chr2:178578822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178563

rs_727503575

6 SubmittersRCV000152241 RCV000727192 RCV001089296 RCV001128746 RCV001128745 RCV001128747 RCV001128743 RCV001128744 RCV002321630

NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)

SNV
Germline

Chr2:178578933

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183247

rs_727504520

7 SubmittersRCV000155667 RCV000714077 RCV000643666 RCV004734735

NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)

SNV
Germline

Chr2:178579197

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181748

rs_375538420

12 SubmittersRCV000154928 RCV000232589 RCV000298300 RCV000294934 RCV000352280 RCV000336929 RCV000392745 RCV000619951 RCV001528604

NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)

SNV
Germline

Chr2:178579753

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178574

rs_563233842

8 SubmittersRCV000152244 RCV000172276 RCV000768948 RCV001082358 RCV002371999 RCV004532693

NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)

SNV
Germline

Chr2:178580183

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178580

rs_727503577

9 SubmittersRCV000152246 RCV000308543 RCV000365300 RCV000311951 RCV000343431 RCV000405984 RCV000724292 RCV001406798 RCV003149925

NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)

SNV
Germline

Chr2:178581678

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178589

rs_374656017

7 SubmittersRCV000152249 RCV000242806 RCV000724309

NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)

SNV
Germline

Chr2:178582020

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184884

rs_727505036

5 SubmittersRCV000156463 RCV000863688 RCV001507593

NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)

SNV
Germline

Chr2:178583074

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183594

rs_146941600

14 SubmittersRCV000155826 RCV000176704 RCV000252082 RCV000284877 RCV000281491 RCV000336590 RCV000375751 RCV000372440 RCV001081539 RCV001170584 RCV001293077 RCV004535001

NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)

SNV
Germline

Chr2:178583648

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181757

rs_201662134

10 SubmittersRCV000154931 RCV000293736 RCV000316262 RCV000319887 RCV000374365 RCV000389492 RCV000620398 RCV000725861 RCV001081279 RCV001293206 RCV004534973

NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)

SNV
Germline

Chr2:178584830

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183598

rs_188996850

9 SubmittersRCV000155827 RCV000476685 RCV000769975 RCV000733639 RCV002345509

NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)

SNV
Germline

Chr2:178587944

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178623

rs_374727686

6 SubmittersRCV000152260 RCV000460153 RCV000724176 RCV002460047

NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)

SNV
Germline

Chr2:178588660

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178627

rs_727503585

6 SubmittersRCV000152262 RCV000981791 RCV002453495 RCV003137654 RCV004734711

NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)

SNV
Germline

Chr2:178589191

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185719

rs_727505316

6 SubmittersRCV000156857 RCV000766984 RCV001798526

NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)

SNV
Germline

Chr2:178589508

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA273264

rs_727503586

6 SubmittersRCV000152265 RCV000328776 RCV000621593 RCV000642735

NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)

SNV
Germline

Chr2:178589733

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183604

rs_376455983

4 SubmittersRCV000155829 RCV000687436 RCV002225457 RCV002453520

NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)

SNV
Germline

Chr2:178590436

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178640

rs_527704660

9 SubmittersRCV000152267 RCV000535645 RCV000714063 RCV001128979 RCV001128975 RCV001128976 RCV001128977 RCV001128978 RCV002453496 RCV003486676

NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)

SNV
Germline

Chr2:178590587

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211117

rs_201167216

15 SubmittersRCV000152268 RCV000461956 RCV000618661 RCV001085555 RCV001132664 RCV001171295 RCV001132661 RCV001132662 RCV001132663 RCV001136052 RCV004532694

NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)

SNV
Germline

Chr2:178590696

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346113

rs_6706088

13 SubmittersRCV000152269 RCV000206824 RCV000252438 RCV000289179 RCV000294997 RCV000329660 RCV000333638 RCV000381251 RCV001532421

NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)

SNV
Germline

Chr2:178591882

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185068

rs_727505101

6 SubmittersRCV000156550 RCV000620764 RCV000727465 RCV001080269

NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)

SNV
Germline

Chr2:178592175

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181768

rs_369476725

11 SubmittersRCV000154934 RCV000643026 RCV000765564 RCV000786261 RCV001129407 RCV001129408 RCV001129409 RCV001129410 RCV001129411 RCV004734727

NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)

SNV
Germline

Chr2:178593412

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181771

rs_367816473

4 SubmittersRCV000154936 RCV000477041 RCV001589013

NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)

SNV
Germline

Chr2:178593647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184755

rs_727504980

5 SubmittersRCV000156395 RCV000728474 RCV001498359 RCV002321650

NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)

SNV
Germline

Chr2:178593974

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183607

rs_186563991

11 SubmittersRCV000155830 RCV000251954 RCV000272410 RCV000308825 RCV000333302 RCV000357685 RCV000363270 RCV000756849 RCV001080531 RCV001798516

NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)

SNV
Germline

Chr2:178594167

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178653

rs_201505306

13 SubmittersRCV000152274 RCV000172300 RCV000314770 RCV000366954 RCV000306594 RCV000399359 RCV000363653 RCV000621257 RCV001083650 RCV001170367 RCV004532696

NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)

SNV
Germline

Chr2:178594477

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA248768

rs_368025965

8 SubmittersRCV000152276 RCV000714057 RCV002319446

NM_001267550.2(TTN):c.57263-4C>T

SNV
Germline

Chr2:178597823

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178678

rs_373552048

7 SubmittersRCV000152284 RCV000727743 RCV001086965 RCV002433656 RCV004544370

NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)

SNV
Germline

Chr2:178598647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295536

rs_372019333

14 SubmittersRCV000152288 RCV000472628 RCV000617550 RCV001081047 RCV001133744 RCV001135232 RCV001135231 RCV001135233 RCV001135234 RCV001170374

NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)

SNV
Germline

Chr2:178530896

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183238

rs_530537991

7 SubmittersRCV000155663 RCV000457467 RCV000617881 RCV001529846 RCV004534998

NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)

SNV
Germline

Chr2:178531701

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA184576

rs_727504918

5 SubmittersRCV000156307 RCV000529644 RCV002408696 RCV003137678 RCV003486707

NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)

SNV
Germline

Chr2:178533864

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181573

rs_56173891

19 SubmittersRCV000154873 RCV000284033 RCV000342470 RCV000376165 RCV000405890 RCV000289664 RCV000336674 RCV000617769 RCV000723860 RCV001085767 RCV001798491

NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)

SNV
Germline

Chr2:178534095

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181577

rs_200430493

9 SubmittersRCV000154874 RCV000554691 RCV000732023 RCV002390348

NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)

SNV
Germline

Chr2:178534591

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183840

rs_727504677

4 SubmittersRCV000155946 RCV000725607 RCV001473677 RCV002390361

NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)

SNV
Germline

Chr2:178534690

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181580

rs_201246720

16 SubmittersRCV000154876 RCV000242624 RCV000725822 RCV001080673 RCV001128729 RCV001128728 RCV001128730 RCV001128727 RCV001131349 RCV004544418

NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)

SNV
Germline

Chr2:178535334

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181583

rs_201421156

14 SubmittersRCV000154877 RCV000185080 RCV000557649 RCV000621205 RCV002498745 RCV003486693 RCV004734726

NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)

SNV
Germline

Chr2:178537062

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183919

rs_727504698

4 SubmittersRCV000155976 RCV000642912 RCV000768839 RCV004019869

NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)

SNV
Germline

Chr2:178538667

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181590

rs_368686031

14 SubmittersRCV000154880 RCV000289024 RCV000251384 RCV000344022 RCV000347379 RCV000383410 RCV000408192 RCV000725315 RCV001082468 RCV003149941

NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)

SNV
Germline

Chr2:178539069

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178391

rs_727503538

9 SubmittersRCV000152169 RCV000462130 RCV000620518 RCV000764303 RCV001701771 RCV004532688

NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)

SNV
Germline

Chr2:178539509

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181593

rs_373853269

11 SubmittersRCV000154882 RCV000285402 RCV000316176 RCV000319111 RCV000355714 RCV000380063 RCV000727742 RCV001085608 RCV002362816 RCV003149942

NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)

SNV
Germline

Chr2:178539600

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178394

rs_191054704

10 SubmittersRCV000152170 RCV000727745 RCV001088064 RCV001293127 RCV002371998 RCV003486672

NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)

SNV
Germline

Chr2:178539798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181596

rs_199805060

15 SubmittersRCV000154883 RCV000172609 RCV000242078 RCV000269738 RCV000296814 RCV000327104 RCV000349128 RCV000388775 RCV001080422 RCV004544419

NM_001267550.2(TTN):c.97492+1G>C

SNV
Germline

Chr2:178542263

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273675

rs_727505319

8 SubmittersRCV000156861 RCV000184284 RCV000462323 RCV000769868 RCV001788053 RCV002362834

NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)

SNV
Germline

Chr2:178545528

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181608

rs_59148238

14 SubmittersRCV000154887 RCV000172616 RCV000852786 RCV001083749 RCV001131357 RCV001131358 RCV001131359 RCV001131360 RCV001131361 RCV002362817 RCV004544420

NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)

SNV
Germline

Chr2:178546263

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178420

rs_727503543

4 SubmittersRCV000152179 RCV000841935 RCV002362795

NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)

SNV
Germline

Chr2:178546904

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185365

rs_727505200

3 SubmittersRCV000156693 RCV005213215

NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys)

SNV
Germline

Chr2:178547581

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178433

rs_727503549

5 SubmittersRCV000152186 RCV000618452 RCV001129398 RCV001129397 RCV001129399 RCV001129395 RCV001129396 RCV003480065

NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)

SNV
Germline

Chr2:178547654

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA183275

rs_727504528

7 SubmittersRCV000155678 RCV000249570 RCV000725871 RCV001081058

NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)

SNV
Germline

Chr2:178547901

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178436

rs_369899675

6 SubmittersRCV000152187 RCV001704095 RCV002362797

NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)

SNV
Germline

Chr2:178548444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184587

rs_727504923

5 SubmittersRCV000156313 RCV000184991 RCV000643636 RCV002372023

NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)

SNV
Germline

Chr2:178548820

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183583

rs_200476500

10 SubmittersRCV000155822 RCV000172198 RCV000286331 RCV000282938 RCV000380708 RCV000322760 RCV000377371 RCV000466689 RCV002362824 RCV005625340

NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)

SNV
Germline

Chr2:178548930

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiomyopathy
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA181628

rs_373727636

13 SubmittersRCV000154892 RCV000458064 RCV000620291 RCV000725299 RCV001133263 RCV001133264 RCV001133265 RCV001133267 RCV001133266 RCV002467607 RCV003149943 RCV005621892

NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)

SNV
Germline

Chr2:178548949

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178444

rs_370541682

6 SubmittersRCV000152189 RCV000533851 RCV001559358 RCV002362798

NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val)

SNV
Germline

Chr2:178549843

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185748

rs_535151633

3 SubmittersRCV000156873 RCV000727085 RCV001130621 RCV001130622 RCV001130618 RCV001130620 RCV001130619

NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)

SNV
Germline

Chr2:178550106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183824

rs_727504672

9 SubmittersRCV000155940 RCV000172202 RCV000264757 RCV000270671 RCV000322052 RCV000361658 RCV000362406 RCV000768866 RCV002362825

NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)

SNV
Germline

Chr2:178550195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183496

rs_553668520

9 SubmittersRCV000155789 RCV000184979 RCV000249201 RCV000769879 RCV001080345 RCV004535000

NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)

SNV
Germline

Chr2:178552114

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181622

rs_727504439

4 SubmittersRCV000154890 RCV000727239 RCV001088394 RCV002362818

NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)

SNV
Germline

Chr2:178553061

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273662

rs_727505224

3 SubmittersRCV000156722 RCV002515035 RCV003162647

NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)

SNV
Germline

Chr2:178553747

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181646

rs_369279892

5 SubmittersRCV000154898 RCV002223793 RCV002362822

NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)

SNV
Germline

Chr2:178554093

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178450

rs_200639218

17 SubmittersRCV000152193 RCV000172210 RCV000532604 RCV000765549 RCV003149922

NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)

SNV
Germline

Chr2:178554139

Conflicting classifications of pathogenicity

not specified
Abnormality of neuronal migration
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181653

rs_200193877

10 SubmittersRCV000154900 RCV000201380 RCV000230724 RCV000621138 RCV000710279

NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)

SNV
Germline

Chr2:178555119

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181662

rs_140201636

10 SubmittersRCV000154902 RCV000464472 RCV001136036 RCV001136032 RCV001136034 RCV001136033 RCV001136035 RCV002354367 RCV004534968 RCV006436681

NM_001267550.2(TTN):c.88306+1G>C

SNV
Germline

Chr2:178556847

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA273251

rs_727503550

3 SubmittersRCV000152195 RCV001850077 RCV005410888

NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)

SNV
Germline

Chr2:178557384

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181666

rs_202001776

7 SubmittersRCV000154903 RCV000622203 RCV000643154 RCV000727801

NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)

SNV
Germline

Chr2:178558348

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295821

rs_374902148

10 SubmittersRCV000155824 RCV000768875 RCV000862693 RCV002262759 RCV002354377

NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)

SNV
Germline

Chr2:178559432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184210

rs_727504793

7 SubmittersRCV000156119 RCV000727138 RCV001086613 RCV002354380

NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)

SNV
Germline

Chr2:178560129

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181672

rs_374022393

8 SubmittersRCV000154906 RCV000477626 RCV000733310 RCV000768882 RCV002354369

NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)

SNV
Germline

Chr2:178561239

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181682

rs_187270666

13 SubmittersRCV000154909 RCV000472564 RCV000617218 RCV000769915 RCV001133355 RCV001134826 RCV001134827 RCV001134829 RCV001134828 RCV001528765 RCV004544421

NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)

SNV
Germline

Chr2:178561984

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181685

rs_201348580

11 SubmittersRCV000154910 RCV000172226 RCV000225816 RCV000295690 RCV000299304 RCV000356815 RCV000348240 RCV000404249 RCV002345503

NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)

SNV
Germline

Chr2:178563322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181694

rs_199929362

10 SubmittersRCV000154912 RCV000172232 RCV000260853 RCV000297223 RCV000314942 RCV000391203 RCV000346437 RCV000619231 RCV001082864 RCV003149944

NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)

SNV
Germline

Chr2:178564567

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183299

rs_142391957

7 SubmittersRCV000155688 RCV000726467 RCV002345506

NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)

SNV
Germline

Chr2:178564811

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273651

rs_557312035

8 SubmittersRCV000209674 RCV000642760 RCV002223189 RCV002345521 RCV002492596 RCV003149958

NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)

SNV
Germline

Chr2:178565188

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185794

rs_200406978

10 SubmittersRCV000156898 RCV000172243 RCV000349857 RCV000310296 RCV000313729 RCV000400261 RCV000364729 RCV000769929 RCV001086890 RCV002345526 RCV004544461

NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)

SNV
Germline

Chr2:178565416

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA273669

rs_727505284

8 SubmittersRCV000156813 RCV000261915 RCV000642734 RCV002345525 RCV004535017 RCV006645798

NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)

SNV
Germline

Chr2:178567277

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178495

rs_139953862

18 SubmittersRCV000152211 RCV000287130 RCV000299956 RCV000339540 RCV000345493 RCV000379204 RCV000725001 RCV001079314 RCV003149924 RCV002336301

NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)

SNV
Germline

Chr2:178569567

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181714

rs_372963832

4 SubmittersRCV000154917 RCV001289392 RCV002336326

NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)

SNV
Germline

Chr2:178607633

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178772

rs_200387466

9 SubmittersRCV000152325 RCV000727183 RCV001087840 RCV001170609 RCV002453499 RCV004544372

NM_001267550.2(TTN):c.52406-6T>A

SNV
Germline

Chr2:178608483

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184132

rs_727504767

2 SubmittersRCV000156079 RCV001435686

NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)

SNV
Germline

Chr2:178609304

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178794

rs_567781604

6 SubmittersRCV000152333 RCV000724961

NM_001267550.2(TTN):c.51739+1G>C

SNV
Germline

Chr2:178609683

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA273614

rs_727504799

6 SubmittersRCV000156125 RCV000770016 RCV002426753 RCV002516148 RCV003229813 RCV004786413

NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)

SNV
Germline

Chr2:178611515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178813

rs_191539637

22 SubmittersRCV000152339 RCV000172664 RCV000276790 RCV000328242 RCV000331815 RCV000382730 RCV000367766 RCV000622012 RCV001086129 RCV001837462 RCV004544373 RCV006555499

NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)

SNV
Germline

Chr2:178611829

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178820

rs_138896856

5 SubmittersRCV000152342 RCV000532690 RCV000836249 RCV001130784 RCV001133746 RCV001133747 RCV001130783 RCV001133745

NM_001267550.2(TTN):c.50249-15T>G

SNV
Germline

Chr2:178612177

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184032

rs_727504732

2 SubmittersRCV000156027 RCV003764962

NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys)

SNV
Germline

Chr2:178613917

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184773

rs_727504986

2 SubmittersRCV000156403 RCV000839534

NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)

SNV
Germline

Chr2:178615748

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183909

rs_376273101

12 SubmittersRCV000155973 RCV000172667 RCV000242630 RCV001085935 RCV001128852 RCV001128853 RCV001135859 RCV001135860 RCV001135861 RCV004535005

NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu)

SNV
Germline

Chr2:178616997

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA178833

rs_727503623

8 SubmittersRCV000152346 RCV001729411 RCV002478437

NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)

SNV
Germline

Chr2:178617228

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183614

rs_371943746

10 SubmittersRCV000155832 RCV000471687 RCV000618664 RCV000725815 RCV001132677 RCV001132678 RCV001132679 RCV001132680 RCV001136068

NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)

SNV
Germline

Chr2:178618622

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181794

rs_368502650

9 SubmittersRCV000154943 RCV000205370 RCV001719966 RCV002415664 RCV004534974

NM_001267550.2(TTN):c.45895+1G>A

SNV
Germline

Chr2:178620714

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA273576

rs_727504589

1 SubmittersRCV000155762

NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)

SNV
Germline

Chr2:178622684

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA185817

rs_727505350

7 SubmittersRCV000156906 RCV000620569 RCV000705371 RCV000725890 RCV004764904 RCV005625342

NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)

SNV
Germline

Chr2:178624691

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181807

rs_369800903

10 SubmittersRCV000154948 RCV000725872 RCV001087758 RCV002408690 RCV003149946 RCV004534975

NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)

SNV
Germline

Chr2:178630241

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181813

rs_192766485

23 SubmittersRCV000154951 RCV000209622 RCV000415667 RCV000415702 RCV000621229 RCV000725365 RCV000769013 RCV001085058 RCV001130785 RCV001130087 RCV001130088 RCV001130089

NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)

SNV
Germline

Chr2:178632294

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273562

rs_727504499

4 SubmittersRCV000155637 RCV001216159 RCV002399552 RCV004700482

NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)

SNV
Germline

Chr2:178633295

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181817

rs_369959066

11 SubmittersRCV000154952 RCV000253166 RCV000228754 RCV001135518 RCV001135519 RCV001134011 RCV001134013 RCV001134012 RCV001171015 RCV001719967

NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)

SNV
Germline

Chr2:178633468

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184077

rs_550471556

5 SubmittersRCV000156052 RCV000292039 RCV000285996 RCV000341059 RCV000346971 RCV000456625 RCV000401479 RCV000617426 RCV005003502

NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)

SNV
Germline

Chr2:178634818

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183622

rs_374683153

5 SubmittersRCV000155835 RCV000463510 RCV001697117

NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)

SNV
Germline

Chr2:178635231

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295755

rs_186699871

11 SubmittersRCV000154953 RCV000245212 RCV000309522 RCV000366575 RCV000369715 RCV000269359 RCV000308082 RCV001079462 RCV000845346

NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)

SNV
Germline

Chr2:178636561

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181820

rs_143049740

12 SubmittersRCV000154954 RCV000864708 RCV001131536 RCV001131538 RCV001131537 RCV001134530 RCV001134531 RCV001727605 RCV002390342

NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)

SNV
Germline

Chr2:178637393

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178861

rs_191699632

8 SubmittersRCV000152356 RCV000556771 RCV001719941 RCV002381478

NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)

SNV
Germline

Chr2:178642293

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178865

rs_571348685

8 SubmittersRCV000152357 RCV000725706 RCV001089127 RCV002381479 RCV004734713

NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)

SNV
Germline

Chr2:178645993

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183913

rs_727504696

3 SubmittersRCV000155974 RCV000643260 RCV000770048

NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)

SNV
Germline

Chr2:178650771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178871

rs_148140756

10 SubmittersRCV000152359 RCV000172670 RCV001086600 RCV001129202 RCV001129203 RCV001129204 RCV001129205 RCV001131897 RCV003486680

NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)

SNV
Germline

Chr2:178651290

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178875

rs_190461403

4 SubmittersRCV000152360 RCV000228409 RCV001704102

NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)

SNV
Germline

Chr2:178651699

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181830

rs_374394719

6 SubmittersRCV000154957 RCV000531792 RCV001589014 RCV003149947

NM_001267550.2(TTN):c.39276G>A (p.Pro13092=)

SNV
Germline

Chr2:178652115

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181834

rs_369002632

5 SubmittersRCV000154959 RCV000473560 RCV003884366 RCV004534976

NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)

SNV
Germline

Chr2:178659037

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178887

rs_72650057

6 SubmittersRCV000152365 RCV000458579 RCV000725663 RCV004734714

NM_001267550.2(TTN):c.34709-1G>A

SNV
Germline

Chr2:178673711

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178899

rs_727503634

6 SubmittersRCV000152369 RCV000477440 RCV005628232 RCV005237587 RCV005860015 RCV005632259

NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)

SNV
Germline

Chr2:178677720

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178900

rs_551911856

4 SubmittersRCV000152370 RCV001657861

NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)

SNV
Germline

Chr2:178678486

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183625

rs_374449452

10 SubmittersRCV000155836 RCV000725087 RCV001084589 RCV003486701 RCV004734738

NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)

SNV
Germline

Chr2:178682838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA181838

rs_201991864

9 SubmittersRCV000154961 RCV000172363 RCV000643341 RCV000770064 RCV001130349 RCV001130351 RCV001130350 RCV001130352 RCV001135400

NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)

SNV
Germline

Chr2:178684711

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181841

rs_150733188

14 SubmittersRCV000154962 RCV000206371 RCV000244036 RCV001134139 RCV001134140 RCV001135637 RCV001135638 RCV001135639 RCV001531333 RCV004544427

NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)

SNV
Germline

Chr2:178689077

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181845

rs_371452173

7 SubmittersRCV000154963 RCV000724173 RCV001087214

NM_001267550.2(TTN):c.31071C>T (p.His10357=)

SNV
Germline

Chr2:178696001

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178917

rs_368973334

10 SubmittersRCV000152378 RCV000460828 RCV000726543 RCV003149930 RCV004532700

NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)

SNV
Germline

Chr2:178696215

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181851

rs_369094355

7 SubmittersRCV000154965 RCV000643366 RCV000724537

NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)

SNV
Germline

Chr2:178710910

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181861

rs_373065549

7 SubmittersRCV000154968 RCV000556673 RCV000769901 RCV001719968

NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)

SNV
Germline

Chr2:178711143

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178940

rs_190600127

6 SubmittersRCV000152388 RCV000643023 RCV000769903 RCV001804863

NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)

SNV
Germline

Chr2:178711983

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183235

rs_727504515

6 SubmittersRCV000155661 RCV000724980

NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)

SNV
Germline

Chr2:178712154

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178943

rs_372820178

4 SubmittersRCV000152389 RCV001564094

NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)

SNV
Germline

Chr2:178713206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181854

rs_370973715

6 SubmittersRCV000154966 RCV000725629 RCV001470069

NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)

SNV
Germline

Chr2:178713316

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181869

rs_201005813

11 SubmittersRCV000154970 RCV000172685 RCV001083461 RCV001131296 RCV001130564 RCV001131297 RCV001131298 RCV001131299 RCV004544428

NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)

SNV
Germline

Chr2:178714164

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Limb-girdle muscular dystrophy
Distal myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181096

rs_72648989

19 SubmittersRCV000154645 RCV000172380 RCV001083732 RCV001131544 RCV001131546 RCV001131545 RCV001131542 RCV001131543 RCV001170862 RCV005625334 RCV005625335 RCV004534959

NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)

SNV
Germline

Chr2:178718042

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178960

rs_201571580

19 SubmittersRCV000152396 RCV000172688 RCV000246789 RCV001079307 RCV001133075 RCV001132154 RCV001133076 RCV001132152 RCV001132153 RCV002225086 RCV003486682

NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)

SNV
Germline

Chr2:178718484

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181873

rs_190192954

5 SubmittersRCV000154972 RCV000531149 RCV001704126

NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)

SNV
Germline

Chr2:178718815

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273620

rs_727504843

2 SubmittersRCV000156186 RCV001054543

NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)

SNV
Germline

Chr2:178719425

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA181876

rs_201653851

8 SubmittersRCV000154973 RCV000287568 RCV000384268 RCV000326198 RCV000327268 RCV000387819 RCV000725482 RCV001084561 RCV005394524

NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)

SNV
Germline

Chr2:178720952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181883

rs_191854953

4 SubmittersRCV000154975 RCV000725008 RCV001442541 RCV004734729

NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)

SNV
Germline

Chr2:178720990

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178971

rs_367826445

12 SubmittersRCV000152399 RCV000172690 RCV000247819 RCV000261369 RCV000273970 RCV000316577 RCV000368549 RCV000369809 RCV001085387 RCV004532701

NM_001267550.2(TTN):c.22240+7A>C

SNV
Germline

Chr2:178722652

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181887

rs_368101794

8 SubmittersRCV000154977 RCV000869214 RCV001134293 RCV001134289 RCV001134290 RCV001134291 RCV001134292 RCV001529553

NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)

SNV
Germline

Chr2:178723552

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
TTN-related disorder
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA181891

rs_189951108

18 SubmittersRCV000154980 RCV000172692 RCV000473052 RCV000852895 RCV001170082 RCV004534978 RCV005625336

NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)

SNV
Germline

Chr2:178724111

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295767

rs_202089818

12 SubmittersRCV000154983 RCV000312387 RCV000343275 RCV000365169 RCV000392004 RCV000402063 RCV000725719 RCV001081065 RCV001170085

NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)

SNV
Germline

Chr2:178727196

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184160

rs_727504776

4 SubmittersRCV000156093 RCV001498761 RCV003137675

NM_001267550.2(TTN):c.19426+2T>A

SNV
Germline

Chr2:178728498

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA185292

rs_727505178

6 SubmittersRCV000156661 RCV000729690 RCV002222411 RCV003764978 RCV003989334

NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)

SNV
Germline

Chr2:178729022

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181908

rs_192553687

10 SubmittersRCV000154987 RCV000232825 RCV000724663 RCV001129647 RCV001132363 RCV001129645 RCV001129646 RCV001132364

NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)

SNV
Germline

Chr2:178729378

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181912

rs_375652574

4 SubmittersRCV000154989 RCV000836064

NM_001267550.2(TTN):c.18307+12A>G

SNV
Germline

Chr2:178730081

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA181919

rs_376899412

4 SubmittersRCV000154991 RCV001133633 RCV001133635 RCV001133637 RCV001133634 RCV001133636 RCV001719969 RCV002056068

NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)

SNV
Germline

Chr2:178730727

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181923

rs_72648945

8 SubmittersRCV000154993 RCV000468325 RCV000727723

NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)

SNV
Germline

Chr2:178731122

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183639

rs_185962498

14 SubmittersRCV000155840 RCV000179198 RCV001084052 RCV001133776 RCV001135264 RCV001133777 RCV001135263 RCV001135265 RCV001170644 RCV001293083 RCV004535002

NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)

SNV
Germline

Chr2:178732106

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181927

rs_727504441

5 SubmittersRCV000154994 RCV000643826 RCV000770095 RCV001131069 RCV001131071 RCV001131068 RCV001131070 RCV001131067 RCV004546440

NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg)

SNV
Germline

Chr2:178732581

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183916

rs_727504697

2 SubmittersRCV000155975 RCV000172405

NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)

SNV
Germline

Chr2:178733085

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181933

rs_200941841

10 SubmittersRCV000154996 RCV000725276 RCV001087743 RCV003486696

NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)

SNV
Germline

Chr2:178738151

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179001

rs_727503652

9 SubmittersRCV000152410 RCV000560224 RCV000725300 RCV002381481 RCV003486683

NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)

SNV
Germline

Chr2:178739349

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183643

rs_183328495

8 SubmittersRCV000155841 RCV000617889 RCV000727231 RCV000770104 RCV001086967 RCV004544444

NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)

SNV
Germline

Chr2:178739451

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179010

rs_188071134

7 SubmittersRCV000152413 RCV000643700 RCV000770105 RCV001569296 RCV002444630

NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg)

SNV
Germline

Chr2:178739734

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA179019

rs_727503655

3 SubmittersRCV000152416

NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)

SNV
Germline

Chr2:178739968

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179023

rs_727503656

3 SubmittersRCV000152417 RCV000545106 RCV003884364

NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)

SNV
Germline

Chr2:178740344

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179026

rs_377063950

5 SubmittersRCV000152418 RCV000643407 RCV001358499 RCV002326875

NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)

SNV
Germline

Chr2:178740485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181936

rs_201437752

20 SubmittersRCV000154998 RCV000172703 RCV000621842 RCV000852922 RCV001085765 RCV001798510

NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)

SNV
Germline

Chr2:178740832

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179032

rs_112009206

9 SubmittersRCV000152421 RCV000727744 RCV002321631 RCV001798484 RCV004544375

NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)

SNV
Germline

Chr2:178741445

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA181940

rs_186624523

13 SubmittersRCV000154999 RCV000619410 RCV000713965 RCV000769092 RCV001328736

NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn)

SNV
Germline

Chr2:178741477

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179048

rs_727503661

4 SubmittersRCV000152427 RCV000769093 RCV000842373

NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)

SNV
Germline

Chr2:178741793

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179055

rs_375103237

6 SubmittersRCV000152429 RCV000618488 RCV000734067

NM_133379.5(TTN):c.16613G>A (p.Arg5538His)

SNV
Germline

Chr2:178745787

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA179058

rs_145932311

6 SubmittersRCV000152430 RCV000172705 RCV001293239 RCV005394516

NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln)

SNV
Germline

Chr2:178746006

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179064

rs_148147002

3 SubmittersRCV000152432 RCV001719942

NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)

SNV
Germline

Chr2:178746825

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA179079

rs_62179016

10 SubmittersRCV000152437 RCV000172426 RCV005394517

NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)

SNV
Germline

Chr2:178748322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA181950

rs_139486133

10 SubmittersRCV000155002 RCV000172711 RCV002221203

NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg)

SNV
Germline

Chr2:178748811

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183203

rs_200066725

4 SubmittersRCV000155646 RCV001559894

NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly)

SNV
Germline

Chr2:178749676

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179121

rs_541264551

5 SubmittersRCV000152452 RCV003114301 RCV004532705

NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)

SNV
Germline

Chr2:178751146

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179148

rs_144209883

7 SubmittersRCV000152461 RCV001812125 RCV004544378

NM_133379.5(TTN):c.10684T>G (p.Ser3562Ala)

SNV
Germline

Chr2:178751716

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA179156

rs_727503673

2 SubmittersRCV000152466

NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)

SNV
Germline

Chr2:178632993

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184461

rs_557125278

6 SubmittersRCV000156249 RCV000862712 RCV001697085 RCV004544451

NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)

SNV
Germline

Chr2:178636754

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181823

rs_184713215

9 SubmittersRCV000154955 RCV000252544 RCV000467649 RCV001134532 RCV001135955 RCV001135956 RCV001135958 RCV001135957 RCV001697149 RCV001798508

NM_001267550.2(TTN):c.40877-7A>G

SNV
Germline

Chr2:178637426

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185368

rs_727505201

4 SubmittersRCV000156694 RCV000938441 RCV001657892

NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)

SNV
Germline

Chr2:178651534

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Supraventricular tachycardia
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181826

rs_72650064

19 SubmittersRCV000154956 RCV000157561 RCV000243216 RCV000724471 RCV000852863 RCV001080889 RCV001131898 RCV001131899 RCV001132870 RCV001132871 RCV001132872 RCV001798509 RCV004544426

NM_001267550.2(TTN):c.39044-9T>A

SNV
Germline

Chr2:178652550

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178886

rs_184888200

15 SubmittersRCV000152364 RCV000209245 RCV000725316 RCV001082467 RCV001132139 RCV001132141 RCV001132137 RCV001132138 RCV001132140 RCV003149928

NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile)

SNV
Germline

Chr2:178672443

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA178893

rs_727503633

3 SubmittersRCV000152367 RCV003149929 RCV005625326

NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)

SNV
Germline

Chr2:178678777

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA178903

rs_201120871

12 SubmittersRCV000152371 RCV000515098 RCV000551047 RCV001134978 RCV001134979 RCV001134981 RCV001134980 RCV001134982

NM_001267550.2(TTN):c.33173-4G>A

SNV
Germline

Chr2:178681454

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181837

rs_727504440

8 SubmittersRCV000154960 RCV000642861 RCV001130216 RCV001135257 RCV001135256 RCV001135258 RCV001135259 RCV001528514

NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)

SNV
Germline

Chr2:178682837

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178907

rs_181395238

2 SubmittersRCV000152373 RCV003137658

NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)

SNV
Germline

Chr2:178684038

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA183628

rs_367720439

7 SubmittersRCV000155837 RCV000184455 RCV000765582

NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)

SNV
Germline

Chr2:178684945

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA178910

rs_727503635

2 SubmittersRCV000152374

NM_001267550.2(TTN):c.32095+1G>A

SNV
Germline

Chr2:178689052

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA273278

rs_727503636

6 SubmittersRCV000184202 RCV000727053 RCV001078609 RCV004532699

NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)

SNV
Germline

Chr2:178689113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181848

rs_369932282

5 SubmittersRCV000154964 RCV000829061 RCV001134394 RCV001134396 RCV001134395 RCV001134397 RCV001134393 RCV004734728

NM_001267550.2(TTN):c.31762+4C>T

SNV
Germline

Chr2:178692012

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178916

rs_368538884

5 SubmittersRCV000152377 RCV000541029 RCV001798483

NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)

SNV
Germline

Chr2:178709578

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Supraventricular tachycardia
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181857

rs_371826762

12 SubmittersRCV000154967 RCV000464747 RCV000660516 RCV000725082 RCV000852883 RCV001129954 RCV001130654 RCV001130653 RCV001130652 RCV004534977

NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)

SNV
Germline

Chr2:178709812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178930

rs_202160275

11 SubmittersRCV000152385 RCV000172372 RCV000242706 RCV000265162 RCV000268918 RCV000320266 RCV000328537 RCV000363523 RCV001085700 RCV001170857

NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)

SNV
Germline

Chr2:178711142

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA183901

rs_570608843

7 SubmittersRCV000155971 RCV000461125 RCV001558815 RCV003991467

NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)

SNV
Germline

Chr2:178713119

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178946

rs_727503643

4 SubmittersRCV000152390 RCV001135643 RCV001135644 RCV001135640 RCV001135642 RCV001135641 RCV001429065 RCV003884363

NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)

SNV
Germline

Chr2:178713241

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184422

rs_200325324

8 SubmittersRCV000156230 RCV000157558 RCV000555729 RCV001544671

NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)

SNV
Germline

Chr2:178713964

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178949

rs_199525540

12 SubmittersRCV000152391 RCV000472215 RCV001134286 RCV001134285 RCV001135764 RCV001135762 RCV001135763 RCV001726004

NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)

SNV
Germline

Chr2:178715131

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185534

rs_727505250

4 SubmittersRCV000156771 RCV000643019 RCV000769049

NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)

SNV
Germline

Chr2:178717748

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183632

rs_375209098

9 SubmittersRCV000155838 RCV000526343 RCV000725209 RCV001132967 RCV001132968 RCV001132969 RCV001132970 RCV001136399 RCV002221205 RCV003149951

NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)

SNV
Germline

Chr2:178718054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178964

rs_200103997

17 SubmittersRCV000152397 RCV000172383 RCV000284465 RCV000345184 RCV000346191 RCV000376603 RCV000391562 RCV001086487 RCV003149931 RCV004544374

NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)

SNV
Germline

Chr2:178719315

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA183635

rs_371496970

9 SubmittersRCV000155839 RCV000643751 RCV001134863 RCV001134865 RCV001134862 RCV001134864 RCV001134861 RCV004546442 RCV005888550

NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)

SNV
Germline

Chr2:178719567

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181880

rs_374879942

7 SubmittersRCV000154974 RCV000476615 RCV001840158 RCV001840156 RCV001840155 RCV001840157 RCV003137671

NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)

SNV
Germline

Chr2:178720104

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183290

rs_149523263

7 SubmittersRCV000155684 RCV000865581 RCV001133628 RCV001130664 RCV001130665 RCV001130666 RCV001133627 RCV001589019

NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)

SNV
Germline

Chr2:178720996

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA184389

rs_552951988

10 SubmittersRCV000156208 RCV000248812 RCV000713993 RCV001083518 RCV001130360 RCV001130359 RCV001135406 RCV001135405 RCV001135407 RCV003486706

NM_001267550.2(TTN):c.22817-15T>G

SNV
Germline

Chr2:178721217

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184289

rs_727504821

2 SubmittersRCV000156160 RCV002056114

NM_001267550.2(TTN):c.22241-14A>G

SNV
Germline

Chr2:178722560

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181886

rs_371352901

2 SubmittersRCV000154976 RCV003764948

NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)

SNV
Germline

Chr2:178723556

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184043

rs_727504736

4 SubmittersRCV000156033 RCV001568596

NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro)

SNV
Germline

Chr2:178724102

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA184055

rs_727504741

3 SubmittersRCV000156039 RCV001131670 RCV001128995 RCV001131667 RCV001131668 RCV001131669

NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)

SNV
Germline

Chr2:178724372

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183411

rs_727504579

3 SubmittersRCV000155751 RCV000642848 RCV000725659

NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)

SNV
Germline

Chr2:178725461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181898

rs_201728165

8 SubmittersRCV000154984 RCV000730570 RCV001085049 RCV004534979

NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)

SNV
Germline

Chr2:178728975

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181905

rs_188878341

7 SubmittersRCV000154986 RCV000726949 RCV001087945

NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)

SNV
Germline

Chr2:178729928

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181915

rs_73973139

15 SubmittersRCV000154990 RCV000172696 RCV000852904 RCV001081353 RCV001130672 RCV001130673 RCV001133630 RCV001133631 RCV001133632 RCV004544429

NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)

SNV
Germline

Chr2:178730715

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA181920

rs_374882815

11 SubmittersRCV000154992 RCV000228841 RCV000247714 RCV000713979 RCV001353378

NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)

SNV
Germline

Chr2:178731165

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185428

rs_727505221

6 SubmittersRCV000156719 RCV001547167

NM_001267550.2(TTN):c.16895T>C (p.Ile5632Thr)

SNV
Germline

Chr2:178732074

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA184728

rs_727504971

2 SubmittersRCV000156383

NM_001267550.2(TTN):c.16574G>C (p.Ser5525Thr)

SNV
Germline

Chr2:178732487

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA178981

rs_727503649

2 SubmittersRCV000152402

NM_001267550.2(TTN):c.15497-8T>C

SNV
Germline

Chr2:178733900

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184824

rs_727505010

2 SubmittersRCV000156433 RCV001456018

NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)

SNV
Germline

Chr2:178735749

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA178994

rs_372740215

9 SubmittersRCV000152408 RCV000527685 RCV001087802 RCV001129225 RCV001131921 RCV001131923 RCV001131920 RCV001131922

NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)

SNV
Germline

Chr2:178738144

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA178997

rs_371552518

13 SubmittersRCV000152409 RCV000473338 RCV000726956 RCV002381480 RCV002505157 RCV003149932 RCV003327374

NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)

SNV
Germline

Chr2:178739713

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183646

rs_191968963

9 SubmittersRCV000155842 RCV000732240 RCV001085994 RCV002381498 RCV003486702

NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)

SNV
Germline

Chr2:178739951

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179016

rs_528766978

5 SubmittersRCV000152415 RCV000465956 RCV000770107 RCV001538746 RCV002362801

NM_001267550.2(TTN):c.12887C>T (p.Ser4296Leu)

SNV
Germline

Chr2:178740346

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA179029

rs_727503657

2 SubmittersRCV000152419

NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)

SNV
Germline

Chr2:178741130

Conflicting classifications of pathogenicity

not specified
See cases
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179036

rs_727503659

4 SubmittersRCV000152423 RCV002252006 RCV002453501 RCV003486684

NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)

SNV
Germline

Chr2:178741323

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179042

rs_727503660

6 SubmittersRCV000152425 RCV000727474 RCV001397430 RCV002426726

NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)

SNV
Germline

Chr2:178741895

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183425

rs_727504586

5 SubmittersRCV000155759 RCV000725267 RCV000619548

NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)

SNV
Germline

Chr2:178749421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA179115

rs_144226338

9 SubmittersRCV000152450 RCV000172443 RCV004544377 RCV005394518

NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)

SNV
Germline

Chr2:178749684

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA179124

rs_72647901

8 SubmittersRCV000152453 RCV000172717 RCV004532706 RCV005394519

NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)

SNV
Germline

Chr2:178749850

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179130

rs_145460295

3 SubmittersRCV000152455 RCV000729827

NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)

SNV
Germline

Chr2:178750591

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179142

rs_562658562

4 SubmittersRCV000152459 RCV000172448

NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn)

SNV
Germline

Chr2:178751117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA181956

rs_200816462

5 SubmittersRCV000155004 RCV000172720 RCV005394525

NM_001267550.2(TTN):c.11254+2T>C

SNV
Germline

Chr2:178756220

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181959

rs_199565715

8 SubmittersRCV000155005 RCV000713962 RCV002516117 RCV004544430

NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)

SNV
Germline

Chr2:178756413

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181960

rs_377296133

2 SubmittersRCV000155006 RCV002056069

NM_001267550.2(TTN):c.10104T>G (p.Val3368=)

SNV
Germline

Chr2:178764187

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346125

rs_142460433

12 SubmittersRCV000155007 RCV000617999 RCV000713948 RCV001084308 RCV001133203 RCV001134667 RCV001134668 RCV001133204 RCV001133205 RCV004544431

NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)

SNV
Germline

Chr2:178764267

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179186

rs_727503679

4 SubmittersRCV000152476 RCV000347185 RCV000286556 RCV000322923 RCV000377566 RCV000383088 RCV001798485 RCV003137659

NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)

SNV
Germline

Chr2:178764631

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179196

rs_191708454

5 SubmittersRCV000152478 RCV000540226 RCV001293078 RCV001719943

NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys)

SNV
Germline

Chr2:178766401

Conflicting classifications of pathogenicity

not specified
6 conditions
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181963

rs_371249764

5 SubmittersRCV000155008 RCV000765586 RCV003486697 RCV005632267

NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg)

SNV
Germline

Chr2:178766599

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179217

rs_727503681

6 SubmittersRCV000152482 RCV000861721 RCV001134878 RCV001134874 RCV001134875 RCV001134876 RCV001134877 RCV001171058 RCV004544380

NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)

SNV
Germline

Chr2:178770112

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179245

rs_72647883

11 SubmittersRCV000152489 RCV000464622 RCV001130104 RCV001130105 RCV001130106 RCV001130108 RCV001130107 RCV001170099 RCV001531512 RCV002408676

NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)

SNV
Germline

Chr2:178770478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA181974

rs_143035953

13 SubmittersRCV000155010 RCV000172725 RCV000620190 RCV001086015 RCV001133783 RCV001133785 RCV001135271 RCV001133784 RCV001135272

NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)

SNV
Germline

Chr2:178773322

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179261

rs_727503688

3 SubmittersRCV000152492 RCV001326015 RCV004544381

NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)

SNV
Germline

Chr2:178774108

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179276

rs_145039979

10 SubmittersRCV000152495 RCV000229239 RCV000185187 RCV001293099 RCV001798486 RCV002372004 RCV004734716

NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)

SNV
Germline

Chr2:178776491

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179302

rs_727503693

5 SubmittersRCV000152501 RCV000548358 RCV000724889 RCV002336307

NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)

SNV
Germline

Chr2:178777292

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179317

rs_139192633

10 SubmittersRCV000152504 RCV000232506 RCV000621269 RCV001704105 RCV004544382

NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)

SNV
Germline

Chr2:178777788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179328

rs_151310601

18 SubmittersRCV000152506 RCV000172729 RCV000230032 RCV000769129 RCV000852937 RCV001132893 RCV001132892 RCV001131924 RCV001131925 RCV001131926 RCV002326877

NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)

SNV
Germline

Chr2:178777923

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181985

rs_144672482

6 SubmittersRCV000155012 RCV000643286 RCV001704127

NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)

SNV
Germline

Chr2:178779055

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273280

rs_727503697

3 SubmittersRCV000152508 RCV001359440 RCV002354352

NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)

SNV
Germline

Chr2:178780049

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185269

rs_541811273

3 SubmittersRCV000156651 RCV000723864 RCV001798494

NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)

SNV
Germline

Chr2:178780124

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179349

rs_150667217

12 SubmittersRCV000152511 RCV000172730 RCV000476516 RCV001133208 RCV001133207 RCV001133209 RCV001133206 RCV001133210 RCV001798487 RCV002460048

NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)

SNV
Germline

Chr2:178785717

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA182001

rs_149061352

7 SubmittersRCV000155015 RCV000550907 RCV000727539 RCV001293183 RCV002444639

NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)

SNV
Germline

Chr2:178785954

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179386

rs_533384820

8 SubmittersRCV000152520 RCV000869244 RCV001697080 RCV001798488 RCV001840119 RCV001840120 RCV001840122 RCV001840121 RCV002415644 RCV004734717

NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)

SNV
Germline

Chr2:178786081

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185609

rs_727505277

6 SubmittersRCV000156806 RCV001039267 RCV001331619 RCV002415679 RCV003152593 RCV004719719 RCV006704581

NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)

SNV
Germline

Chr2:178790766

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179396

rs_199778910

8 SubmittersRCV000152522 RCV000643740 RCV000726122 RCV001130242 RCV001130244 RCV001130241 RCV001130243 RCV001130245

NM_001267550.2(TTN):c.1398+4C>T

SNV
Germline

Chr2:178794395

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA179423

rs_368548209

11 SubmittersRCV000152529 RCV000280402 RCV000279380 RCV000337828 RCV000400060 RCV000408421 RCV000725255 RCV002390332 RCV003149933 RCV005863003

NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)

SNV
Germline

Chr2:178794464

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA182011

rs_142414432

11 SubmittersRCV000155017 RCV000232642 RCV000619102 RCV000724953 RCV001131196 RCV001131195 RCV001131197 RCV001131198 RCV001131199

NM_001267550.2(TTN):c.1246-5T>C

SNV
Germline

Chr2:178794556

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA179429

rs_727503707

3 SubmittersRCV000152531 RCV002390333 RCV003764936

NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr)

SNV
Germline

Chr2:178794959

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185027

rs_727505091

3 SubmittersRCV000156534 RCV000643144 RCV002345520

NM_001267550.2(TTN):c.1002C>T (p.Thr334=)

SNV
Germline

Chr2:178795165

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346116

rs_148094198

13 SubmittersRCV000152534 RCV000287830 RCV000347502 RCV000382294 RCV000332417 RCV000389385 RCV000713945 RCV001083824 RCV002390334 RCV004544384

NM_001267550.2(TTN):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr2:178800593

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179445

rs_727503708

3 SubmittersRCV000152536 RCV001170880

NM_001267550.2(TTN):c.17C>T (p.Pro6Leu)

SNV
Germline

Chr2:178804626

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA179456

rs_201490999

3 SubmittersRCV000152540 RCV000765597

NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg)

SNV
Germline

Chr2:178756794

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179171

rs_727503676

3 SubmittersRCV000152472 RCV001550223 RCV004532708

NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)

SNV
Germline

Chr2:178757842

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179177

rs_201735487

7 SubmittersRCV000152474 RCV000468123 RCV001840113 RCV001840114 RCV001840111 RCV001840112 RCV006450030

NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)

SNV
Germline

Chr2:178764245

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA179180

rs_727503678

8 SubmittersRCV000152475 RCV000185219 RCV000458217 RCV002381482 RCV002483322

NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)

SNV
Germline

Chr2:178764607

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179191

rs_201379132

6 SubmittersRCV000152477 RCV000874941 RCV003137660

NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)

SNV
Germline

Chr2:178764704

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179212

rs_556720151

3 SubmittersRCV000152481 RCV000643842 RCV002372002

NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)

SNV
Germline

Chr2:178766596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179222

rs_149755500

13 SubmittersRCV000152483 RCV000172724 RCV000460977 RCV000617183 RCV001171057

NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)

SNV
Germline

Chr2:178767796

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179228

rs_727503682

4 SubmittersRCV000152484 RCV005632260 RCV002372003

NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)

SNV
Germline

Chr2:178768143

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183186

rs_727504501

9 SubmittersRCV000155639 RCV000733861 RCV001293227 RCV002372016 RCV003486699

NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)

SNV
Germline

Chr2:178770267

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181968

rs_146636599

6 SubmittersRCV000155009 RCV000241887 RCV000724308

NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)

SNV
Germline

Chr2:178771258

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179255

rs_374620001

13 SubmittersRCV000152491 RCV000280983 RCV000326911 RCV000296370 RCV000388430 RCV000349014 RCV000534706 RCV001310766 RCV002415643 RCV003486685

NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)

SNV
Germline

Chr2:178776666

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179307

rs_367700246

9 SubmittersRCV000152502 RCV000252820 RCV000302656 RCV000308535 RCV000337667 RCV000362079 RCV000404360 RCV000471450 RCV003137662 RCV004532709

NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)

SNV
Germline

Chr2:178778929

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181990

rs_140760859

10 SubmittersRCV000155013 RCV000172478 RCV000464939 RCV000769134 RCV002354371

NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)

SNV
Germline

Chr2:178779279

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179339

rs_199889888

10 SubmittersRCV000152509 RCV000643675 RCV000725635 RCV000770150 RCV002345483

NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)

SNV
Germline

Chr2:178781130

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179361

rs_375735354

7 SubmittersRCV000152514 RCV001699129 RCV002453503

NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)

SNV
Germline

Chr2:178781199

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA179371

rs_368967197

2 SubmittersRCV000152516

NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile)

SNV
Germline

Chr2:178782836

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179376

rs_368770038

3 SubmittersRCV000152517 RCV005632262

NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)

SNV
Germline

Chr2:178785691

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181995

rs_149155733

5 SubmittersRCV000155014 RCV000727836

NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)

SNV
Germline

Chr2:178790082

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185553

rs_727505256

5 SubmittersRCV000156779 RCV000863658 RCV001447793

NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr2:178792149

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA182006

rs_143030869

9 SubmittersRCV000155016 RCV000172492 RCV000266151 RCV000300150 RCV000305734 RCV000345372 RCV000358208 RCV000643424 RCV002399548

NM_001267550.2(TTN):c.1449C>T (p.Ala483=)

SNV
Germline

Chr2:178793491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179412

rs_141617218

10 SubmittersRCV000152526 RCV000727211 RCV001454113 RCV002390330 RCV004532710

NM_001267550.2(TTN):c.1398+5G>A

SNV
Germline

Chr2:178794394

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179422

rs_542965530

10 SubmittersRCV000152528 RCV000725264 RCV001087826 RCV001798489 RCV002390331

NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)

SNV
Germline

Chr2:178794954

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179430

rs_112266780

5 SubmittersRCV000152532 RCV000467044 RCV001531517 RCV002354353 RCV004544383

NM_001267550.2(TTN):c.1068G>A (p.Glu356=)

SNV
Germline

Chr2:178795099

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179435

rs_144716589

13 SubmittersRCV000152533 RCV000295842 RCV000290052 RCV000316504 RCV000373503 RCV000398298 RCV000530911 RCV000769140 RCV001726005 RCV002408678 RCV004734718

NM_001267550.2(TTN):c.687T>C (p.Phe229=)

SNV
Germline

Chr2:178799714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295779

rs_376527094

16 SubmittersRCV000155018 RCV000726123 RCV001083173 RCV001135891 RCV001135893 RCV001135890 RCV001135892 RCV001135894 RCV002372014 RCV004544432

NM_001267550.2(TTN):c.156C>T (p.Pro52=)

SNV
Germline

Chr2:178802277

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295560

rs_72647842

10 SubmittersRCV000152539 RCV000726251 RCV000769150 RCV001085381 RCV002399534

NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)

SNV
Germline

Chr2:178601712

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA178711

rs_727503600

10 SubmittersRCV000152300 RCV000533354 RCV000727413 RCV000768986 RCV002433661 RCV005025229

NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)

SNV
Germline

Chr2:178601784

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178718

rs_201510986

9 SubmittersRCV000152302 RCV000469348 RCV001528481 RCV002433663

NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg)

SNV
Germline

Chr2:178602528

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178724

rs_377512675

3 SubmittersRCV000152304 RCV000172310

NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)

SNV
Germline

Chr2:178604882

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178730

rs_372686070

9 SubmittersRCV000152309 RCV000619968 RCV000725193 RCV001078725 RCV001798481

NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)

SNV
Germline

Chr2:178605017

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178736

rs_200968679

12 SubmittersRCV000152311 RCV000643272 RCV000725049 RCV001129100 RCV001131770 RCV001131767 RCV001131768 RCV001131769 RCV002453497 RCV003149927

NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)

SNV
Germline

Chr2:178605488

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178743

rs_727503604

7 SubmittersRCV000152313 RCV000462180 RCV000618978 RCV000726541

NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)

SNV
Germline

Chr2:178601104

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273267

rs_727503598

2 SubmittersRCV000152296 RCV005222775

NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)

SNV
Germline

Chr2:178601324

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178702

rs_115867512

10 SubmittersRCV000152297 RCV000226098 RCV000835240 RCV002433659

NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)

SNV
Germline

Chr2:178601716

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178714

rs_200550947

12 SubmittersRCV000152301 RCV000172660 RCV000476468 RCV001798480 RCV002433662

NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)

SNV
Germline

Chr2:178602499

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178721

rs_190830121

18 SubmittersRCV000152303 RCV000243957 RCV000231621 RCV001093062 RCV001131389 RCV001131388 RCV001131390 RCV001131391 RCV001131392 RCV001170601 RCV004528878

NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)

SNV
Germline

Chr2:178604049

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273270

rs_727503602

4 SubmittersRCV000152307 RCV001378774 RCV002483316 RCV002433665

NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)

SNV
Germline

Chr2:178604999

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Ventricular tachycardia
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178733

rs_190574498

13 SubmittersRCV000152310 RCV000532070 RCV000730160 RCV000852518 RCV001129097 RCV001129099 RCV001129096 RCV001129098 RCV001129095 RCV002426723 RCV003486678 RCV004532697

NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)

SNV
Germline

Chr2:178605109

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178740

rs_727503603

8 SubmittersRCV000152312 RCV000553364 RCV000714052 RCV001170605

NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)

SNV
Germline

Chr2:178605274

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA178750

rs_200100660

8 SubmittersRCV000152315 RCV000539449 RCV000727083 RCV001798482 RCV002433666 RCV002483317

NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg)

SNV
Germline

Chr2:178605578

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178753

rs_727503606

4 SubmittersRCV000152316 RCV005632258

NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)

SNV
Germline

Chr2:178605642

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Primary familial dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273273

rs_727503607

8 SubmittersRCV000152318 RCV000184237 RCV000622986 RCV000684992 RCV002453498 RCV003486679

NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)

SNV
Germline

Chr2:178607566

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
not specified
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA302626

rs_185913848

9 SubmittersRCV000172662 RCV000852843 RCV003486723 RCV005404329 RCV005625362

NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)

SNV
Germline

Chr2:178532523

Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235027

rs_727504184

8 SubmittersRCV000177503 RCV000209465 RCV002399536 RCV003764942 RCV005025234 RCV005250024

NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)

SNV
Germline

Chr2:178542865

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA235042

rs_201023432

9 SubmittersRCV000154036 RCV000233400 RCV002362807 RCV002483330 RCV003488402

NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)

SNV
Germline

Chr2:178590169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235093

rs_727504191

5 SubmittersRCV000154061 RCV000723796 RCV001131519 RCV001131521 RCV001131518 RCV001134510 RCV001131520 RCV002453505

NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val)

SNV
Germline

Chr2:178612466

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA235108

rs_727504194

3 SubmittersRCV000723875 RCV004532740

NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)

SNV
Germline

Chr2:178636764

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA235126

rs_727504198

7 SubmittersRCV000560235 RCV000618763 RCV000760496 RCV003453148

NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)

SNV
Germline

Chr2:178537127

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA235033

rs_372302484

5 SubmittersRCV000154032 RCV002381486 RCV003226218

NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)

SNV
Germline

Chr2:178548382

Conflicting classifications of pathogenicity

Condition: not provided
Left ventricular hypertrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA235048

rs_199663613

7 SubmittersRCV000154038 RCV000678760 RCV002372007 RCV004532739

NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)

SNV
Germline

Chr2:178635975

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA235123

rs_375474669

8 SubmittersRCV000464514 RCV000621883 RCV000710276 RCV001798493 RCV005406851

NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)

SNV
Germline

Chr2:178542799

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235039

rs_575939045

8 SubmittersRCV000154035 RCV000460324 RCV000723859 RCV002372006

NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)

SNV
Germline

Chr2:178565578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295646

rs_185887755

9 SubmittersRCV000259093 RCV000723773 RCV001132946 RCV001132948 RCV001132950 RCV001132947 RCV001132949 RCV002345491 RCV003764943 RCV004734722

NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)

SNV
Germline

Chr2:178530739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235024

rs_372521529

7 SubmittersRCV000215889 RCV000723770 RCV001086310 RCV001170282 RCV002408683

NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)

SNV
Germline

Chr2:178533511

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235030

rs_371535721

8 SubmittersRCV000222566 RCV000725626 RCV001086398 RCV002390341

NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)

SNV
Germline

Chr2:178560107

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA235054

rs_369528150

7 SubmittersRCV000617188 RCV000723788 RCV001085457 RCV005404273

NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)

SNV
Germline

Chr2:178565579

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235060

rs_189790119

8 SubmittersRCV000154046 RCV000360503 RCV000309303 RCV000364029 RCV000305658 RCV000393864 RCV002345492 RCV004734723 RCV006555502

NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)

SNV
Germline

Chr2:178569080

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235063

rs_372543652

12 SubmittersRCV000154049 RCV000723926 RCV001080765 RCV001798492 RCV002336313

NM_001267550.2(TTN):c.72552C>T (p.Val24184=)

SNV
Germline

Chr2:178573580

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235077

rs_727504187

3 SubmittersRCV000154054 RCV003764944 RCV004992025

NM_001267550.2(TTN):c.67637-4A>G

SNV
Germline

Chr2:178579397

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235083

rs_376053678

4 SubmittersRCV000245132 RCV000723876 RCV001087495 RCV002321632

NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)

SNV
Germline

Chr2:178582333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235090

rs_727504190

5 SubmittersRCV000154060 RCV000723921 RCV001084773 RCV002354361

NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)

SNV
Germline

Chr2:178618651

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235111

rs_727504195

3 SubmittersRCV000154069 RCV000539478 RCV002415651

NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)

SNV
Germline

Chr2:178632271

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235120

rs_369434563

4 SubmittersRCV000154072 RCV001079098 RCV002399537

NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu)

SNV
Germline

Chr2:178652309

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA235132

rs_727504201

4 SubmittersRCV000723877 RCV004532741

NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)

SNV
Germline

Chr2:178718115

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA235147

rs_727504205

4 SubmittersRCV000154088 RCV000680135 RCV000812622

NM_001267550.2(TTN):c.19158A>G (p.Gln6386=)

SNV
Germline

Chr2:178728768

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235150

rs_727504206

2 SubmittersRCV000154090 RCV003764945

NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)

SNV
Germline

Chr2:178731420

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235153

rs_535281449

3 SubmittersRCV000154092 RCV001078810

NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)

SNV
Germline

Chr2:178776668

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235170

rs_142262519

3 SubmittersRCV000154098 RCV001089298 RCV003162626

NM_001267550.2(TTN):c.2784A>G (p.Glu928=)

SNV
Germline

Chr2:178783777

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235180

rs_727504211

2 SubmittersRCV000154102 RCV003764946

NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter)

SNV
Germline

Chr2:178574632

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA346766

rs_730880242

1 SubmittersRCV000157566

NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)

SNV
Germline

Chr2:178579702

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Centronuclear myopathy
Feingold syndrome type 1
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA346762

rs_574660186

17 SubmittersRCV000157564 RCV000255593 RCV000680139 RCV000684782 RCV002354385 RCV004764905 RCV004586577 RCV004813064 RCV006700708

NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)

SNV
Germline

Chr2:178620299

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309865

rs_730880239

4 SubmittersRCV000157555 RCV000184542 RCV000643915 RCV003137688

NM_001267550.2(TTN):c.41609-2A>C

SNV
Germline

Chr2:178635717

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346771

rs_730880244

3 SubmittersRCV000468208 RCV002492614 RCV005298452

NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)

SNV
Germline

Chr2:178684074

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309012

rs_199620003

7 SubmittersRCV000157559 RCV000184135 RCV000477233 RCV004544462

NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)

SNV
Germline

Chr2:178713285

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302499

rs_199557654

11 SubmittersRCV000157556 RCV000172379 RCV000222353 RCV000265600 RCV000322987 RCV000335757 RCV000377872 RCV000379882 RCV000476275

NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)

SNV
Germline

Chr2:178764560

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346745

rs_375533809

5 SubmittersRCV000157552 RCV000726498

NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)

SNV
Germline

Chr2:178785991

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346741

rs_370728359

3 SubmittersRCV000600197 RCV003488406

NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)

SNV
Germline

Chr2:178528396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA236074

rs_760107623

5 SubmittersRCV000171307 RCV000643000 RCV004734768 RCV006700718

NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)

SNV
Germline

Chr2:178540145

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302342

rs_750969198

6 SubmittersRCV000171308 RCV006649940

NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)

SNV
Germline

Chr2:178542441

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA236076

rs_767837705

3 SubmittersRCV000171309 RCV001852065 RCV002362874

NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr)

SNV
Germline

Chr2:178548813

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA236078

rs_786205536

1 SubmittersRCV000171310

NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)

SNV
Germline

Chr2:178552677

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA236082

rs_786205538

2 SubmittersRCV000171312 RCV003765071

NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr)

SNV
Germline

Chr2:178575313

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA236086

rs_786205539

3 SubmittersRCV000171315 RCV004734769

NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)

SNV
Germline

Chr2:178582086

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA236091

rs_571093313

6 SubmittersRCV000171317 RCV000288338 RCV000303449 RCV000340260 RCV000343261 RCV000406446 RCV000544634 RCV001293233 RCV003137700

NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu)

SNV
Germline

Chr2:178589395

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA236093

rs_786205541

1 SubmittersRCV000171318

NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)

SNV
Germline

Chr2:178608330

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA236095

rs_559590585

3 SubmittersRCV000171319 RCV002492709

NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val)

SNV
Germline

Chr2:178630253

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA236097

rs_786205542

1 SubmittersRCV000171320

NM_001267550.2(TTN):c.32470+3A>G

SNV
Germline

Chr2:178685250

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA236099

rs_786205543

2 SubmittersRCV000171321 RCV005213219

NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)

SNV
Germline

Chr2:178712153

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA236100

rs_369108107

3 SubmittersRCV000171322 RCV003155102

NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys)

SNV
Germline

Chr2:178721981

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA236102

rs_786205544

1 SubmittersRCV000171323

NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)

SNV
Germline

Chr2:178774305

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA236104

rs_374615369

7 SubmittersRCV000171324 RCV000473786 RCV001253714 RCV002362875 RCV002498857 RCV006452474

NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly)

SNV
Germline

Chr2:178775572

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA236108

rs_763722868

3 SubmittersRCV000171325 RCV005404310

NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)

SNV
Germline

Chr2:178528421

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237590

rs_142336788

9 SubmittersRCV000172143 RCV000516530 RCV000642924 RCV002415733 RCV004734771

NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)

SNV
Germline

Chr2:178528662

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237596

rs_199531140

12 SubmittersRCV000172145 RCV000220851 RCV001079372 RCV001134481 RCV001134482 RCV001134483 RCV001135937 RCV001135938 RCV002415734 RCV004539582

NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)

SNV
Germline

Chr2:178529076

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302594

rs_199632397

15 SubmittersRCV000172600 RCV000222652 RCV000246902 RCV000266936 RCV000266285 RCV000301237 RCV000321269 RCV000380571 RCV000469383 RCV000769843 RCV001563645 RCV004535177

NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)

SNV
Germline

Chr2:178530272

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302375

rs_369703073

5 SubmittersRCV000172148 RCV001132849 RCV001132847 RCV001136253 RCV001132848 RCV001132850 RCV001347072

NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys)

SNV
Germline

Chr2:178531125

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302379

rs_200123047

6 SubmittersRCV000172150 RCV000412707 RCV000459823 RCV001129589 RCV001129591 RCV001129590 RCV001129592 RCV001129593

NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)

SNV
Germline

Chr2:178531487

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA302383

rs_370137295

8 SubmittersRCV000172152 RCV000286045 RCV000534990 RCV000619680 RCV001353379

NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys)

SNV
Germline

Chr2:178532703

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302387

rs_374444254

6 SubmittersRCV000172157 RCV002399617

NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)

SNV
Germline

Chr2:178532979

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237620

rs_777626473

7 SubmittersRCV000172158 RCV000530822 RCV001358750

NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)

SNV
Germline

Chr2:178533203

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237623

rs_149391616

12 SubmittersRCV000172159 RCV000729500 RCV001084327 RCV001133963 RCV001133964 RCV001133965 RCV001133966 RCV001131016 RCV004535168

NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln)

SNV
Germline

Chr2:178533788

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237626

rs_199932621

4 SubmittersRCV000172160 RCV001338738 RCV005404315

NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)

SNV
Germline

Chr2:178534340

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237632

rs_757918924

12 SubmittersRCV000172163 RCV000642952 RCV002390414 RCV003479042

NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)

SNV
Germline

Chr2:178534907

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237635

rs_72629782

6 SubmittersRCV000172164 RCV001087093 RCV003319184 RCV004539583

NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)

SNV
Germline

Chr2:178535633

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237647

rs_201857158

9 SubmittersRCV000172168 RCV000244016 RCV000578003 RCV000600352 RCV000577929 RCV000578083 RCV001078580 RCV004535169

NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)

SNV
Germline

Chr2:178536521

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302391

rs_201112096

10 SubmittersRCV000172170 RCV000270805 RCV000311753 RCV000315180 RCV000403284 RCV000362844 RCV000517499 RCV001087486 RCV002381562

NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)

SNV
Germline

Chr2:178539042

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302399

rs_186405108

9 SubmittersRCV000172176 RCV000204075 RCV000619992 RCV001804904 RCV003150038

NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)

SNV
Germline

Chr2:178539424

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237665

rs_367979582

12 SubmittersRCV000172178 RCV000213432 RCV000284749 RCV000278672 RCV000339727 RCV000393696 RCV000343230 RCV000527211 RCV002362883 RCV004535170

NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)

SNV
Germline

Chr2:178539565

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA238450

rs_199761901

9 SubmittersRCV000172608 RCV001079964 RCV001798621 RCV002372079 RCV005404327

NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)

SNV
Germline

Chr2:178541539

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302598

rs_201080904

18 SubmittersRCV000172612 RCV000247259 RCV000220575 RCV000469734 RCV000769867 RCV001133580 RCV001133581 RCV001135067 RCV001135068 RCV001135069

NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)

SNV
Germline

Chr2:178542425

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
not specified
Lung cancer

Criteria Provided
Conflicting Classifications

CA302407

rs_184922462

10 SubmittersRCV000172182 RCV001087902 RCV001130177 RCV001130176 RCV001130178 RCV001135208 RCV001135209 RCV002362884 RCV003226236 RCV005889678

NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)

SNV
Germline

Chr2:178545916

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302411

rs_762265902

8 SubmittersRCV000172186 RCV000286462 RCV000365968 RCV000308968 RCV000389961 RCV000469609 RCV000399987 RCV002307433 RCV004535171

NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)

SNV
Germline

Chr2:178547610

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Congenital portosystemic shunt

Criteria Provided
Conflicting Classifications

CA237695

rs_184078016

7 SubmittersRCV000172192 RCV000435407 RCV000620023 RCV001083580 RCV001132113 RCV001132111 RCV001133035 RCV001132112 RCV001133036 RCV006634299

NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)

SNV
Germline

Chr2:178548621

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA302602

rs_180975448

19 SubmittersRCV000172619 RCV000213505 RCV000244689 RCV001080503 RCV001129597 RCV001129599 RCV001171247 RCV001129598 RCV001129600 RCV001132342

NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)

SNV
Germline

Chr2:178549713

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Amyloidosis, hereditary systemic 1
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237707

rs_369342933

11 SubmittersRCV000172201 RCV000272895 RCV000326514 RCV000286593 RCV000378832 RCV000383680 RCV000610659 RCV000852790 RCV001086287 RCV001798611 RCV002354433

NM_001267550.2(TTN):c.91570C>T (p.Pro30524Ser)

SNV
Germline

Chr2:178550268

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA237710

rs_199930508

2 SubmittersRCV000172203

NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)

SNV
Germline

Chr2:178553192

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ventricular fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA302419

rs_72648240

13 SubmittersRCV000172206 RCV000317539 RCV000852797 RCV001083916 RCV001130533 RCV001130535 RCV001130534 RCV001130536 RCV001130537 RCV002362885 RCV004539584 RCV005396510

NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)

SNV
Germline

Chr2:178553691

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA237722

rs_200503016

18 SubmittersRCV000172209 RCV000242895 RCV000499612 RCV000528669 RCV000765548 RCV001798612 RCV003335176

NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)

SNV
Germline

Chr2:178554614

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302606

rs_374147064

10 SubmittersRCV000172623 RCV001082027 RCV001293122 RCV002354443 RCV006649942

NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)

SNV
Germline

Chr2:178556869

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237731

rs_373738818

7 SubmittersRCV000172213 RCV000477224 RCV001129071 RCV001129068 RCV001129069 RCV001129070 RCV001129072 RCV002354436 RCV002271446

NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)

SNV
Germline

Chr2:178558524

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302422

rs_201687390

9 SubmittersRCV000172216 RCV000221192 RCV000274973 RCV000268777 RCV000308739 RCV000363372 RCV000333135 RCV001086505 RCV002354437 RCV004539585

NM_001267550.2(TTN):c.86654G>A (p.Arg28885His)

SNV
Germline

Chr2:178559478

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237743

rs_371539720

5 SubmittersRCV000172220 RCV000230659 RCV001129498 RCV001129497 RCV001136483 RCV001136481 RCV001136482 RCV002354438

NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)

SNV
Germline

Chr2:178560481

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA238468

rs_142478636

8 SubmittersRCV000172627 RCV000604152 RCV001083852 RCV001129601 RCV001129602 RCV001129603 RCV001129604 RCV001129605 RCV002354445 RCV004734774

NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val)

SNV
Germline

Chr2:178560508

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237746

rs_554841820

6 SubmittersRCV000172221 RCV000465020 RCV005404316

NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)

SNV
Germline

Chr2:178561261

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302426

rs_192152102

13 SubmittersRCV000172223 RCV000308136 RCV000271594 RCV000277611 RCV000346588 RCV000302023 RCV000362784 RCV001082315 RCV001170553 RCV002354439 RCV004539586

NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)

SNV
Germline

Chr2:178563069

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302430

rs_185002960

18 SubmittersRCV000172231 RCV000222897 RCV000277111 RCV000271952 RCV000312262 RCV000366922 RCV000366443 RCV001085618 RCV001170784 RCV002345589 RCV004539587

NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)

SNV
Germline

Chr2:178563444

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237761

rs_118079537

7 SubmittersRCV000172233 RCV000295809 RCV000332094 RCV000328290 RCV000387397 RCV000372796 RCV001086678 RCV002345590

NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)

SNV
Germline

Chr2:178563897

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302434

rs_201489661

10 SubmittersRCV000172237 RCV000259150 RCV000294267 RCV000351562 RCV000296920 RCV000335482 RCV000386155 RCV001085422 RCV002345592 RCV003150040

NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)

SNV
Germline

Chr2:178564240

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA238471

rs_200697681

15 SubmittersRCV000172630 RCV000768911 RCV001088746 RCV001128965 RCV001135949 RCV001128964 RCV001128966 RCV001135948 RCV002345597 RCV004734775 RCV005404328

NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)

SNV
Germline

Chr2:178565227

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302438

rs_377667066

8 SubmittersRCV000172244 RCV005404317

NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)

SNV
Germline

Chr2:178565577

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302441

rs_202149931

13 SubmittersRCV000172246 RCV000545122 RCV002345594 RCV002500449 RCV004725021

NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)

SNV
Germline

Chr2:178566270

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200073

rs_3731746

7 SubmittersRCV000172788 RCV000643377 RCV001133152 RCV001133153 RCV001133154 RCV001133155 RCV001133156 RCV001697169

NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)

SNV
Germline

Chr2:178568916

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302610

rs_56391938

12 SubmittersRCV000172634 RCV000213073 RCV001086328 RCV001171262 RCV002225090 RCV002345598

NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)

SNV
Germline

Chr2:178569145

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302614

rs_143186270

10 SubmittersRCV000172635 RCV000260684 RCV000249719 RCV001080773 RCV004734776

NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)

SNV
Germline

Chr2:178569393

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302618

rs_56372592

12 SubmittersRCV000172636 RCV000214788 RCV000467029 RCV001135365 RCV001135366 RCV001135367 RCV001135368 RCV001135369 RCV001798622 RCV002336416

NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)

SNV
Germline

Chr2:178571628

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238483

rs_201724962

3 SubmittersRCV000172639 RCV000457657 RCV003226237

NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)

SNV
Germline

Chr2:178573329

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237818

rs_140018785

6 SubmittersRCV000172260 RCV001083382 RCV001132951 RCV001132000 RCV001132001 RCV001132002 RCV001132003 RCV002336413 RCV002281995

NM_001267550.2(TTN):c.72180A>G (p.Thr24060=)

SNV
Germline

Chr2:178573952

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237827

rs_786205320

2 SubmittersRCV000172263 RCV003765081

NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)

SNV
Germline

Chr2:178573986

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Ventricular tachycardia
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA302449

rs_56399205

15 SubmittersRCV000172264 RCV000248880 RCV000259146 RCV000347355 RCV000282942 RCV000288822 RCV000379211 RCV000404979 RCV000852813 RCV000769955 RCV001084205 RCV002227932 RCV006555538

NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)

SNV
Germline

Chr2:178575096

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302622

rs_200144345

18 SubmittersRCV000172645 RCV000242642 RCV000222300 RCV000475296 RCV000768939 RCV001132541 RCV001129848 RCV001132543 RCV001132544 RCV001132542

NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)

SNV
Germline

Chr2:178575960

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237836

rs_375202101

7 SubmittersRCV000172267 RCV000217947 RCV000466252

NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)

SNV
Germline

Chr2:178576090

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237839

rs_775146212

4 SubmittersRCV000172268 RCV000615591 RCV001087343

NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)

SNV
Germline

Chr2:178576997

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA237845

rs_370890454

11 SubmittersRCV000172270 RCV000219897 RCV000247024 RCV000470047 RCV000769962 RCV005025271

NM_001267550.2(TTN):c.68824+1G>A

SNV
Germline

Chr2:178577601

Conflicting classifications of pathogenicity

Condition: not provided
Spinal rigidity
Thoracic kyphoscoliosis
Bilateral talipes equinovarus
Restrictive ventilatory defect
Areflexia of lower limbs
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237848

rs_112484439

3 SubmittersRCV000172271 RCV000414790 RCV005213220

NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)

SNV
Germline

Chr2:178578869

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302453

rs_374492812

7 SubmittersRCV000172273 RCV000252894 RCV000412699 RCV000460832 RCV001131377 RCV001131373 RCV001131374 RCV001131375 RCV001131376

NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)

SNV
Germline

Chr2:178579965

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237855

rs_201223583

5 SubmittersRCV000172277 RCV000464968 RCV002354440

NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln)

SNV
Germline

Chr2:178580007

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA237858

rs_770566210

3 SubmittersRCV000172278

NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)

SNV
Germline

Chr2:178581983

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237864

rs_187257105

6 SubmittersRCV000172280 RCV000768955 RCV001086075 RCV005237640

NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)

SNV
Germline

Chr2:178587334

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302457

rs_199505416

13 SubmittersRCV000172288 RCV000559196 RCV000769981 RCV001135230 RCV001135229 RCV001135226 RCV001135227 RCV001135228 RCV002453599 RCV004725022 RCV005404318

NM_001267550.2(TTN):c.63617T>C (p.Val21206Ala)

SNV
Germline

Chr2:178587692

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA237885

rs_370145029

2 SubmittersRCV000172290 RCV006649941

NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys)

SNV
Germline

Chr2:178589900

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA237897

rs_786205389

6 SubmittersRCV000172295 RCV002460052 RCV004820836

NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)

SNV
Germline

Chr2:178590793

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237900

rs_373062007

10 SubmittersRCV000172296 RCV000220034 RCV000283208 RCV000297539 RCV000400629 RCV000341926 RCV000401451 RCV000558110 RCV002453600 RCV004535172

NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)

SNV
Germline

Chr2:178593724

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238495

rs_377682563

14 SubmittersRCV000172656 RCV000272074 RCV000266149 RCV000360816 RCV000311922 RCV000321127 RCV000385028 RCV000471860 RCV002321686 RCV001798623

NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys)

SNV
Germline

Chr2:178594042

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA237909

rs_763871350

6 SubmittersRCV000172299 RCV005404319

NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)

SNV
Germline

Chr2:178595546

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA238498

rs_369440319

10 SubmittersRCV000172657 RCV000461841 RCV000592228 RCV000770004 RCV002444691 RCV004539591

NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)

SNV
Germline

Chr2:178597640

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302461

rs_188185141

22 SubmittersRCV000172302 RCV000213728 RCV000233875 RCV000764323 RCV001130775 RCV001130772 RCV001130773 RCV001130774 RCV001130776 RCV001798613 RCV002433752

NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)

SNV
Germline

Chr2:178597928

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
not specified

Criteria Provided
Conflicting Classifications

CA237918

rs_78509062

7 SubmittersRCV000172304 RCV000463568 RCV003448276 RCV005237641

NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)

SNV
Germline

Chr2:178599024

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302465

rs_370629962

10 SubmittersRCV000172305 RCV000242147 RCV000768983 RCV001087751 RCV001293199 RCV003235091

NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)

SNV
Germline

Chr2:178599646

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA237921

rs_200132226

12 SubmittersRCV000172306 RCV000246388 RCV000500554 RCV000643101 RCV000764325

NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)

SNV
Germline

Chr2:178601342

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237924

rs_201774108

8 SubmittersRCV000172307 RCV000232325 RCV002433753

NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)

SNV
Germline

Chr2:178601694

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237927

rs_772677752

8 SubmittersRCV000172308 RCV000219508 RCV000460774 RCV001135750 RCV001135752 RCV001135753 RCV001135754 RCV001135751 RCV002433754

NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)

SNV
Germline

Chr2:178601736

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302469

rs_372541479

9 SubmittersRCV000172309 RCV000461788 RCV000852840 RCV002433755 RCV003323425

NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)

SNV
Germline

Chr2:178603947

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302473

rs_200585270

10 SubmittersRCV000172311 RCV001087555 RCV002433756 RCV003150041 RCV005404320

NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)

SNV
Germline

Chr2:178603977

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302477

rs_201412693

14 SubmittersRCV000172312 RCV000242658 RCV000259186 RCV000277068 RCV000312071 RCV000313378 RCV000354316 RCV000366773 RCV000395819 RCV000768993 RCV001082395 RCV004535173

NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)

SNV
Germline

Chr2:178604106

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA237930

rs_201802447

6 SubmittersRCV000172313 RCV000533892 RCV000764328 RCV005404321

NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)

SNV
Germline

Chr2:178613916

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237945

rs_768914789

6 SubmittersRCV000172318 RCV000289489 RCV000290799 RCV000387541 RCV000381631 RCV000342229 RCV002415735 RCV002469044

NM_001267550.2(TTN):c.49207T>C (p.Ser16403Pro)

SNV
Germline

Chr2:178614190

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237948

rs_746009199

3 SubmittersRCV000172319 RCV002426823

NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)

SNV
Germline

Chr2:178615350

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA237954

rs_752629624

6 SubmittersRCV000172322 RCV001128753 RCV001128751 RCV001128752 RCV001128754 RCV001135757 RCV001798614 RCV005025272

NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)

SNV
Germline

Chr2:178616953

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237963

rs_184815126

9 SubmittersRCV000172325 RCV000229401 RCV002415736 RCV002509279

NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)

SNV
Germline

Chr2:178618369

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302485

rs_780334981

6 SubmittersRCV000172326 RCV000474594 RCV002415737

NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)

SNV
Germline

Chr2:178621577

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237966

rs_199834143

7 SubmittersRCV000172327 RCV000610466 RCV000770033 RCV002408749 RCV004535174

NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)

SNV
Germline

Chr2:178621944

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302630

rs_200931793

5 SubmittersRCV000172669 RCV000412693 RCV000468053

NM_001267550.2(TTN):c.44824G>A (p.Val14942Met)

SNV
Germline

Chr2:178622759

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237976

rs_786205391

2 SubmittersRCV000172331 RCV000617276

NM_001267550.2(TTN):c.43290A>C (p.Glu14430Asp)

SNV
Germline

Chr2:178632716

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA237986

rs_531051064

3 SubmittersRCV000172335 RCV001798615

NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)

SNV
Germline

Chr2:178633520

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237989

rs_181902304

4 SubmittersRCV000172336 RCV000527067 RCV002399618

NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)

SNV
Germline

Chr2:178636050

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302489

rs_201257644

20 SubmittersRCV000172340 RCV000219175 RCV000469863 RCV000626790 RCV001134388 RCV001134390 RCV001131408 RCV001134387 RCV001134389 RCV002390415 RCV003150042

NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)

SNV
Germline

Chr2:178652156

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238015

rs_777119867

9 SubmittersRCV000172348 RCV000210649 RCV000234190 RCV001132014 RCV001132016 RCV001132017 RCV001129320 RCV001132015

NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly)

SNV
Germline

Chr2:178652535

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238018

rs_368056479

4 SubmittersRCV000172349 RCV001085993 RCV001129419 RCV001129420 RCV001129421 RCV001132135 RCV001132136

NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)

SNV
Germline

Chr2:178664032

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Congenital myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA200105

rs_200513156

15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV005396515 RCV005625363 RCV004539593

NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg)

SNV
Germline

Chr2:178664486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238033

rs_183220684

2 SubmittersRCV000172356 RCV001080191

NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)

SNV
Germline

Chr2:178664926

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238035

rs_199868380

6 SubmittersRCV000172357 RCV000226876 RCV003479043

NM_001267550.2(TTN):c.34391A>G (p.Lys11464Arg)

SNV
Germline

Chr2:178675983

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA238042

rs_786205396

3 SubmittersRCV000172360 RCV000602756

NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)

SNV
Germline

Chr2:178677696

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238045

rs_532102837

12 SubmittersRCV000172361 RCV000248449 RCV000282781 RCV000337132 RCV000340184 RCV000394687 RCV000371985 RCV000603350 RCV000770054 RCV001084484

NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)

SNV
Germline

Chr2:178692043

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA238057

rs_376287951

11 SubmittersRCV000172366 RCV000222100 RCV000548036 RCV001132692 RCV001132693 RCV001132694 RCV001132695 RCV001132696 RCV004535175

NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr)

SNV
Germline

Chr2:178709638

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA238069

rs_373380202

3 SubmittersRCV000172370 RCV001130655 RCV001130656 RCV001130657 RCV001130658 RCV001133624

NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp)

SNV
Germline

Chr2:178709854

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA302495

rs_200489972

5 SubmittersRCV000172373 RCV000412691 RCV001130093 RCV001130801 RCV001130094 RCV001130095 RCV001130800

NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)

SNV
Germline

Chr2:178710835

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238072

rs_375209383

5 SubmittersRCV000172374 RCV000591182 RCV000642914

NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)

SNV
Germline

Chr2:178712832

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238084

rs_201229221

7 SubmittersRCV000172378 RCV000457855 RCV000596358

NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)

SNV
Germline

Chr2:178715537

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302503

rs_200355367

13 SubmittersRCV000172382 RCV000233708 RCV000278126 RCV000284139 RCV000339199 RCV000372724 RCV000378374 RCV000764342 RCV001798616 RCV003235092

NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)

SNV
Germline

Chr2:178717253

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238518

rs_201418615

10 SubmittersRCV000172687 RCV000215717 RCV001083467

NM_001267550.2(TTN):c.24571G>A (p.Glu8191Lys)

SNV
Germline

Chr2:178718535

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA238093

rs_201326258

3 SubmittersRCV000172385 RCV002281996

NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)

SNV
Germline

Chr2:178723881

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238108

rs_786205315

3 SubmittersRCV000172391 RCV000610152 RCV000642888

NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)

SNV
Germline

Chr2:178727370

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA238120

rs_146828735

5 SubmittersRCV000172397 RCV001132974 RCV001089301 RCV001132973 RCV001132975 RCV001132971 RCV001132972

NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)

SNV
Germline

Chr2:178728277

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302511

rs_199796249

12 SubmittersRCV000172398 RCV000306811 RCV000303063 RCV000401694 RCV000346409 RCV000342923 RCV000464696 RCV001170094 RCV004535176 RCV005404322

NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)

SNV
Germline

Chr2:178731464

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA238135

rs_576904726

10 SubmittersRCV000172403 RCV000535301 RCV001798617 RCV002225089 RCV005237642

NM_001267550.2(TTN):c.15544G>A (p.Gly5182Arg)

SNV
Germline

Chr2:178733845

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA238144

rs_775552018

2 SubmittersRCV000172409

NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)

SNV
Germline

Chr2:178734838

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238150

rs_200792058

6 SubmittersRCV000242481 RCV000172411 RCV001798618

NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)

SNV
Germline

Chr2:178735577

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
not specified

Criteria Provided
Conflicting Classifications

CA302515

rs_780405420

8 SubmittersRCV000172412 RCV000468843 RCV003448277 RCV003987420

NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu)

SNV
Germline

Chr2:178739532

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238155

rs_200422152

3 SubmittersRCV000172416 RCV000643203

NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)

SNV
Germline

Chr2:178740412

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238157

rs_200348414

7 SubmittersRCV000172417 RCV000217501 RCV000544990 RCV000620036 RCV003486720

NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser)

SNV
Germline

Chr2:178741237

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238163

rs_199844346

4 SubmittersRCV000172420 RCV000247167

NM_133379.5(TTN):c.15227C>T (p.Pro5076Leu)

SNV
Germline

Chr2:178747173

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA302522

rs_201137248

2 SubmittersRCV000172429

NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)

SNV
Germline

Chr2:178747874

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302525

rs_776361113

4 SubmittersRCV000172434 RCV000219979

NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)

SNV
Germline

Chr2:178748385

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA238187

rs_551658963

4 SubmittersRCV000172437 RCV001699141

NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)

SNV
Germline

Chr2:178748601

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA238193

rs_200760091

6 SubmittersRCV000172440 RCV000222083

NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala)

SNV
Germline

Chr2:178748988

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA238196

rs_145919543

7 SubmittersRCV000172441 RCV002500450 RCV004725023 RCV005404323

NM_133379.5(TTN):c.10646G>A (p.Arg3549His)

SNV
Germline

Chr2:178751754

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302637

rs_148115514

8 SubmittersRCV000172722 RCV000220127

NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)

SNV
Germline

Chr2:178756706

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA302528

rs_377401997

8 SubmittersRCV000172451 RCV000462612 RCV001563648 RCV002466253 RCV002500451 RCV006688538

NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)

SNV
Germline

Chr2:178764658

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302531

rs_200052398

8 SubmittersRCV000172452 RCV000475682 RCV000622253 RCV001171055

NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)

SNV
Germline

Chr2:178764808

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302537

rs_146199720

8 SubmittersRCV000172453 RCV000412686 RCV000526576 RCV002381564 RCV002485115

NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)

SNV
Germline

Chr2:178769793

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238228

rs_56373393

7 SubmittersRCV000172458 RCV000614292 RCV000769106 RCV001084753

NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)

SNV
Germline

Chr2:178774337

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238249

rs_147580120

4 SubmittersRCV000172464 RCV000642748 RCV002362887

NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser)

SNV
Germline

Chr2:178774941

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238254

rs_755999681

2 SubmittersRCV000172465 RCV001078603

NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)

SNV
Germline

Chr2:178775043

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Hypertrophic cardiomyopathy
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302549

rs_372979075

11 SubmittersRCV000172467 RCV000642957 RCV000618905 RCV000765589 RCV000852932 RCV003150043 RCV005404324

NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)

SNV
Germline

Chr2:178775127

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA238259

rs_202032875

12 SubmittersRCV000172468 RCV000279091 RCV000282750 RCV000375953 RCV000336583 RCV000379439 RCV000540799 RCV002362888 RCV005404325

NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)

SNV
Germline

Chr2:178776009

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238269

rs_572691153

4 SubmittersRCV000172470 RCV000471938 RCV006700723

NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr)

SNV
Germline

Chr2:178776385

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA238279

rs_141213991

3 SubmittersRCV000172473 RCV002478557

NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)

SNV
Germline

Chr2:178776600

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA238284

rs_201904897

10 SubmittersRCV000172475 RCV000259138 RCV000476288

NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)

SNV
Germline

Chr2:178779006

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302567

rs_370978752

6 SubmittersRCV000172479 RCV000260058 RCV000263663 RCV000321201 RCV000317593 RCV000378238 RCV000412681 RCV000553812 RCV003486721

NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser)

SNV
Germline

Chr2:178780113

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238299

rs_200749662

3 SubmittersRCV000172481 RCV000643074

NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)

SNV
Germline

Chr2:178782351

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302579

rs_55914517

7 SubmittersRCV000172483 RCV000412679 RCV000536793 RCV001129768 RCV001129769 RCV001129770 RCV001129771 RCV001129767 RCV003486722

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

SNV
Germline

Chr2:178782896

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238309

rs_200902055

6 SubmittersRCV000172484 RCV000477223 RCV000622026

NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp)

SNV
Germline

Chr2:178784341

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA238319

rs_200572298

4 SubmittersRCV000172486 RCV001129977 RCV001129978 RCV001129979 RCV001129980 RCV001129981 RCV002509280

NM_001267550.2(TTN):c.2358C>G (p.His786Gln)

SNV
Germline

Chr2:178785860

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238324

rs_199507913

7 SubmittersRCV000172487 RCV000557117 RCV001135137 RCV001135139 RCV001135141 RCV001135138 RCV001135140 RCV002426824

NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)

SNV
Germline

Chr2:178789414

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238334

rs_180694107

6 SubmittersRCV000172489 RCV000463378 RCV005404326

NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)

SNV
Germline

Chr2:178802167

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Brugada syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302585

rs_200165636

13 SubmittersRCV000172495 RCV000577960 RCV000578069 RCV000524658 RCV000578038 RCV001142583 RCV001142582 RCV001281537 RCV002433758 RCV004767117

NM_001267550.2(TTN):c.43G>A (p.Val15Ile)

SNV
Germline

Chr2:178804600

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238531

rs_201857541

9 SubmittersRCV000172733 RCV000218176 RCV000469634 RCV001140835 RCV001170882 RCV001140836 RCV001142683 RCV001142681 RCV001142682 RCV002326949

NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)

SNV
Germline

Chr2:178702065

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302714

rs_577066020

6 SubmittersRCV000458510 RCV000724662 RCV005406889

NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)

SNV
Germline

Chr2:178689852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302729

rs_139790668

11 SubmittersRCV000214411 RCV000724240 RCV000768887 RCV001085372 RCV004535198

NM_001267550.2(TTN):c.31846+1G>A

SNV
Germline

Chr2:178689812

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA239715

rs_794727043

5 SubmittersRCV000473656 RCV000493981 RCV002287378

NM_001267550.2(TTN):c.32471-1G>A

SNV
Germline

Chr2:178684990

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Dilated cardiomyopathy 1G
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA239986

rs_371725574

11 SubmittersRCV000174435 RCV000723286 RCV001060586 RCV002500468 RCV003989491 RCV004786489 RCV006704600

NM_001267550.2(TTN):c.32808G>T (p.Val10936=)

SNV
Germline

Chr2:178683290

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA240191

rs_794727109

2 SubmittersRCV000174633 RCV001466705

NM_001267550.2(TTN):c.33340+5A>C

SNV
Germline

Chr2:178681074

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA240203

rs_373367032

8 SubmittersRCV000174638 RCV000559362 RCV000724749 RCV002467644 RCV004539618

NM_001267550.2(TTN):c.33267A>G (p.Lys11089=)

SNV
Germline

Chr2:178681152

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA240204

rs_748320500

2 SubmittersRCV000174639 RCV003114324

NM_001267550.2(TTN):c.2137C>A (p.Arg713=)

SNV
Germline

Chr2:178786081

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA240385

rs_727505277

2 SubmittersRCV000174803 RCV003765086

NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)

SNV
Germline

Chr2:178662980

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240621

rs_755562550

6 SubmittersRCV000174971 RCV000281125 RCV000340850 RCV000360532 RCV000398847 RCV000394487 RCV000724464

NM_001267550.2(TTN):c.2589T>C (p.Thr863=)

SNV
Germline

Chr2:178784256

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240789

rs_794727178

4 SubmittersRCV000175104 RCV001082076 RCV005298455

NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)

SNV
Germline

Chr2:178782876

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241114

rs_374346637

5 SubmittersRCV000175379 RCV001417394 RCV001699219 RCV002433766

NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)

SNV
Germline

Chr2:178630881

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302785

rs_200445568

11 SubmittersRCV000219227 RCV000724241 RCV000618077 RCV000769015 RCV001079420 RCV004537383

NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)

SNV
Germline

Chr2:178624692

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA241258

rs_759406486

8 SubmittersRCV000175505 RCV002399634 RCV002505252 RCV006649945

NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)

SNV
Germline

Chr2:178619866

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302790

rs_72677229

13 SubmittersRCV000231768 RCV000259187 RCV000724743 RCV001798628 RCV002408763 RCV004734782

NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)

SNV
Germline

Chr2:178617838

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302828

rs_199640194

13 SubmittersRCV000213221 RCV000459255 RCV000724914 RCV001332831 RCV002415758 RCV003486728

NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)

SNV
Germline

Chr2:178615483

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA242012

rs_202141158

7 SubmittersRCV000617431 RCV000724694 RCV001128756 RCV001083383 RCV001128757 RCV001128758 RCV001128755 RCV001131393

NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)

SNV
Germline

Chr2:178614225

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302836

rs_200944827

10 SubmittersRCV000222990 RCV000643008 RCV000724717 RCV001134128 RCV001134130 RCV001134131 RCV001134132 RCV001134129 RCV002426845 RCV004734785

NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)

SNV
Germline

Chr2:178612448

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242127

rs_377141765

7 SubmittersRCV000456148 RCV000724235 RCV002444706 RCV005417992

NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)

SNV
Germline

Chr2:178610295

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242247

rs_779518431

4 SubmittersRCV000176341 RCV000534107 RCV003165367 RCV005404331

NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)

SNV
Germline

Chr2:178610253

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201914

rs_532589236

9 SubmittersRCV000176342 RCV001129942 RCV001130637 RCV001129943 RCV001130636 RCV001130638 RCV001443544 RCV004734787 RCV004020092 RCV006731820

NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)

SNV
Germline

Chr2:178609288

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242250

rs_370390570

9 SubmittersRCV000176344 RCV000724526 RCV001086903 RCV001798629 RCV002426846

NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)

SNV
Germline

Chr2:178609306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302842

rs_367603302

7 SubmittersRCV000213905 RCV000725162 RCV001086306 RCV002426847

NM_001267550.2(TTN):c.52374T>C (p.Val17458=)

SNV
Germline

Chr2:178608637

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242253

rs_752571545

4 SubmittersRCV000724746 RCV002054076 RCV002426848

NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)

SNV
Germline

Chr2:178608227

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242259

rs_371031259

6 SubmittersRCV000176348 RCV001089153 RCV001288570 RCV002426849 RCV004539636

NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)

SNV
Germline

Chr2:178607907

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA242262

rs_536494011

6 SubmittersRCV000539172 RCV000724793 RCV002478576 RCV006649947

NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)

SNV
Germline

Chr2:178605705

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA242268

rs_375309278

5 SubmittersRCV000176351 RCV000457092 RCV000852842 RCV004700538

NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)

SNV
Germline

Chr2:178605123

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242271

rs_761146363

4 SubmittersRCV000176352 RCV001427412 RCV002426850

NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter)

SNV
Germline

Chr2:178605182

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA275117

rs_794727387

1 SubmittersRCV000176441

NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)

SNV
Germline

Chr2:178604768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242381

rs_368021072

9 SubmittersRCV000221057 RCV000724540 RCV001131648 RCV001132666 RCV001088302 RCV001131647 RCV001132665 RCV001132667 RCV002426851

NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)

SNV
Germline

Chr2:178599258

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA207890

rs_529480368

9 SubmittersRCV000194014 RCV000619752 RCV000724413 RCV001078673 RCV001130337 RCV001130338 RCV001130336 RCV001130335 RCV001131032 RCV003150048

NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)

SNV
Germline

Chr2:178779094

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA242477

rs_771294359

8 SubmittersRCV000176503 RCV001198541 RCV004732744 RCV006701216

NM_001267550.2(TTN):c.56850G>A (p.Val18950=)

SNV
Germline

Chr2:178598860

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA242485

rs_368068200

4 SubmittersRCV000176508 RCV000251225 RCV000724307 RCV001082517

NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)

SNV
Germline

Chr2:178594030

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA302859

rs_191927501

17 SubmittersRCV000176513 RCV000218113 RCV000245462 RCV000537285 RCV001132557 RCV001132559 RCV001132560 RCV001132558 RCV001133469 RCV003486729 RCV004537403 RCV005396534

NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)

SNV
Germline

Chr2:178592803

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242494

rs_377180286

11 SubmittersRCV000618923 RCV000724238 RCV000769995 RCV001085373 RCV004539639 RCV005431521

NM_001267550.2(TTN):c.4362A>G (p.Leu1454=)

SNV
Germline

Chr2:178777822

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242580

rs_794727406

3 SubmittersRCV000176593 RCV001450209 RCV004992050

NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)

SNV
Germline

Chr2:178591383

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242602

rs_529529087

6 SubmittersRCV000176602 RCV001088829 RCV001699054 RCV002453627

NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)

SNV
Germline

Chr2:178590359

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242605

rs_756873840

7 SubmittersRCV000213435 RCV000231416 RCV000724199 RCV001798630 RCV002453628

NM_001267550.2(TTN):c.62280T>C (p.Val20760=)

SNV
Germline

Chr2:178589445

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242608

rs_372065796

14 SubmittersRCV000176605 RCV000284206 RCV000251065 RCV000333758 RCV000289353 RCV000344432 RCV000388445 RCV000724705 RCV001079619 RCV004734789

NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)

SNV
Germline

Chr2:178588134

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA242614

rs_374168580

13 SubmittersRCV000176608 RCV000724772 RCV001130333 RCV001085918 RCV001130332 RCV001130334 RCV001131024 RCV001131025 RCV001170818

NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)

SNV
Germline

Chr2:178586563

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302863

rs_371514555

12 SubmittersRCV000213072 RCV000622146 RCV000724605 RCV000769976 RCV001081517

NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)

SNV
Germline

Chr2:178582182

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA242742

rs_768057735

7 SubmittersRCV000555829 RCV000724792 RCV002500489 RCV005628235

NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)

SNV
Germline

Chr2:178581618

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302871

rs_764330098

7 SubmittersRCV000705326 RCV000724201 RCV002372089 RCV004537411 RCV006649948

NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)

SNV
Germline

Chr2:178581667

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242748

rs_368924655

7 SubmittersRCV000176710 RCV000642872 RCV002250588 RCV002354451

NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)

SNV
Germline

Chr2:178576952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Clear cell carcinoma of kidney
Sarcoma
Lung cancer
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA202117

rs_72646882

13 SubmittersRCV000176782 RCV000460701 RCV000620952 RCV001082646 RCV001133987 RCV001133986 RCV001133988 RCV001133989 RCV001133990 RCV001170572 RCV005889890 RCV005889891 RCV005889892 RCV005889893

NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)

SNV
Germline

Chr2:178575697

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242813

rs_760509116

4 SubmittersRCV000467630 RCV000724093 RCV002326967

NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)

SNV
Germline

Chr2:178562616

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Hypertrophic cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302878

rs_376820301

11 SubmittersRCV000242513 RCV000259353 RCV000299241 RCV000259119 RCV000274523 RCV000317203 RCV000356458 RCV000366970 RCV000487528 RCV001081800 RCV001798632 RCV004528940

NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)

SNV
Germline

Chr2:178573366

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302882

rs_187868672

9 SubmittersRCV000265766 RCV000300684 RCV000337171 RCV000361406 RCV000397204 RCV000725272 RCV001081316 RCV002227452 RCV002326968 RCV005237652

NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)

SNV
Germline

Chr2:178564660

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302886

rs_200771189

16 SubmittersRCV000259190 RCV000539580 RCV000769926 RCV000724797 RCV002345607

NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)

SNV
Germline

Chr2:178562817

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302890

rs_578191491

14 SubmittersRCV000220460 RCV000302870 RCV000357762 RCV000356701 RCV000406858 RCV000402442 RCV000468138 RCV000769924 RCV001796725 RCV002345608 RCV004537413

NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)

SNV
Germline

Chr2:178565278

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242835

rs_371362606

9 SubmittersRCV000176798 RCV000287638 RCV000327344 RCV000342639 RCV000284771 RCV000401115 RCV000464328 RCV001778772 RCV002345609 RCV004734790

NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)

SNV
Germline

Chr2:178560080

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302902

rs_76928874

11 SubmittersRCV000176810 RCV000296778 RCV000345872 RCV000385138 RCV000290898 RCV000381555 RCV000528103 RCV001311951 RCV002354452

NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)

SNV
Germline

Chr2:178565605

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA242850

rs_142004835

7 SubmittersRCV000176811 RCV000724412 RCV001088000 RCV002345610 RCV003150051

NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)

SNV
Germline

Chr2:178568883

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA242859

rs_368038362

7 SubmittersRCV000176815 RCV000617448 RCV000768920 RCV001130187 RCV001130188 RCV001130888 RCV001130889 RCV001130890

NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter)

SNV
Germline

Chr2:178566970

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275146

rs_763822931

2 SubmittersRCV000176816

NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)

SNV
Germline

Chr2:178576035

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302906

rs_372782502

10 SubmittersRCV000259188 RCV000724759 RCV001087084 RCV002326970

NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)

SNV
Germline

Chr2:178568426

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242862

rs_375764395

4 SubmittersRCV000176818 RCV000724774 RCV001457688 RCV002345611

NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)

SNV
Germline

Chr2:178572218

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242877

rs_376382707

4 SubmittersRCV000176824 RCV001079057 RCV002336429 RCV004539641

NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)

SNV
Germline

Chr2:178560108

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA242880

rs_766419568

5 SubmittersRCV000176826 RCV002281999 RCV003984828

NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)

SNV
Germline

Chr2:178565009

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242886

rs_181299250

4 SubmittersRCV000176828 RCV001080624 RCV002345612

NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)

SNV
Germline

Chr2:178572259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242889

rs_545556079

4 SubmittersRCV000176831 RCV000724522 RCV001483891 RCV002336431

NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val)

SNV
Germline

Chr2:178557048

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA242898

rs_55898359

2 SubmittersRCV000176837 RCV001089335

NM_001267550.2(TTN):c.88248T>C (p.Val29416=)

SNV
Germline

Chr2:178556906

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA242901

rs_794727458

2 SubmittersRCV000176838 RCV001467250

NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)

SNV
Germline

Chr2:178776883

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242985

rs_749438439

6 SubmittersRCV000176894 RCV000534726 RCV002336432 RCV005404332

NM_001267550.2(TTN):c.88594+1G>T

SNV
Germline

Chr2:178554864

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA275153

rs_794727467

3 SubmittersRCV000176899 RCV000690273

NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)

SNV
Germline

Chr2:178554662

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302913

rs_72648235

12 SubmittersRCV000219348 RCV000542576 RCV000724710 RCV001293052 RCV002354453 RCV005396536

NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr)

SNV
Germline

Chr2:178552916

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA243015

rs_754676727

5 SubmittersRCV000176904 RCV000245527 RCV000724870

NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)

SNV
Germline

Chr2:178551097

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243018

rs_373900294

7 SubmittersRCV000176905 RCV000228254 RCV002362901 RCV004782286

NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)

SNV
Germline

Chr2:178546351

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243073

rs_370769662

5 SubmittersRCV000176956 RCV001078900 RCV002362903 RCV004998377

NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)

SNV
Germline

Chr2:178543909

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302919

rs_200540781

14 SubmittersRCV000219446 RCV000273519 RCV000316543 RCV000334102 RCV000375971 RCV000464293 RCV000388603 RCV000617391 RCV000725268 RCV003150052 RCV003319185 RCV004734792

NM_001267550.2(TTN):c.186C>T (p.Arg62=)

SNV
Germline

Chr2:178802247

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243575

rs_528853682

4 SubmittersRCV000177399 RCV001079082 RCV001170881 RCV002408768

NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)

SNV
Germline

Chr2:178539154

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243666

rs_750855113

5 SubmittersRCV000177484 RCV001079949 RCV006713269

NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)

SNV
Germline

Chr2:178539016

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243669

rs_776133124

3 SubmittersRCV000177485 RCV002054092 RCV002372092

NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)

SNV
Germline

Chr2:178539219

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tip-toe gait
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302940

rs_182683829

10 SubmittersRCV000725273 RCV001086077 RCV001134620 RCV001134622 RCV001134621 RCV001134623 RCV001134624 RCV002227933 RCV002362905 RCV004537431 RCV004782287

NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)

SNV
Germline

Chr2:178537488

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA275197

rs_794727539

3 SubmittersRCV000407629 RCV001049392 RCV003362713

NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)

SNV
Germline

Chr2:178536942

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243678

rs_778478048

4 SubmittersRCV000177491 RCV001456774 RCV002381575 RCV005434678

NM_001267550.2(TTN):c.100467T>C (p.Ser33489=)

SNV
Germline

Chr2:178536280

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA243681

rs_794727540

2 SubmittersRCV000177493 RCV001479492

NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)

SNV
Germline

Chr2:178533804

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302944

rs_794727542

7 SubmittersRCV000259176 RCV000852774 RCV000724604 RCV000818971 RCV002390431 RCV005025283

NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)

SNV
Germline

Chr2:178534590

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243693

rs_794727543

4 SubmittersRCV000177502 RCV001488339 RCV002390432

NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)

SNV
Germline

Chr2:178531955

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA243696

rs_774131659

5 SubmittersRCV000177504 RCV000553844 RCV000764294 RCV005404333

NM_001267550.2(TTN):c.107377+1G>A

SNV
Germline

Chr2:178528273

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Neuromuscular disease
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA243849

rs_112188483

16 SubmittersRCV000209587 RCV000413060 RCV000797446 RCV002485159 RCV004017452 RCV003380504 RCV006741237 RCV006704604

NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)

SNV
Germline

Chr2:178528397

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA243850

rs_528535076

5 SubmittersRCV000177586

NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)

SNV
Germline

Chr2:178527535

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA302948

rs_374859388

6 SubmittersRCV000213075 RCV000547954 RCV000724101

NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)

SNV
Germline

Chr2:178773587

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA244182

rs_148920986

4 SubmittersRCV000177666 RCV000770122 RCV004577945

NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)

SNV
Germline

Chr2:178773533

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302955

rs_146970027

17 SubmittersRCV000177667 RCV000221018 RCV000620787 RCV001080643 RCV000770121 RCV001131079 RCV001134033 RCV001131080 RCV001131081 RCV001131082 RCV003227694

NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)

SNV
Germline

Chr2:178771314

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA244751

rs_369439944

3 SubmittersRCV000177817 RCV001432061 RCV002408770

NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)

SNV
Germline

Chr2:178735858

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive titinopathy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA303005

rs_375680312

5 SubmittersRCV000725307 RCV006555554 RCV006634907

NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)

SNV
Germline

Chr2:178735960

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive titinopathy
not specified

Criteria Provided
Conflicting Classifications

CA303009

rs_375177753

10 SubmittersRCV000228945 RCV000769088 RCV000725231 RCV001129331 RCV001129327 RCV001129328 RCV001129329 RCV001129330 RCV006555555 RCV006701219

NM_001267550.2(TTN):c.15775+9A>G

SNV
Germline

Chr2:178733605

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA246307

rs_746563654

3 SubmittersRCV000179078 RCV001082794

NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)

SNV
Germline

Chr2:178732866

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA246343

rs_794727755

9 SubmittersRCV000179113 RCV000643531 RCV002492786 RCV004734797 RCV005404335

NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)

SNV
Germline

Chr2:178732546

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA246369

rs_201625116

8 SubmittersRCV000723866 RCV001134154 RCV001086282 RCV001135651 RCV001134153 RCV001134155 RCV001135650 RCV004539678 RCV005404336

NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)

SNV
Germline

Chr2:178732510

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA246372

rs_376037792

11 SubmittersRCV000215148 RCV000724636 RCV000770098 RCV001085533 RCV001131185 RCV001130462 RCV001130463 RCV001131183 RCV001131184 RCV004537479

NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)

SNV
Germline

Chr2:178732253

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA246404

rs_367821526

7 SubmittersRCV000713977 RCV001085832 RCV001134032 RCV001135527 RCV001135528 RCV001135529 RCV001135530 RCV006456790

NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)

SNV
Germline

Chr2:178727834

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA246957

rs_794727829

3 SubmittersRCV000179656 RCV000542148 RCV001170093

NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)

SNV
Germline

Chr2:178727369

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA246977

rs_571231816

9 SubmittersRCV000179667 RCV000643486 RCV002503693 RCV004734798 RCV005404337

NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)

SNV
Germline

Chr2:178795117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA247370

rs_375448572

19 SubmittersRCV000217164 RCV000724795 RCV001087195 RCV001134295 RCV001134297 RCV001134298 RCV001134294 RCV001134296 RCV001798633 RCV002399641 RCV004539689

NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)

SNV
Germline

Chr2:178719371

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA247870

rs_794727941

4 SubmittersRCV000180408 RCV001228758 RCV006704605

NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter)

SNV
Germline

Chr2:178717254

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA247894

rs_794727945

3 SubmittersRCV000180426 RCV000642705

NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)

SNV
Germline

Chr2:178715244

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247912

rs_188234466

6 SubmittersRCV000222950 RCV000286098 RCV000280133 RCV000329768 RCV000335156 RCV000392294 RCV000724263

NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)

SNV
Germline

Chr2:178793493

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA248252

rs_34337578

8 SubmittersRCV000180698 RCV000300935 RCV000340586 RCV000353413 RCV000406894 RCV000401699 RCV000550205 RCV002390446 RCV005404339

NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu)

SNV
Germline

Chr2:178711194

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA248328

rs_794727987

3 SubmittersRCV000180751 RCV000725054 RCV004734804

NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg)

SNV
Germline

Chr2:178711109

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA248334

rs_749875409

3 SubmittersRCV000180753

NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)

SNV
Germline

Chr2:178709772

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA203815

rs_374156904

14 SubmittersRCV000180762 RCV000232509 RCV000250709 RCV000769900 RCV001133625 RCV001135122 RCV001133626 RCV001135121 RCV001135123 RCV001721131 RCV004537519

NM_001267550.2(TTN):c.28983G>A (p.Val9661=)

SNV
Germline

Chr2:178707584

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA248347

rs_794727991

2 SubmittersRCV000180766 RCV002054160

NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)

SNV
Germline

Chr2:178706655

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA248361

rs_753121692

4 SubmittersRCV000180774 RCV001170635

NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)

SNV
Germline

Chr2:178527491

Pathogenic/Likely pathogenic

Limb-girdle muscle weakness
Limb-girdle muscle atrophy
Muscular dystrophy
Proximal lower limb amyotrophy
Decreased patellar reflex
Waddling gait
Limb-girdle muscular dystrophy
Myopathy
Rimmed vacuoles
Lower limb muscle weakness
Lower limb muscle weakness
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related myopathy
Early-onset myopathy with fatal cardiomyopathy
Neuromuscular disease
TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309520

rs_757082154

15 SubmittersRCV000415078 RCV000414825 RCV000414850 RCV000714746 RCV000735131 RCV001383196 RCV001808462 RCV002516949 RCV003228796 RCV004017470 RCV004528965 RCV005621907 RCV004771466 RCV004992074 RCV006452497

NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)

SNV
Germline

Chr2:178527609

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311295

rs_776981475

5 SubmittersRCV000534043 RCV000734760 RCV002408824

NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)

SNV
Germline

Chr2:178528312

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311289

rs_770904787

4 SubmittersRCV000185144 RCV000643585 RCV002492847 RCV003486760

NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)

SNV
Germline

Chr2:178528551

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311283

rs_374992991

3 SubmittersRCV000726867 RCV001852410

NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)

SNV
Germline

Chr2:178528646

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Hypertrophic cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311280

rs_772957495

8 SubmittersRCV000544128 RCV000727225 RCV000764291 RCV000852484 RCV002469051 RCV002415797

NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)

SNV
Germline

Chr2:178528824

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311266

rs_754459138

5 SubmittersRCV000618422 RCV000727495 RCV001300616 RCV003458164

NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)

SNV
Germline

Chr2:178530482

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311252

rs_555476312

3 SubmittersRCV000534220 RCV001721176

NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)

SNV
Germline

Chr2:178530675

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311244

rs_377171054

6 SubmittersRCV000642996 RCV000713957 RCV003486759

NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln)

SNV
Germline

Chr2:178530860

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311238

rs_368151146

5 SubmittersRCV000185126 RCV000271197 RCV000274755 RCV000328540 RCV000331942 RCV000363562 RCV000728009

NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)

SNV
Germline

Chr2:178531103

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311235

rs_774524898

6 SubmittersRCV000261339 RCV000379527 RCV000319264 RCV000322851 RCV000376209 RCV000643648 RCV001704941 RCV002408823

NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)

SNV
Germline

Chr2:178531124

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311232

rs_768358201

3 SubmittersRCV000459954 RCV000997317

NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)

SNV
Germline

Chr2:178531133

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311229

rs_372263729

4 SubmittersRCV000185121 RCV000525111 RCV002408822 RCV003150076

NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)

SNV
Germline

Chr2:178531224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311220

rs_779464128

3 SubmittersRCV000218623 RCV000997320 RCV001352152

NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)

SNV
Germline

Chr2:178531566

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311205

rs_368779151

5 SubmittersRCV000185112 RCV002516954

NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)

SNV
Germline

Chr2:178531637

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction 2
not specified

Criteria Provided
Conflicting Classifications

CA311202

rs_368945564

6 SubmittersRCV000727168 RCV001366707 RCV001331658 RCV005406912

NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly)

SNV
Germline

Chr2:178531662

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311199

rs_765030518

2 SubmittersRCV000643178 RCV001704940

NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)

SNV
Germline

Chr2:178531819

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311196

rs_794729566

3 SubmittersRCV001704939 RCV001852407

NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)

SNV
Germline

Chr2:178532010

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311193

rs_563430855

6 SubmittersRCV000185108 RCV000643758 RCV000726883 RCV002399693

NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)

SNV
Germline

Chr2:178532096

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA311184

rs_199710082

9 SubmittersRCV000458275 RCV000727494 RCV001170287 RCV002399691 RCV006688584

NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)

SNV
Germline

Chr2:178532201

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311178

rs_115150240

9 SubmittersRCV000467913 RCV000595276 RCV000726382 RCV002399690

NM_001267550.2(TTN):c.104179A>G (p.Arg34727Gly)

SNV
Germline

Chr2:178532436

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA311172

rs_555555534

2 SubmittersRCV001704937

NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln)

SNV
Germline

Chr2:178532522

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311166

rs_757940030

2 SubmittersRCV000185098 RCV002516953

NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)

SNV
Germline

Chr2:178532706

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311160

rs_200716930

5 SubmittersRCV000223175 RCV000466888 RCV000727452

NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)

SNV
Germline

Chr2:178532936

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311157

rs_544590023

4 SubmittersRCV000185094 RCV000459723 RCV003486758 RCV003488440

NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)

SNV
Germline

Chr2:178533039

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309135

rs_770742837

9 SubmittersRCV000184181 RCV000553885 RCV000622095 RCV000725161

NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)

SNV
Germline

Chr2:178533185

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311151

rs_751914956

7 SubmittersRCV000185092 RCV000462205 RCV000727152 RCV001130307 RCV001130309 RCV001130308 RCV001131014 RCV001131015 RCV002390483

NM_001267550.2(TTN):c.102696C>T (p.Val34232=)

SNV
Germline

Chr2:178533919

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308978

rs_202180775

9 SubmittersRCV000184117 RCV000249663 RCV000725665 RCV001089410 RCV004537539

NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)

SNV
Germline

Chr2:178533958

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311139

rs_370077023

8 SubmittersRCV000544778 RCV000725232 RCV001844076 RCV002390482

NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)

SNV
Germline

Chr2:178534091

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311136

rs_201954720

7 SubmittersRCV000185086 RCV000530236 RCV001704936 RCV002390481 RCV004734823

NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)

SNV
Germline

Chr2:178535109

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311127

rs_766439271

8 SubmittersRCV000213403 RCV000535734 RCV000725169 RCV002381618

NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)

SNV
Germline

Chr2:178535239

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308975

rs_367732133

17 SubmittersRCV000184116 RCV000231588 RCV000331702 RCV000332750 RCV000367647 RCV000382589 RCV000262541 RCV000620355 RCV000769859 RCV001726030 RCV004539715

NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)

SNV
Germline

Chr2:178535388

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309376

rs_794729305

6 SubmittersRCV000184287 RCV000621263 RCV000706242 RCV002500557 RCV005222810 RCV006688578

NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)

SNV
Germline

Chr2:178535402

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311124

rs_192391568

5 SubmittersRCV000470343 RCV001721175 RCV002381617 RCV003317136 RCV003486757

NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr)

SNV
Germline

Chr2:178536213

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA311112

rs_778965506

3 SubmittersRCV000733450

NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)

SNV
Germline

Chr2:178536300

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311106

rs_368321767

18 SubmittersRCV000305798 RCV000283303 RCV000353303 RCV000340707 RCV000392156 RCV000537271 RCV000617715 RCV000713947 RCV000764297 RCV001270047 RCV002282014 RCV003486756

NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)

SNV
Germline

Chr2:178536315

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311103

rs_372304158

14 SubmittersRCV000331220 RCV000299494 RCV000390641 RCV000369666 RCV000356693 RCV000524719 RCV000621440 RCV000713946 RCV000764298 RCV001270048 RCV002282013 RCV003486755

NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)

SNV
Germline

Chr2:178537163

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311091

rs_374295768

7 SubmittersRCV000727859 RCV001085795 RCV002381616 RCV004525889 RCV004539727

NM_001267550.2(TTN):c.98989+1G>A

SNV
Germline

Chr2:178538945

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309375

rs_112240298

4 SubmittersRCV000184286 RCV000217239 RCV001225100 RCV002372129

NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)

SNV
Germline

Chr2:178538975

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311070

rs_746380940

5 SubmittersRCV000185057 RCV000292971 RCV000296474 RCV000338679 RCV000351408 RCV000387180 RCV000477773 RCV000766991

NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro)

SNV
Germline

Chr2:178538976

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311067

rs_758494581

4 SubmittersRCV000185056 RCV000298988 RCV000335265 RCV000303989 RCV000358712 RCV000392376 RCV001704935

NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)

SNV
Germline

Chr2:178539460

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA311058

rs_186244950

8 SubmittersRCV000468025 RCV000727860 RCV001132340 RCV001133261 RCV001133262 RCV001132339 RCV001132341 RCV002362970 RCV006688583

NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala)

SNV
Germline

Chr2:178539474

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
6 conditions
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311055

rs_201257063

6 SubmittersRCV000185051 RCV000619113 RCV001798656 RCV002485255 RCV003389709 RCV005256575

NM_001267550.2(TTN):c.97973G>A (p.Arg32658Gln)

SNV
Germline

Chr2:178540193

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311043

rs_769581585

2 SubmittersRCV001704933 RCV002362968

NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)

SNV
Germline

Chr2:178541465

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309132

rs_761050391

5 SubmittersRCV000184180 RCV000642927 RCV000997342 RCV001170527

NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)

SNV
Germline

Chr2:178542314

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311022

rs_201364164

6 SubmittersRCV000528741 RCV000734030 RCV003150075 RCV005237676

NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)

SNV
Germline

Chr2:178542320

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309129

rs_369845358

4 SubmittersRCV000184179 RCV000247768 RCV001721151

NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)

SNV
Germline

Chr2:178542321

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311019

rs_200148139

4 SubmittersRCV000267740 RCV000275218 RCV000281918 RCV000318676 RCV000375642 RCV000377474 RCV000642928 RCV001704932

NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)

SNV
Germline

Chr2:178542509

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311016

rs_377412567

6 SubmittersRCV000469120 RCV001721174 RCV001844075 RCV002372136 RCV004537562

NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)

SNV
Germline

Chr2:178543276

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309517

rs_781171206

3 SubmittersRCV000184397 RCV002362952 RCV001852398

NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)

SNV
Germline

Chr2:178543336

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311010

rs_764561909

7 SubmittersRCV000458037 RCV000730978 RCV000764304 RCV002362967

NM_001267550.2(TTN):c.96310+2T>G

SNV
Germline

Chr2:178543832

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309373

rs_794729303

3 SubmittersRCV000184283 RCV002372128 RCV005222809

NM_001267550.2(TTN):c.96225T>A (p.Val32075=)

SNV
Germline

Chr2:178543919

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309514

rs_752745266

5 SubmittersRCV000726252 RCV001088651 RCV002362951

NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)

SNV
Germline

Chr2:178544213

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA310995

rs_191786700

15 SubmittersRCV000327957 RCV000643238 RCV001086209 RCV002362966 RCV005625395

NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)

SNV
Germline

Chr2:178544356

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310989

rs_763270971

6 SubmittersRCV000227090 RCV000298510 RCV000351155 RCV000315003 RCV000400495 RCV000398498 RCV000765537 RCV001721172

NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile)

SNV
Germline

Chr2:178546654

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310959

rs_370918800

3 SubmittersRCV000234555 RCV001136259 RCV001132852 RCV001132853 RCV001136260 RCV001136261 RCV001721171

NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val)

SNV
Germline

Chr2:178546801

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310956

rs_771491701

4 SubmittersRCV000185007 RCV000618243 RCV003137745

NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)

SNV
Germline

Chr2:178546875

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310953

rs_377016580

11 SubmittersRCV000217908 RCV000468035 RCV000728623 RCV001132941 RCV001132938 RCV001132939 RCV001131992 RCV001132940 RCV004537560

NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)

SNV
Germline

Chr2:178547243

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA310944

rs_190282707

9 SubmittersRCV000695149 RCV000727765 RCV000765540 RCV001196687 RCV005365108 RCV005404364

NM_001267550.2(TTN):c.94162A>T (p.Arg31388Ter)

SNV
Germline

Chr2:178547464

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309370

rs_794729302

1 SubmittersRCV000184282

NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala)

SNV
Germline

Chr2:178547469

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA310938

rs_772833696

3 SubmittersRCV000185001 RCV000643541

NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)

SNV
Germline

Chr2:178547551

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310935

rs_780436747

4 SubmittersRCV001136384 RCV001136386 RCV001136387 RCV001136383 RCV001136385 RCV001704930 RCV002362963

NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)

SNV
Germline

Chr2:178548102

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310920

rs_72648251

14 SubmittersRCV000305405 RCV000302003 RCV000360124 RCV000356493 RCV000399391 RCV000725160 RCV001086637 RCV002362961 RCV004725033

NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)

SNV
Germline

Chr2:178548496

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310914

rs_750213547

7 SubmittersRCV000216521 RCV002372134 RCV003137744 RCV004734822

NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)

SNV
Germline

Chr2:178549036

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310905

rs_200621611

6 SubmittersRCV000268053 RCV000280857 RCV000360353 RCV000377684 RCV000319148 RCV000643867 RCV001704928 RCV002362960 RCV002271448

NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)

SNV
Germline

Chr2:178549224

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310902

rs_372570504

5 SubmittersRCV000725074 RCV002362959

NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)

SNV
Germline

Chr2:178549309

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309367

rs_794729301

8 SubmittersRCV000184281 RCV000619760 RCV001212639 RCV002469050

NM_001267550.2(TTN):c.91808A>G (p.Asn30603Ser)

SNV
Germline

Chr2:178550030

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310896

rs_794729533

3 SubmittersRCV000184980 RCV003137742

NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)

SNV
Germline

Chr2:178551132

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310881

rs_775591945

8 SubmittersRCV000461669 RCV000714115 RCV001170306 RCV002362958 RCV005404363

NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)

SNV
Germline

Chr2:178551179

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310872

rs_751610164

8 SubmittersRCV000284310 RCV000274131 RCV000288065 RCV000339329 RCV000347762 RCV000394225 RCV000457893 RCV000725303 RCV002362957

NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)

SNV
Germline

Chr2:178551701

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310866

rs_376494747

4 SubmittersRCV000459434 RCV001721169 RCV002362956

NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)

SNV
Germline

Chr2:178551909

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310855

rs_75022916

9 SubmittersRCV000184964 RCV000618251 RCV000697121 RCV000728236 RCV004528966

NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)

SNV
Germline

Chr2:178551932

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310852

rs_11887722

5 SubmittersRCV000184963 RCV000559240 RCV001721168

NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)

SNV
Germline

Chr2:178551987

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310849

rs_544353741

5 SubmittersRCV000184962 RCV000951969 RCV001170307 RCV001293132 RCV003137740

NM_001267550.2(TTN):c.90870C>T (p.Val30290=)

SNV
Germline

Chr2:178552030

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310846

rs_794729527

3 SubmittersRCV000184961 RCV002054187 RCV003165417

NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)

SNV
Germline

Chr2:178552719

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310828

rs_138958733

4 SubmittersRCV001288140 RCV002362955

NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)

SNV
Germline

Chr2:178553725

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309511

rs_794729385

2 SubmittersRCV000184395 RCV001852397

NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)

SNV
Germline

Chr2:178554510

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309364

rs_794729300

5 SubmittersRCV000184280 RCV001049626 RCV002354499 RCV002466463

NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)

SNV
Germline

Chr2:178554627

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310790

rs_200513274

12 SubmittersRCV000223660 RCV000301842 RCV000307858 RCV000404508 RCV000396053 RCV000359092 RCV000526235 RCV000509283 RCV000727677 RCV002354516 RCV004537558

NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe)

SNV
Germline

Chr2:178554868

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA310784

rs_371483198

4 SubmittersRCV000184936

NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)

SNV
Germline

Chr2:178554963

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310778

rs_72648234

8 SubmittersRCV000184934 RCV000643904 RCV000725754 RCV002354514

NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)

SNV
Germline

Chr2:178557511

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309361

rs_794729299

3 SubmittersRCV000184279 RCV001379937 RCV002354498

NM_001267550.2(TTN):c.87632G>A (p.Arg29211His)

SNV
Germline

Chr2:178557722

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309120

rs_370948914

2 SubmittersRCV000184176 RCV000470417

NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)

SNV
Germline

Chr2:178557743

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310756

rs_72648228

9 SubmittersRCV000184921 RCV000246125 RCV000727722 RCV001086279 RCV004539725

NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)

SNV
Germline

Chr2:178558074

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310747

rs_199501185

8 SubmittersRCV000299316 RCV000259204 RCV000305120 RCV000359745 RCV000406021 RCV000540529 RCV000727727 RCV002354512

NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)

SNV
Germline

Chr2:178559492

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309358

rs_794729298

3 SubmittersRCV000184277 RCV001379237 RCV005502763

NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)

SNV
Germline

Chr2:178559658

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA309355

rs_794729297

3 SubmittersRCV000184276 RCV000814982 RCV004545757

NM_001267550.2(TTN):c.86420G>A (p.Arg28807His)

SNV
Germline

Chr2:178559712

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310731

rs_375800916

6 SubmittersRCV000470222 RCV001132230 RCV001132232 RCV001129504 RCV001132229 RCV001132231 RCV001704926 RCV002354509 RCV005437980

NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)

SNV
Germline

Chr2:178560016

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309504

rs_794729384

6 SubmittersRCV000184392 RCV000697694 RCV001594384 RCV002354500 RCV006688579

NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)

SNV
Germline

Chr2:178560130

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310728

rs_72648225

6 SubmittersRCV000525045 RCV001134630 RCV001134632 RCV001134633 RCV001134629 RCV001134631 RCV001704925 RCV002354508 RCV003330547

NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)

SNV
Germline

Chr2:178560682

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310722

rs_56330345

5 SubmittersRCV000643365 RCV001704924 RCV002354507 RCV005418000

NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)

SNV
Germline

Chr2:178561017

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310719

rs_190721759

9 SubmittersRCV000184906 RCV000461663 RCV002298512 RCV002354506 RCV002500561

NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)

SNV
Germline

Chr2:178561041

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310716

rs_376283153

5 SubmittersRCV000529144 RCV001704923 RCV005404361

NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu)

SNV
Germline

Chr2:178561060

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310713

rs_368069666

2 SubmittersRCV000184904 RCV003137738

NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)

SNV
Germline

Chr2:178561168

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310710

rs_774978209

3 SubmittersRCV000233244 RCV001704922

NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)

SNV
Germline

Chr2:178561235

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309352

rs_794729296

3 SubmittersRCV000184275 RCV003765149

NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)

SNV
Germline

Chr2:178561747

Conflicting classifications of pathogenicity

6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310701

rs_752974639

6 SubmittersRCV000764309 RCV001129924 RCV001129926 RCV001129923 RCV001129925 RCV001134957 RCV001170780 RCV001704921

NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)

SNV
Germline

Chr2:178562479

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309349

rs_794729295

2 SubmittersRCV000184274 RCV003765148

NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser)

SNV
Germline

Chr2:178562880

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA310692

rs_775527437

3 SubmittersRCV000184893 RCV000462497

NM_001267550.2(TTN):c.82933C>T (p.Arg27645Cys)

SNV
Germline

Chr2:178563199

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA309114

rs_751318609

2 SubmittersRCV000184173

NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)

SNV
Germline

Chr2:178563378

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310674

rs_72648215

8 SubmittersRCV000222951 RCV000234626 RCV000725384 RCV002227935 RCV004537556

NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)

SNV
Germline

Chr2:178563493

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA309345

rs_779874042

4 SubmittersRCV000184272 RCV000702305 RCV002345649 RCV002500556

NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)

SNV
Germline

Chr2:178563550

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310671

rs_749852593

6 SubmittersRCV000184886 RCV000459776 RCV000734347 RCV002345659 RCV002485250

NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)

SNV
Germline

Chr2:178563747

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310665

rs_55933739

6 SubmittersRCV000253906 RCV000725252 RCV003150074

NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)

SNV
Germline

Chr2:178563892

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Third degree atrioventricular block
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309342

rs_766840243

7 SubmittersRCV000184271 RCV001241231 RCV002305453 RCV002345648 RCV006452495

NM_001267550.2(TTN):c.81964A>T (p.Arg27322Ter)

SNV
Germline

Chr2:178564168

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309339

rs_794729293

1 SubmittersRCV000184270

NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)

SNV
Germline

Chr2:178564374

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310659

rs_529055709

5 SubmittersRCV000223209 RCV000463691 RCV001535416 RCV002345658

NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)

SNV
Germline

Chr2:178564795

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309336

rs_794729292

2 SubmittersRCV000184269 RCV003765147

NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)

SNV
Germline

Chr2:178564830

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Left ventricular hypertrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310647

rs_201490050

10 SubmittersRCV000184873 RCV000619230 RCV000678759 RCV001086421 RCV001706158 RCV004537555

NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)

SNV
Germline

Chr2:178565282

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309333

rs_794729291

4 SubmittersRCV000184268 RCV000699369 RCV003165415

NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)

SNV
Germline

Chr2:178565412

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA310635

rs_375693686

4 SubmittersRCV000734896

NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile)

SNV
Germline

Chr2:178566223

Conflicting classifications of pathogenicity

not specified
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310620

rs_375605062

3 SubmittersRCV000184863 RCV002492843 RCV003486754

NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)

SNV
Germline

Chr2:178566276

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310617

rs_530507211

5 SubmittersRCV000184862 RCV000270696 RCV000283370 RCV000323369 RCV000322095 RCV000380163 RCV001085916 RCV002345656

NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys)

SNV
Germline

Chr2:178566277

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA310614

rs_757229467

2 SubmittersRCV001704920

NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)

SNV
Germline

Chr2:178567435

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309327

rs_267599036

2 SubmittersRCV000184266 RCV003765146

NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)

SNV
Germline

Chr2:178567686

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310599

rs_191263181

5 SubmittersRCV000184854 RCV000529796 RCV001721162 RCV002345655

NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)

SNV
Germline

Chr2:178567954

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309324

rs_794729289

7 SubmittersRCV000184265 RCV000703198 RCV002336475 RCV002503725 RCV006699231

NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile)

SNV
Germline

Chr2:178568133

Conflicting classifications of pathogenicity

6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310581

rs_794729506

4 SubmittersRCV002492842 RCV005400779 RCV005404360

NM_001267550.2(TTN):c.77764C>T (p.Gln25922Ter)

SNV
Germline

Chr2:178568368

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309321

rs_794729288

2 SubmittersRCV000184264 RCV004796078

NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)

SNV
Germline

Chr2:178568478

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309108

rs_199514898

7 SubmittersRCV000643839 RCV000727067 RCV001130754 RCV001130755 RCV001130756 RCV001133726 RCV001133727 RCV002336471 RCV004800322

NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)

SNV
Germline

Chr2:178568695

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309318

rs_794729287

3 SubmittersRCV000184263 RCV001852387 RCV002336474

NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val)

SNV
Germline

Chr2:178568944

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310560

rs_745981754

2 SubmittersRCV000472984 RCV001721161

NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)

SNV
Germline

Chr2:178569089

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA308968

rs_370810609

5 SubmittersRCV000184113 RCV000617482 RCV000727528 RCV001089107

NM_001267550.2(TTN):c.76631G>A (p.Trp25544Ter)

SNV
Germline

Chr2:178569501

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309501

rs_794729383

1 SubmittersRCV000184391

NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)

SNV
Germline

Chr2:178570113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310523

rs_200287703

8 SubmittersRCV000598033 RCV000725582 RCV001087946 RCV002327009 RCV003150072 RCV004539722

NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)

SNV
Germline

Chr2:178570218

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310520

rs_142453163

12 SubmittersRCV000725672 RCV001798655 RCV002327008 RCV003323435

NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)

SNV
Germline

Chr2:178570450

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310517

rs_377226540

6 SubmittersRCV000714093 RCV001083823 RCV002336489

NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)

SNV
Germline

Chr2:178570771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310511

rs_199508062

7 SubmittersRCV000217890 RCV000727705 RCV001088038 RCV002336488

NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)

SNV
Germline

Chr2:178570804

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309498

rs_794729382

7 SubmittersRCV000184390 RCV000532259 RCV002336479 RCV002485237 RCV004786510

NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)

SNV
Germline

Chr2:178570882

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309315

rs_794729286

5 SubmittersRCV000184262 RCV001377801 RCV002336473 RCV004764910

NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)

SNV
Germline

Chr2:178571568

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310496

rs_759432194

4 SubmittersRCV000184814 RCV001129080 RCV001129081 RCV001136048 RCV001136046 RCV001136047 RCV002336487 RCV003137736

NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)

SNV
Germline

Chr2:178571619

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309094

rs_200723435

7 SubmittersRCV000184166 RCV000643768 RCV000726819 RCV002336469

NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)

SNV
Germline

Chr2:178571794

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309312

rs_794729285

8 SubmittersRCV000184261 RCV000208904 RCV001381840 RCV002336472 RCV002503724 RCV004764909 RCV005252793

NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)

SNV
Germline

Chr2:178571827

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1S
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310493

rs_372787601

7 SubmittersRCV000216196 RCV000225993 RCV000491424 RCV001704919 RCV002336486

NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)

SNV
Germline

Chr2:178571988

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310487

rs_55713856

7 SubmittersRCV000184811 RCV000469626 RCV000734356 RCV001131758 RCV001131759 RCV001131760 RCV001131761 RCV001132750 RCV002336485

NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)

SNV
Germline

Chr2:178572286

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309309

rs_794729284

6 SubmittersRCV000184260 RCV000689621 RCV002327001 RCV002485234 RCV004017469 RCV004764908

NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)

SNV
Germline

Chr2:178572706

Conflicting classifications of pathogenicity

not specified
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310475

rs_760487688

3 SubmittersRCV000184807 RCV002492840 RCV002336484

NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)

SNV
Germline

Chr2:178572798

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310472

rs_377334665

8 SubmittersRCV000184806 RCV000228035 RCV000731480 RCV000769949

NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)

SNV
Germline

Chr2:178572829

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
See cases
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310469

rs_200028088

11 SubmittersRCV000184805 RCV000643177 RCV001197045 RCV001704918 RCV002336483

NM_001267550.2(TTN):c.73185T>A (p.Tyr24395Ter)

SNV
Germline

Chr2:178572947

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309306

rs_794729283

2 SubmittersRCV000184259 RCV004017468

NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)

SNV
Germline

Chr2:178573306

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310463

rs_373204984

5 SubmittersRCV000472425 RCV001704917 RCV002336482

NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)

SNV
Germline

Chr2:178573308

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA310460

rs_199860952

11 SubmittersRCV000231472 RCV000622032 RCV000735005 RCV004537553 RCV004700558

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

SNV
Germline

Chr2:178574131

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309088

rs_180828370

8 SubmittersRCV000184164 RCV000727333 RCV001088146 RCV002326998

NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val)

SNV
Germline

Chr2:178574151

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310436

rs_772886864

5 SubmittersRCV000217716 RCV001706157 RCV002327006

NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)

SNV
Germline

Chr2:178574343

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310433

rs_752648041

10 SubmittersRCV000184788 RCV000463338 RCV000727489 RCV001798654 RCV002327005 RCV004734820

NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)

SNV
Germline

Chr2:178574569

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309495

rs_794729381

2 SubmittersRCV000184389 RCV002516948

NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)

SNV
Germline

Chr2:178575562

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310409

rs_369526268

6 SubmittersRCV000643517 RCV000764321 RCV001721160

NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu)

SNV
Germline

Chr2:178575850

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310397

rs_794729486

4 SubmittersRCV000184772 RCV000554673 RCV006445539

NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)

SNV
Germline

Chr2:178575969

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310394

rs_55853138

6 SubmittersRCV000456852 RCV000726869 RCV006688582

NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)

SNV
Germline

Chr2:178575970

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309303

rs_781540455

7 SubmittersRCV000184256 RCV000554185 RCV001000060 RCV002327000 RCV004764907 RCV006456803

NM_001267550.2(TTN):c.69716-1G>T

SNV
Germline

Chr2:178576417

Pathogenic

Condition: not provided
Colon adenocarcinoma

Criteria Provided
Single Submitter

CA309302

rs_794729282

2 SubmittersRCV000184255 RCV005892114

NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)

SNV
Germline

Chr2:178577085

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309299

rs_794729281

6 SubmittersRCV000184254 RCV002516945 RCV004764906 RCV004796077 RCV005502762

NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg)

SNV
Germline

Chr2:178577698

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309082

rs_794729245

2 SubmittersRCV000184161 RCV000643673

NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)

SNV
Germline

Chr2:178579324

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310367

rs_185620750

8 SubmittersRCV000184752 RCV000220102 RCV000469752 RCV000620954 RCV004537552

NM_001267550.2(TTN):c.67636G>A (p.Val22546Met)

SNV
Germline

Chr2:178579561

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309079

rs_794729244

2 SubmittersRCV000184160 RCV001852382

NM_001267550.2(TTN):c.67282G>T (p.Val22428Leu)

SNV
Germline

Chr2:178580005

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA310352

rs_794729483

4 SubmittersRCV000184746 RCV003150071 RCV004689660

NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp)

SNV
Germline

Chr2:178580169

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309076

rs_774568339

2 SubmittersRCV000184159 RCV000538779

NM_001267550.2(TTN):c.67058-1G>C

SNV
Germline

Chr2:178580230

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309494

rs_756715989

2 SubmittersRCV000184388 RCV004020246

NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)

SNV
Germline

Chr2:178583009

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310322

rs_373636513

8 SubmittersRCV000643672 RCV001311238 RCV001798653

NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)

SNV
Germline

Chr2:178583667

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310313

rs_56378177

8 SubmittersRCV000262020 RCV000298416 RCV000341773 RCV000356447 RCV000406787 RCV000557186 RCV001721159 RCV002354501 RCV004586607

NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val)

SNV
Germline

Chr2:178584369

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA310310

rs_781121273

4 SubmittersRCV000184727 RCV001129618 RCV001129619 RCV001129620 RCV001129621 RCV001129617 RCV005632293 RCV005025298

NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)

SNV
Germline

Chr2:178584407

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310307

rs_368450785

5 SubmittersRCV000184726 RCV000262099 RCV000260739 RCV000302097 RCV000319553 RCV000358672 RCV000462751 RCV003137729

NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)

SNV
Germline

Chr2:178584458

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310301

rs_371581072

6 SubmittersRCV000205027 RCV001134728 RCV001134730 RCV001134732 RCV001134729 RCV001134731 RCV001721158 RCV002345654 RCV004537549

NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)

SNV
Germline

Chr2:178584504

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310298

rs_528707403

5 SubmittersRCV000619601 RCV000733604

NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)

SNV
Germline

Chr2:178584552

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA309296

rs_794729280

6 SubmittersRCV000184250 RCV001203632 RCV002345647 RCV003128233 RCV002485233

NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)

SNV
Germline

Chr2:178584743

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA310295

rs_141965360

7 SubmittersRCV000619156 RCV000714068 RCV001328439 RCV001788062

NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln)

SNV
Germline

Chr2:178585290

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310278

rs_746903647

4 SubmittersRCV000184716 RCV000619422 RCV002492838 RCV003486752

NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn)

SNV
Germline

Chr2:178586706

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310264

rs_749018114

3 SubmittersRCV000267919 RCV000326464 RCV000320752 RCV000377730 RCV000360194 RCV001711472 RCV003150070

NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)

SNV
Germline

Chr2:178587516

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
6 conditions
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA310261

rs_794729474

9 SubmittersRCV000184710 RCV000460249 RCV001329653 RCV002453683 RCV002485246 RCV003486751 RCV006249603 RCV006456806

NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro)

SNV
Germline

Chr2:178587566

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA309073

rs_745323281

4 SubmittersRCV000184158

NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)

SNV
Germline

Chr2:178587683

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA309070

rs_148684589

6 SubmittersRCV000243001 RCV000714067 RCV001130200 RCV001130199 RCV001130201 RCV001130197 RCV001130198 RCV001328447

NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)

SNV
Germline

Chr2:178587684

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309293

rs_794729279

5 SubmittersRCV000184249 RCV000686313 RCV004020243

NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro)

SNV
Germline

Chr2:178587728

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310255

rs_367838375

5 SubmittersRCV000618511 RCV001704913 RCV003486750

NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)

SNV
Germline

Chr2:178587732

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310252

rs_376800688

12 SubmittersRCV000221791 RCV000462190 RCV000725480 RCV001170813 RCV002453682 RCV005396559

NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)

SNV
Germline

Chr2:178588616

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA310227

rs_191549948

7 SubmittersRCV000643775 RCV000997432 RCV001133993 RCV001131031 RCV001133991 RCV001133992 RCV001133994 RCV002336480 RCV003150069 RCV005404359

NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)

SNV
Germline

Chr2:178588700

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309491

rs_368452607

5 SubmittersRCV000184387 RCV000209637 RCV001044504 RCV001798648 RCV004020245

NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)

SNV
Germline

Chr2:178588730

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310218

rs_568886353

6 SubmittersRCV000307778 RCV000276032 RCV000322078 RCV000376658 RCV000362515 RCV001293203 RCV001704912 RCV002460055 RCV005237675

NM_001267550.2(TTN):c.62891C>A (p.Pro20964His)

SNV
Germline

Chr2:178588834

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309067

rs_548460016

2 SubmittersRCV000184156 RCV001171287

NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)

SNV
Germline

Chr2:178589002

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310212

rs_377203669

6 SubmittersRCV000867267 RCV001081873 RCV002453681 RCV006456805

NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)

SNV
Germline

Chr2:178589218

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310209

rs_201693851

7 SubmittersRCV000559556 RCV000726175 RCV001798652 RCV002453680

NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)

SNV
Germline

Chr2:178589293

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310206

rs_72646849

9 SubmittersRCV000184692 RCV000251314 RCV000727721 RCV001079582 RCV004539720

NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)

SNV
Germline

Chr2:178589300

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310203

rs_532844402

8 SubmittersRCV000184691 RCV000229909 RCV001135742 RCV001171288 RCV001134248 RCV001134249 RCV001134250 RCV001135743 RCV002453679

NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)

SNV
Germline

Chr2:178589408

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309064

rs_375173874

7 SubmittersRCV000184155 RCV000531028 RCV000727330 RCV002453671

NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)

SNV
Germline

Chr2:178590137

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310191

rs_755700079

3 SubmittersRCV002453677 RCV001704911 RCV003330546

NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)

SNV
Germline

Chr2:178590170

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309290

rs_794729278

9 SubmittersRCV001052127 RCV001798646 RCV002223811 RCV002453672 RCV002503723 RCV003227468

NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)

SNV
Germline

Chr2:178590241

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310188

rs_775137607

7 SubmittersRCV000184684 RCV000268605 RCV000322465 RCV000272273 RCV000316760 RCV000373464 RCV000550550 RCV001288576 RCV003150068

NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)

SNV
Germline

Chr2:178591673

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310164

rs_200455644

11 SubmittersRCV000215982 RCV000555451 RCV001704910 RCV002453676 RCV005396558

NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)

SNV
Germline

Chr2:178591698

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309287

rs_794729277

2 SubmittersRCV000184245 RCV001852386

NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)

SNV
Germline

Chr2:178592247

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310149

rs_755949982

5 SubmittersRCV000534467 RCV000727715 RCV003226240

NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)

SNV
Germline

Chr2:178592652

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309280

rs_794729276

3 SubmittersRCV000184242 RCV002321740 RCV006555580

NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)

SNV
Germline

Chr2:178592837

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310146

rs_563969986

7 SubmittersRCV000184664 RCV000460043 RCV000619810 RCV001132247 RCV001132249 RCV001132248 RCV001132250 RCV001132251 RCV001532422

NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)

SNV
Germline

Chr2:178592883

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310143

rs_372802352

6 SubmittersRCV000617353 RCV000734897

NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)

SNV
Germline

Chr2:178593351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309052

rs_368026488

4 SubmittersRCV000643651 RCV001721148 RCV002321739

NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys)

SNV
Germline

Chr2:178593687

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310134

rs_370686112

5 SubmittersRCV000725075 RCV002321743

NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)

SNV
Germline

Chr2:178593996

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310125

rs_201922910

12 SubmittersRCV000184654 RCV000274852 RCV000330015 RCV000335906 RCV000387758 RCV000375191 RCV000765567 RCV002321742 RCV003317135

NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)

SNV
Germline

Chr2:178594123

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309284

rs_72646837

3 SubmittersRCV000184244 RCV001852385 RCV005502761

NM_001267550.2(TTN):c.57847+1G>C

SNV
Germline

Chr2:178595506

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309283

rs_397517631

1 SubmittersRCV000184243

NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)

SNV
Germline

Chr2:178595585

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309277

rs_794729275

7 SubmittersRCV000184241 RCV000248842 RCV001378032

NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)

SNV
Germline

Chr2:178595698

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
6 conditions
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310113

rs_201541213

11 SubmittersRCV000228391 RCV000313228 RCV000356258 RCV000352827 RCV000398470 RCV000396308 RCV000714055 RCV000764322 RCV001170369 RCV002444755 RCV003235108

NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)

SNV
Germline

Chr2:178595708

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310110

rs_374058726

12 SubmittersRCV000210582 RCV000725154 RCV001133602 RCV001170370 RCV001079720 RCV001133604 RCV001133605 RCV001135094 RCV001133603 RCV002444754 RCV003226239 RCV004537548

NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)

SNV
Germline

Chr2:178601095

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA308953

rs_750472100

6 SubmittersRCV000184108 RCV000622249 RCV000725580 RCV001079093

NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)

SNV
Germline

Chr2:178601673

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310095

rs_72646822

6 SubmittersRCV000222884 RCV000727052 RCV001086041 RCV002433829

NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)

SNV
Germline

Chr2:178601711

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310092

rs_372778818

6 SubmittersRCV000184638 RCV000643161 RCV002433828 RCV003137722

NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)

SNV
Germline

Chr2:178602323

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310086

rs_192788942

8 SubmittersRCV000184634 RCV000727777 RCV001087244 RCV002433827 RCV004734818

NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)

SNV
Germline

Chr2:178603891

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310076

rs_199837769

9 SubmittersRCV000228857 RCV000287146 RCV000286006 RCV000307291 RCV000342179 RCV000347210 RCV000395829 RCV000725529 RCV000768991 RCV001262868 RCV002433826

NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)

SNV
Germline

Chr2:178604127

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309273

rs_794729274

2 SubmittersRCV000184238 RCV000813378

NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)

SNV
Germline

Chr2:178605011

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309476

rs_768431507

5 SubmittersRCV000184378 RCV000531903 RCV002426894 RCV003485551

NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)

SNV
Germline

Chr2:178605515

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310052

rs_369678018

8 SubmittersRCV000184619 RCV000466917 RCV000726699 RCV002453675

NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)

SNV
Germline

Chr2:178607247

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA309270

rs_794729273

3 SubmittersRCV000184236 RCV002433824 RCV004528964

NM_001267550.2(TTN):c.53287+6G>A

SNV
Germline

Chr2:178607395

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA308951

rs_149890360

4 SubmittersRCV000184106 RCV000230798

NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)

SNV
Germline

Chr2:178607529

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310046

rs_201358641

13 SubmittersRCV000184616 RCV000555766 RCV000764330 RCV001132012 RCV001132953 RCV001132954 RCV001132011 RCV001132013 RCV002453674 RCV005404358

NM_001267550.2(TTN):c.52999C>T (p.Gln17667Ter)

SNV
Germline

Chr2:178607788

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309267

rs_794729272

3 SubmittersRCV000184235 RCV005404355

NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)

SNV
Germline

Chr2:178607839

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310040

rs_535008556

6 SubmittersRCV000299807 RCV000264644 RCV000268363 RCV000303761 RCV000360879 RCV000867223 RCV001532425

NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)

SNV
Germline

Chr2:178608181

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310028

rs_377571654

11 SubmittersRCV000361668 RCV000308035 RCV000339816 RCV000394317 RCV000394227 RCV000474495 RCV001262302 RCV001532426 RCV001798650 RCV002426896 RCV003114341

NM_001267550.2(TTN):c.52693C>G (p.His17565Asp)

SNV
Germline

Chr2:178608190

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310025

rs_370126872

5 SubmittersRCV000184608 RCV000272854 RCV000330284 RCV000315949 RCV000365027 RCV000369576 RCV002433825 RCV003884380

NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)

SNV
Germline

Chr2:178608410

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309261

rs_794729271

2 SubmittersRCV000184233 RCV002516944

NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)

SNV
Germline

Chr2:178608474

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308945

rs_372618781

9 SubmittersRCV000184104 RCV000643555 RCV001311250 RCV001798643 RCV004734810

NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)

SNV
Germline

Chr2:178608680

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309043

rs_376080116

7 SubmittersRCV000733412 RCV001087326 RCV002282010 RCV002426892 RCV004528962

NM_001267550.2(TTN):c.51821C>A (p.Ser17274Ter)

SNV
Germline

Chr2:178609489

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309258

rs_794729270

2 SubmittersRCV000184232 RCV006555579

NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)

SNV
Germline

Chr2:178609528

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310013

rs_201825412

8 SubmittersRCV000220238 RCV000243770 RCV000306260 RCV000405647 RCV000346465 RCV000349767 RCV000394740 RCV000460845 RCV001704907

NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)

SNV
Germline

Chr2:178609719

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA310007

rs_573695008

5 SubmittersRCV000184601 RCV000852846 RCV001085392 RCV003987430

NM_001267550.2(TTN):c.51436+1G>A

SNV
Germline

Chr2:178610089

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1S
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA309257

rs_761807131

7 SubmittersRCV000184231 RCV000491861 RCV000538838 RCV003165413 RCV003237342 RCV005621906

NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)

SNV
Germline

Chr2:178610279

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310001

rs_746817480

5 SubmittersRCV000526855 RCV000764331 RCV001704906 RCV004526631

NM_001267550.2(TTN):c.51134T>C (p.Ile17045Thr)

SNV
Germline

Chr2:178610995

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA309992

rs_111933113

2 SubmittersRCV001704904

NM_001267550.2(TTN):c.51127A>T (p.Lys17043Ter)

SNV
Germline

Chr2:178611002

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309254

rs_794729269

2 SubmittersRCV000184230 RCV003165412

NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)

SNV
Germline

Chr2:178611269

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309251

rs_794729268

3 SubmittersRCV000184229 RCV000805800 RCV004678627

NM_001267550.2(TTN):c.50821G>T (p.Glu16941Ter)

SNV
Germline

Chr2:178611408

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309248

rs_794729267

1 SubmittersRCV000184228

NM_001267550.2(TTN):c.50797G>A (p.Ala16933Thr)

SNV
Germline

Chr2:178611432

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA309983

rs_794729452

4 SubmittersRCV003137716 RCV003150067 RCV000184592

NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)

SNV
Germline

Chr2:178611455

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309980

rs_370067597

8 SubmittersRCV000220451 RCV000465576 RCV001133609 RCV001133606 RCV001133607 RCV001133608 RCV001133610 RCV001704903 RCV005361091

NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)

SNV
Germline

Chr2:178611510

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cervical cancer

Criteria Provided
Conflicting Classifications

CA309977

rs_750610895

13 SubmittersRCV000184590 RCV000327937 RCV000458919 RCV001133611 RCV001133612 RCV001133613 RCV001135102 RCV001135103 RCV002444752 RCV005892117

NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)

SNV
Germline

Chr2:178611560

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309974

rs_752204728

5 SubmittersRCV000225833 RCV001130075 RCV001130077 RCV001130074 RCV001130076 RCV001135104 RCV001704902 RCV002444751

NM_001267550.2(TTN):c.50552-2A>G

SNV
Germline

Chr2:178611679

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309247

rs_794729266

1 SubmittersRCV000184227

NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)

SNV
Germline

Chr2:178611909

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA309040

rs_794729239

5 SubmittersRCV000184147 RCV000554253 RCV001170834 RCV003137708 RCV005025295

NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)

SNV
Germline

Chr2:178611919

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309037

rs_200835354

7 SubmittersRCV000184146 RCV000467045 RCV001704890 RCV002444747 RCV003486744

NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)

SNV
Germline

Chr2:178612115

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309244

rs_754866489

7 SubmittersRCV000505739 RCV000800689 RCV002444748 RCV004017467 RCV004786505

NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)

SNV
Germline

Chr2:178612313

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309971

rs_148018042

10 SubmittersRCV000184587 RCV000471332 RCV000993449 RCV002444750 RCV003335182 RCV003486749

NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)

SNV
Germline

Chr2:178612355

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309241

rs_794729265

5 SubmittersRCV000184225 RCV000209230 RCV000817793 RCV004020242 RCV006605241

NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)

SNV
Germline

Chr2:178612442

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309238

rs_751502842

10 SubmittersRCV000184224 RCV000555213 RCV001170835 RCV001196220 RCV003362717 RCV006697414

NM_001267550.2(TTN):c.49958C>G (p.Ser16653Ter)

SNV
Germline

Chr2:178612567

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309235

rs_746669146

2 SubmittersRCV000184223 RCV005213229

NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)

SNV
Germline

Chr2:178612858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309232

rs_1553699440

2 SubmittersRCV002853099 RCV005772418

NM_001267550.2(TTN):c.49346-2A>T

SNV
Germline

Chr2:178613939

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309231

rs_794729263

2 SubmittersRCV000184221 RCV001377723

NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)

SNV
Germline

Chr2:178614119

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308942

rs_372633280

12 SubmittersRCV000184102 RCV000725473 RCV001078714 RCV002426891 RCV003486743 RCV004539713

NM_001267550.2(TTN):c.49100C>A (p.Ser16367Ter)

SNV
Germline

Chr2:178614297

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309228

rs_794729262

2 SubmittersRCV000184220 RCV006555578

NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)

SNV
Germline

Chr2:178614924

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA309929

rs_368806005

7 SubmittersRCV000643158 RCV001704901 RCV002426895 RCV004537547 RCV006263727

NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)

SNV
Germline

Chr2:178615321

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA308939

rs_72677240

7 SubmittersRCV000184101 RCV000725723 RCV001085243 RCV002426890 RCV003150062

NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)

SNV
Germline

Chr2:178615436

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309923

rs_370809363

6 SubmittersRCV000460733 RCV000769000 RCV001704900 RCV002265671 RCV002415795

NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)

SNV
Germline

Chr2:178615707

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA309914

rs_2303830

7 SubmittersRCV000472131 RCV000727759 RCV000769002 RCV001135857 RCV001135854 RCV001135855 RCV001135856 RCV001135858 RCV003235107

NM_001267550.2(TTN):c.48306G>A (p.Trp16102Ter)

SNV
Germline

Chr2:178616485

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA309225

rs_771672410

1 SubmittersRCV000184219

NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)

SNV
Germline

Chr2:178616508

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309222

rs_374140736

9 SubmittersRCV000184218 RCV000621940 RCV000796818 RCV001256709 RCV004596103

NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)

SNV
Germline

Chr2:178616627

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309911

rs_72677238

5 SubmittersRCV000184566 RCV000227076 RCV000254392 RCV001704899

NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)

SNV
Germline

Chr2:178616891

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309902

rs_201388509

15 SubmittersRCV000591920 RCV000621855 RCV000725808 RCV001128988 RCV001082934 RCV001128984 RCV001128985 RCV001128986 RCV001128987 RCV004537546

NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)

SNV
Germline

Chr2:178617835

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309893

rs_764388462

6 SubmittersRCV000464661 RCV000727858 RCV002415794 RCV004525888

NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)

SNV
Germline

Chr2:178617872

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309219

rs_794729261

3 SubmittersRCV000184217 RCV005222808

NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)

SNV
Germline

Chr2:178620048

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309875

rs_753664074

6 SubmittersRCV000213404 RCV000534921 RCV002478637 RCV006277734

NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)

SNV
Germline

Chr2:178620054

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA309872

rs_370813526

10 SubmittersRCV000620672 RCV000725090 RCV000643632 RCV001133067 RCV001136509 RCV001133066 RCV001136508 RCV001136510 RCV003486748 RCV004734816 RCV006649956

NM_001267550.2(TTN):c.45724A>G (p.Arg15242Gly)

SNV
Germline

Chr2:178620886

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA309853

rs_373778707

2 SubmittersRCV000184538

NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)

SNV
Germline

Chr2:178621612

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309841

rs_184078045

7 SubmittersRCV000260782 RCV000266937 RCV000310252 RCV000324442 RCV000359282 RCV000471038 RCV000725050 RCV002408819 RCV006263726

NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)

SNV
Germline

Chr2:178622683

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309829

rs_752671402

3 SubmittersRCV000232621 RCV001704898

NM_001267550.2(TTN):c.44816-1G>A

SNV
Germline

Chr2:178622768

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Autosomal recessive TTN-related disorders

Criteria Provided
Conflicting Classifications

CA309215

rs_749705939

8 SubmittersRCV000184214 RCV000476723 RCV000509547 RCV002399687 RCV006699230

NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)

SNV
Germline

Chr2:178630250

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
not specified
Cardiovascular phenotype
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA309212

rs_140743001

15 SubmittersRCV000538338 RCV000495986 RCV000599630 RCV000623485 RCV000769014 RCV001818448 RCV002399686 RCV005237672

NM_001267550.2(TTN):c.44154+6G>T

SNV
Germline

Chr2:178630798

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308937

rs_794729234

4 SubmittersRCV000184099 RCV000549621 RCV006445538

NM_001267550.2(TTN):c.43748-1G>A

SNV
Germline

Chr2:178631301

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309211

rs_794729259

2 SubmittersRCV000184212 RCV001296920

NM_001267550.2(TTN):c.43747+1G>T

SNV
Germline

Chr2:178632146

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309210

rs_751914344

3 SubmittersRCV000184211 RCV005429005 RCV006555577

NM_001267550.2(TTN):c.43604G>A (p.Arg14535His)

SNV
Germline

Chr2:178632290

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA309811

rs_764250397

2 SubmittersRCV001704896

NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro)

SNV
Germline

Chr2:178633323

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA309802

rs_727505144

6 SubmittersRCV000315812 RCV000273360 RCV000279393 RCV000380458 RCV000373977 RCV000865015 RCV001721156 RCV004734815 RCV005406911

NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr)

SNV
Germline

Chr2:178634065

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309793

rs_794729427

5 SubmittersRCV000184512 RCV000260211 RCV000318789 RCV000282780 RCV000355036 RCV000322746 RCV000769024 RCV002390480 RCV004700556

NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)

SNV
Germline

Chr2:178634567

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309207

rs_794729258

3 SubmittersRCV000477074 RCV001704892 RCV002390476

NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)

SNV
Germline

Chr2:178635531

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309488

rs_794729380

4 SubmittersRCV000184386 RCV001852396 RCV004678630 RCV005237674

NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)

SNV
Germline

Chr2:178636083

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309778

rs_149059189

11 SubmittersRCV000241687 RCV000724877 RCV001082051 RCV001798649 RCV002282012 RCV004734814

NM_001267550.2(TTN):c.41428G>A (p.Val13810Met)

SNV
Germline

Chr2:178636143

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309775

rs_763668057

2 SubmittersRCV000184506 RCV000343809 RCV000370464 RCV000309772 RCV000399409 RCV000392746

NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)

SNV
Germline

Chr2:178639779

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309755

rs_370418677

6 SubmittersRCV000184499 RCV000643131 RCV000622210 RCV003137715

NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala)

SNV
Germline

Chr2:178641279

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309022

rs_756446770

2 SubmittersRCV000184140 RCV000726507

NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)

SNV
Germline

Chr2:178645976

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309746

rs_370048456

3 SubmittersRCV000184496 RCV000229755

NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)

SNV
Germline

Chr2:178652141

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA309718

rs_72650062

7 SubmittersRCV000643813 RCV000725487 RCV005437979

NM_001267550.2(TTN):c.38214A>T (p.Glu12738Asp)

SNV
Germline

Chr2:178654527

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA309703

rs_794729417

2 SubmittersRCV004700555

NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu)

SNV
Germline

Chr2:178654790

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309701

rs_794729416

3 SubmittersRCV000184479 RCV000226174

NM_001267550.2(TTN):c.38122+2T>C

SNV
Germline

Chr2:178654910

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309206

rs_781392575

5 SubmittersRCV000184207 RCV004537541 RCV005361090

NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)

SNV
Germline

Chr2:178672115

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309019

rs_376117402

4 SubmittersRCV000184138 RCV000730209

NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)

SNV
Germline

Chr2:178672216

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA309698

rs_199561793

6 SubmittersRCV000551399 RCV000726155 RCV003987429

NM_001267550.2(TTN):c.34855+1G>A

SNV
Germline

Chr2:178672634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309200

rs_377319699

4 SubmittersRCV000184205 RCV001223422 RCV004734811

NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)

SNV
Germline

Chr2:178675050

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309016

rs_376836503

6 SubmittersRCV000282866 RCV000343895 RCV000378554 RCV000400624 RCV000342567 RCV000558741 RCV001721146

NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)

SNV
Germline

Chr2:178675080

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309680

rs_201622536

8 SubmittersRCV000280444 RCV000560087 RCV000725081

NM_001267550.2(TTN):c.33173-1G>A

SNV
Germline

Chr2:178681451

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309196

rs_794729256

3 SubmittersRCV000184203 RCV001852384 RCV005415557

NM_001267550.2(TTN):c.32705C>T (p.Ala10902Val)

SNV
Germline

Chr2:178684347

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309635

rs_778076110

3 SubmittersRCV001721154 RCV005404357 RCV006697693

NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)

SNV
Germline

Chr2:178684392

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA309626

rs_371538856

4 SubmittersRCV000466533 RCV001721153 RCV006688581

NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)

SNV
Germline

Chr2:178689055

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309620

rs_200161147

11 SubmittersRCV000184445 RCV000223128 RCV000768884 RCV001080545 RCV004537544

NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val)

SNV
Germline

Chr2:178689094

Conflicting classifications of pathogenicity

6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309617

rs_794729407

3 SubmittersRCV002485238 RCV003148668

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)

SNV
Germline

Chr2:178689122

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309614

rs_200952728

12 SubmittersRCV000184443 RCV000218769 RCV000643729 RCV000765584 RCV001135865 RCV001135867 RCV001134398 RCV001135864 RCV001135866 RCV003150065

NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp)

SNV
Germline

Chr2:178689818

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309605

rs_376754004

3 SubmittersRCV000184440 RCV003137711

NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)

SNV
Germline

Chr2:178693963

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309599

rs_769226745

5 SubmittersRCV000215019 RCV000457716 RCV000852877

NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)

SNV
Germline

Chr2:178693994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309596

rs_370208651

5 SubmittersRCV000184436 RCV000729422 RCV001136174 RCV001136176 RCV001170627 RCV001132780 RCV001132781 RCV001136175

NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)

SNV
Germline

Chr2:178695958

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309590

rs_200831060

12 SubmittersRCV000273981 RCV000365255 RCV000313900 RCV000329199 RCV000368569 RCV000474657 RCV000733449 RCV003387790 RCV004539718

NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)

SNV
Germline

Chr2:178702498

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309575

rs_373355159

17 SubmittersRCV000275207 RCV000327843 RCV000384755 RCV000345471 RCV000379169 RCV000538876 RCV000714009 RCV000764339 RCV001270046 RCV002282011 RCV003486747

NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)

SNV
Germline

Chr2:178704710

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309566

rs_373651676

3 SubmittersRCV000524612 RCV000768897 RCV001704895

NM_001267550.2(TTN):c.29314G>A (p.Val9772Met)

SNV
Germline

Chr2:178706560

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309563

rs_563073635

4 SubmittersRCV000184423 RCV003150064 RCV005632287

NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)

SNV
Germline

Chr2:178706629

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA211191

rs_746721983

9 SubmittersRCV000195104 RCV000517677 RCV001066897 RCV005365107 RCV006555576

NM_001267550.2(TTN):c.29042-2A>C

SNV
Germline

Chr2:178706956

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309191

rs_6716782

15 SubmittersRCV000184197 RCV000209530 RCV000725218 RCV000852882 RCV001084964 RCV001336905 RCV004537540

NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)

SNV
Germline

Chr2:178709586

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA312145

rs_184923756

8 SubmittersRCV000554086 RCV000714005 RCV005404370 RCV005625397

NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)

SNV
Germline

Chr2:178711138

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312130

rs_374930292

4 SubmittersRCV000473059 RCV001704962 RCV006688585

NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)

SNV
Germline

Chr2:178712121

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312121

rs_766638714

5 SubmittersRCV000540945 RCV001704961 RCV005404369

NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu)

SNV
Germline

Chr2:178714101

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA312109

rs_757381520

2 SubmittersRCV000725006

NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)

SNV
Germline

Chr2:178714553

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312103

rs_538959125

4 SubmittersRCV000185453 RCV000868410 RCV001336903 RCV004734829

NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)

SNV
Germline

Chr2:178715025

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312097

rs_777730788

5 SubmittersRCV000185451 RCV000643774 RCV001293081 RCV003137761 RCV004539731

NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)

SNV
Germline

Chr2:178715158

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309537

rs_794729389

3 SubmittersRCV000184405 RCV001852400 RCV005252795

NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)

SNV
Germline

Chr2:178715561

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312088

rs_369947439

5 SubmittersRCV000461658 RCV000725269 RCV003323436

NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)

SNV
Germline

Chr2:178717097

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312082

rs_548471822

4 SubmittersRCV000545269 RCV001704959 RCV001778776

NM_001267550.2(TTN):c.25247C>T (p.Thr8416Ile)

SNV
Germline

Chr2:178717627

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA312076

rs_794729631

2 SubmittersRCV000185444

NM_001267550.2(TTN):c.25235A>G (p.His8412Arg)

SNV
Germline

Chr2:178717639

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312073

rs_775392484

2 SubmittersRCV001704958 RCV005418001

NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)

SNV
Germline

Chr2:178717729

Conflicting classifications of pathogenicity

Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA312070

rs_199598066

5 SubmittersRCV000728837 RCV004998392 RCV005396561

NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)

SNV
Germline

Chr2:178717808

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312067

rs_201810836

7 SubmittersRCV000185441 RCV000468163 RCV001136400 RCV001136402 RCV001136403 RCV001136404 RCV001136401 RCV001293230 RCV004539730

NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)

SNV
Germline

Chr2:178718337

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA312061

rs_371322658

5 SubmittersRCV000642898 RCV001133190 RCV001133192 RCV001133194 RCV001133191 RCV001133193 RCV001170868 RCV001704957 RCV002227936

NM_001267550.2(TTN):c.24619G>A (p.Asp8207Asn)

SNV
Germline

Chr2:178718487

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA312058

rs_756813056

2 SubmittersRCV001721185

NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr)

SNV
Germline

Chr2:178720064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312040

rs_138076523

3 SubmittersRCV000643054 RCV001130659 RCV001130661 RCV001130660 RCV001130662 RCV001130663 RCV001721184

NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln)

SNV
Germline

Chr2:178720198

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA312037

rs_372804810

3 SubmittersRCV000725917

NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)

SNV
Germline

Chr2:178720547

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309391

rs_372250586

3 SubmittersRCV000184293 RCV001852388

NM_001267550.2(TTN):c.23068G>A (p.Ala7690Thr)

SNV
Germline

Chr2:178720951

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA312025

rs_763029699

2 SubmittersRCV001704956

NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu)

SNV
Germline

Chr2:178721097

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA312022

rs_369508943

7 SubmittersRCV000993401 RCV000770073 RCV005404368

NM_001267550.2(TTN):c.22667G>A (p.Arg7556His)

SNV
Germline

Chr2:178721996

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA312016

rs_374344734

2 SubmittersRCV001704955

NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)

SNV
Germline

Chr2:178722348

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA312010

rs_201065037

7 SubmittersRCV000467240 RCV000727733 RCV001135647 RCV001135649 RCV001135645 RCV001135646 RCV001135648

NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)

SNV
Germline

Chr2:178722367

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA312007

rs_759713604

7 SubmittersRCV000185409 RCV000304195 RCV000275340 RCV000329111 RCV000365247 RCV000363577 RCV000458691 RCV001798659 RCV003422080 RCV005625396

NM_001267550.2(TTN):c.22412A>G (p.Asp7471Gly)

SNV
Germline

Chr2:178722375

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312004

rs_760724710

3 SubmittersRCV000185408 RCV005632303

NM_001267550.2(TTN):c.22312C>T (p.Leu7438Phe)

SNV
Germline

Chr2:178722475

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312001

rs_371114946

3 SubmittersRCV001721183 RCV006649960

NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)

SNV
Germline

Chr2:178723444

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311968

rs_201029552

11 SubmittersRCV000213535 RCV000251604 RCV000296518 RCV000335093 RCV000406874 RCV000338709 RCV000401816 RCV000470210 RCV000725490 RCV000770079

NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)

SNV
Germline

Chr2:178723579

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA311959

rs_764832849

5 SubmittersRCV000726509

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

SNV
Germline

Chr2:178723927

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA311951

rs_374408615

6 SubmittersRCV000220902 RCV000643152 RCV001721182 RCV005025301

NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)

SNV
Germline

Chr2:178723983

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA308996

rs_372264428

6 SubmittersRCV000184129 RCV000725528 RCV001087956 RCV001798644

NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)

SNV
Germline

Chr2:178724062

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311948

rs_553548392

7 SubmittersRCV000185387 RCV000713984 RCV001087209 RCV004537571

NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)

SNV
Germline

Chr2:178724373

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA311945

rs_200594798

11 SubmittersRCV000329170 RCV000724998 RCV001086431 RCV002222434

NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu)

SNV
Germline

Chr2:178724451

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA309188

rs_374493881

2 SubmittersRCV000184196

NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)

SNV
Germline

Chr2:178725904

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311930

rs_768932465

5 SubmittersRCV000281508 RCV000296750 RCV000336597 RCV000351488 RCV000399478 RCV001704954 RCV005406913

NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)

SNV
Germline

Chr2:178727257

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA311913

rs_546821182

5 SubmittersRCV000727008 RCV001132029 RCV001132031 RCV001132030 RCV001132032 RCV001132033 RCV005892120

NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)

SNV
Germline

Chr2:178727308

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311910

rs_202022304

6 SubmittersRCV000543382 RCV000764349 RCV001508476

NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)

SNV
Germline

Chr2:178727656

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311907

rs_747240394

9 SubmittersRCV000220599 RCV000469447 RCV000852898 RCV003137756 RCV004537570

NM_001267550.2(TTN):c.19162G>A (p.Val6388Ile)

SNV
Germline

Chr2:178728764

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311892

rs_550617268

3 SubmittersRCV001704953 RCV004800323

NM_001267550.2(TTN):c.18893T>C (p.Ile6298Thr)

SNV
Germline

Chr2:178729145

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA309180

rs_375571785

4 SubmittersRCV001704891 RCV005396556

NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)

SNV
Germline

Chr2:178729703

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA311880

rs_72648947

9 SubmittersRCV000253609 RCV000469338 RCV000727793 RCV000852903 RCV003317137

NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)

SNV
Germline

Chr2:178729846

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311877

rs_117551279

8 SubmittersRCV000726445 RCV000769071 RCV001081900 RCV001129966 RCV001129965 RCV001129963 RCV001129964 RCV001135006 RCV001729441 RCV004537569

NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)

SNV
Germline

Chr2:178729874

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311874

rs_370812788

13 SubmittersRCV000215380 RCV000253515 RCV000726101 RCV001079996 RCV001798658 RCV004537568

NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)

SNV
Germline

Chr2:178730228

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311868

rs_189127014

13 SubmittersRCV000185356 RCV000543023 RCV000726954 RCV002274948 RCV003486763

NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser)

SNV
Germline

Chr2:178730329

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA311865

rs_759852969

2 SubmittersRCV001721181

NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)

SNV
Germline

Chr2:178730363

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311862

rs_548015673

6 SubmittersRCV000228104 RCV000769074 RCV001508479

NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)

SNV
Germline

Chr2:178730640

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311859

rs_752226947

4 SubmittersRCV000468744 RCV001721180

NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)

SNV
Germline

Chr2:178730662

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311856

rs_181067357

13 SubmittersRCV000185352 RCV000231532 RCV000299916 RCV000305709 RCV000345779 RCV000395936 RCV000401300 RCV000852906 RCV005404367

NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe)

SNV
Germline

Chr2:178732179

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309174

rs_754116386

3 SubmittersRCV000184192 RCV003486745

NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)

SNV
Germline

Chr2:178733019

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309171

rs_375417155

3 SubmittersRCV000184191 RCV001534590

NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)

SNV
Germline

Chr2:178733283

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311812

rs_752924679

6 SubmittersRCV000185337 RCV000557356 RCV003150080

NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)

SNV
Germline

Chr2:178733307

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311809

rs_202234492

10 SubmittersRCV000279145 RCV000227527 RCV000323716 RCV000338828 RCV000373151 RCV000374753 RCV000592445 RCV000725625 RCV001170869

NM_001267550.2(TTN):c.15956A>C (p.Lys5319Thr)

SNV
Germline

Chr2:178733337

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309168

rs_779733584

2 SubmittersRCV000184190 RCV006277733

NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)

SNV
Germline

Chr2:178734739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311788

rs_371687650

3 SubmittersRCV000185330 RCV000727794 RCV001087897

NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)

SNV
Germline

Chr2:178735535

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206732

rs_537312655

7 SubmittersRCV000193330 RCV000550893 RCV000852915 RCV001706160

NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)

SNV
Germline

Chr2:178735658

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA311782

rs_201744218

7 SubmittersRCV000591089 RCV000726948 RCV001087944

NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)

SNV
Germline

Chr2:178735784

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311776

rs_376799249

5 SubmittersRCV000185323 RCV000231783 RCV001170873 RCV003137753 RCV004734826

NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)

SNV
Germline

Chr2:178738301

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA311761

rs_757119133

4 SubmittersRCV000464161 RCV001704950 RCV002381621 RCV003233492

NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter)

SNV
Germline

Chr2:178739319

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309534

rs_794729388

2 SubmittersRCV000184404 RCV001852399

NM_001267550.2(TTN):c.13897A>G (p.Lys4633Glu)

SNV
Germline

Chr2:178739336

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA311755

rs_773833776

3 SubmittersRCV000185312

NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)

SNV
Germline

Chr2:178739350

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311752

rs_794729602

4 SubmittersRCV000185311 RCV000643611 RCV002485260 RCV003486762

NM_001267550.2(TTN):c.13819A>G (p.Met4607Val)

SNV
Germline

Chr2:178739414

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309531

rs_371275648

3 SubmittersRCV001721152 RCV002372132

NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)

SNV
Germline

Chr2:178739615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA311746

rs_201046911

7 SubmittersRCV000218512 RCV000727092 RCV001082208 RCV002408826 RCV005025300

NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)

SNV
Germline

Chr2:178740491

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309383

rs_794729308

3 SubmittersRCV000819265 RCV001704893 RCV002321741

NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)

SNV
Germline

Chr2:178740821

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA311740

rs_377290301

3 SubmittersRCV000185301 RCV002321749 RCV002478649

NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)

SNV
Germline

Chr2:178740829

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311737

rs_565638291

4 SubmittersRCV000643391 RCV000729230

NM_133379.5(TTN):c.16436T>G (p.Ile5479Arg)

SNV
Germline

Chr2:178745964

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA311713

rs_142371552

2 SubmittersRCV000185283

NM_133379.5(TTN):c.16393C>T (p.Arg5465Trp)

SNV
Germline

Chr2:178746007

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA311710

rs_794729599

2 SubmittersRCV000185281

NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)

SNV
Germline

Chr2:178747278

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA311677

rs_148791107

6 SubmittersRCV000217022 RCV000727056 RCV002500565

NM_133379.5(TTN):c.14656A>G (p.Asn4886Asp)

SNV
Germline

Chr2:178747744

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311674

rs_753546575

2 SubmittersRCV000185265 RCV003430732

NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly)

SNV
Germline

Chr2:178748814

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA311659

rs_138927584

5 SubmittersRCV000185258 RCV000727193 RCV002492854

NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr)

SNV
Germline

Chr2:178749247

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA311644

rs_374639358

3 SubmittersRCV000185251 RCV002478647

NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr)

SNV
Germline

Chr2:178749876

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA311641

rs_72647899

4 SubmittersRCV000731148 RCV004734824 RCV006649959

NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu)

SNV
Germline

Chr2:178750751

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA311619

rs_148581002

3 SubmittersRCV000185238 RCV002485258

NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)

SNV
Germline

Chr2:178764242

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311577

rs_139504522

11 SubmittersRCV000595289 RCV000726573 RCV000769099 RCV001087649 RCV002381619

NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)

SNV
Germline

Chr2:178764664

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311567

rs_147903846

7 SubmittersRCV000642866 RCV001704948 RCV002372139 RCV003150078 RCV003330548

NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)

SNV
Germline

Chr2:178764688

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309159

rs_377049518

5 SubmittersRCV000184187 RCV000725359 RCV001129766 RCV001129765 RCV001134748 RCV001134749 RCV001134750 RCV002372127

NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser)

SNV
Germline

Chr2:178764746

Conflicting classifications of pathogenicity

not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311557

rs_374521620

5 SubmittersRCV000185214 RCV002492851 RCV003137751

NM_001267550.2(TTN):c.9163+3A>G

SNV
Germline

Chr2:178768670

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA308982

rs_760597240

2 SubmittersRCV000184119 RCV002519566

NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His)

SNV
Germline

Chr2:178768682

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA311532

rs_763833161

2 SubmittersRCV001704947

NM_001267550.2(TTN):c.8380+1G>A

SNV
Germline

Chr2:178770411

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309379

rs_794729306

2 SubmittersRCV000184288 RCV003765150

NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr)

SNV
Germline

Chr2:178773148

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311490

rs_375286376

3 SubmittersRCV000642893 RCV001704946 RCV006456807

NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)

SNV
Germline

Chr2:178773206

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA311485

rs_556000493

9 SubmittersRCV000538379 RCV001704945 RCV002390484 RCV006649958

NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)

SNV
Germline

Chr2:178773336

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Sudden cardiac arrest
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309149

rs_765136135

5 SubmittersRCV000643624 RCV000852929 RCV002390475 RCV004589838

NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)

SNV
Germline

Chr2:178773852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311464

rs_142129359

5 SubmittersRCV000216418 RCV000997593 RCV002372138

NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met)

SNV
Germline

Chr2:178775402

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311434

rs_780879621

4 SubmittersRCV000185181 RCV000852933 RCV003987431

NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)

SNV
Germline

Chr2:178775505

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311424

rs_141142920

11 SubmittersRCV000185179 RCV000872240 RCV001128778 RCV001128779 RCV001128775 RCV001128776 RCV001128777 RCV001528299 RCV002362972

NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)

SNV
Germline

Chr2:178776166

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311394

rs_750823043

4 SubmittersRCV000730575 RCV001293098

NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)

SNV
Germline

Chr2:178776400

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311374

rs_201581947

8 SubmittersRCV000714053 RCV001079944 RCV002345663 RCV006555585 RCV006701226

NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)

SNV
Germline

Chr2:178776874

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311369

rs_147695336

5 SubmittersRCV000185166 RCV000642940 RCV000729514 RCV003486761

NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)

SNV
Germline

Chr2:178777895

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311349

rs_577298130

10 SubmittersRCV000542098 RCV001704944 RCV002327010 RCV003150077 RCV006649957

NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)

SNV
Germline

Chr2:178777914

Conflicting classifications of pathogenicity

6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311344

rs_772479207

4 SubmittersRCV000765591 RCV001509198 RCV005404365

NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)

SNV
Germline

Chr2:178777922

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311339

rs_147254212

5 SubmittersRCV000219663 RCV001170658 RCV001704943

NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)

SNV
Germline

Chr2:178777937

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311329

rs_750278602

5 SubmittersRCV000727217 RCV004537563

NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)

SNV
Germline

Chr2:178779093

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311314

rs_761402128

8 SubmittersRCV000217473 RCV000643782 RCV001706159 RCV002362971

NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)

SNV
Germline

Chr2:178779357

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311304

rs_374497665

8 SubmittersRCV000347920 RCV000725471 RCV001084704 RCV001262304 RCV002345661

NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)

SNV
Germline

Chr2:178780110

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311258

rs_373753003

5 SubmittersRCV000474201 RCV001704942 RCV002453684

NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)

SNV
Germline

Chr2:178782422

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310820

rs_145940356

7 SubmittersRCV000619806 RCV000993421 RCV005404362 RCV004734821

NM_001267550.2(TTN):c.2744G>A (p.Arg915His)

SNV
Germline

Chr2:178784101

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309100

rs_376922544

4 SubmittersRCV000184168 RCV000246716 RCV001721150

NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)

SNV
Germline

Chr2:178784111

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310526

rs_371156190

6 SubmittersRCV000468625 RCV000727179 RCV000765592 RCV002426899

NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)

SNV
Germline

Chr2:178785727

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310273

rs_766935265

11 SubmittersRCV000304650 RCV000289199 RCV000344293 RCV000344680 RCV000340841 RCV000407072 RCV000557548 RCV000726007 RCV001170665 RCV002415796 RCV004539721

NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)

SNV
Germline

Chr2:178785988

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308962

rs_144639994

6 SubmittersRCV000184111 RCV000552070 RCV001086311 RCV002415792 RCV004539714

NM_001267550.2(TTN):c.1743G>A (p.Pro581=)

SNV
Germline

Chr2:178790765

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308931

rs_138560523

4 SubmittersRCV000184097 RCV000352620 RCV000307349 RCV000392829 RCV000347041 RCV000398500 RCV000864570 RCV004537537

NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)

SNV
Germline

Chr2:178792118

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309733

rs_774503024

5 SubmittersRCV000184493 RCV000227362 RCV002390477 RCV003137714

NM_001267550.2(TTN):c.1513C>T (p.Gln505Ter)

SNV
Germline

Chr2:178793427

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309201

rs_794729257

2 SubmittersRCV000184206 RCV005213228

NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)

SNV
Germline

Chr2:178795101

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA309658

rs_144531477

12 SubmittersRCV000184463 RCV000215227 RCV000307624 RCV000347083 RCV000301950 RCV000400273 RCV000392883 RCV000553458 RCV002408817 RCV005625393

NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr2:178799836

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309386

rs_748313513

5 SubmittersRCV000184292 RCV001339180 RCV002372130 RCV003486746

NM_001267550.2(TTN):c.485T>A (p.Leu162Gln)

SNV
Germline

Chr2:178800493

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311804

rs_145438758

3 SubmittersRCV000456623 RCV001721179 RCV002336491

NM_001267550.2(TTN):c.416G>A (p.Arg139Gln)

SNV
Germline

Chr2:178800562

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311799

rs_780003580

5 SubmittersRCV000185333 RCV001140711 RCV001140708 RCV001140709 RCV001140710 RCV001140712 RCV003137754 RCV004537566

NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)

SNV
Germline

Chr2:178800563

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
not specified
6 conditions
Hypertrophic cardiomyopathy 9
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311794

rs_752970602

11 SubmittersRCV000185332 RCV000466012 RCV000620159 RCV001798657 RCV001824666 RCV002485261 RCV003387791 RCV004734827

NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)

SNV
Germline

Chr2:178538795

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA276022

rs_771511344

5 SubmittersRCV000190634 RCV001237073 RCV002254915 RCV004020303

NM_001267550.2(TTN):c.1051G>A (p.Val351Met)

SNV
Germline

Chr2:178795116

Conflicting classifications of pathogenicity

Abnormality of neuronal migration
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA210245

rs_772889673

3 SubmittersRCV000201427 RCV000642920 RCV003486764

NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)

SNV
Germline

Chr2:178535002

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA207718

rs_797046068

5 SubmittersRCV000193915 RCV001711504 RCV001431794 RCV002381658

NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

SNV
Germline

Chr2:178537626

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA209318

rs_140025425

6 SubmittersRCV000194864 RCV000643786 RCV000727832 RCV001798661

NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)

SNV
Germline

Chr2:178572138

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA206721

rs_144398602

7 SubmittersRCV000193322 RCV000727062 RCV000852504 RCV002336518

NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)

SNV
Germline

Chr2:178594422

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA208075

rs_371973579

6 SubmittersRCV000194123 RCV000534507 RCV001721264 RCV002321778

NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

SNV
Germline

Chr2:178598544

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248822

rs_181957743

6 SubmittersRCV000192710 RCV000464720 RCV001697236

NM_001267550.2(TTN):c.56963-3C>T

SNV
Germline

Chr2:178598657

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209596

rs_375979145

4 SubmittersRCV000195040 RCV000642789 RCV001697235

NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)

SNV
Germline

Chr2:178609423

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209392

rs_200456782

8 SubmittersRCV000194914 RCV000642862 RCV002453712 RCV003137776

NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)

SNV
Germline

Chr2:178706477

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205833

rs_770084292

4 SubmittersRCV000192777 RCV001311968

NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)

SNV
Germline

Chr2:178725967

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA207112

rs_549470227

4 SubmittersRCV000193553 RCV000839157 RCV001087750 RCV004541253

NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)

SNV
Germline

Chr2:178731539

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208675

rs_377193479

5 SubmittersRCV000194485 RCV000477015 RCV000725421

NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)

SNV
Germline

Chr2:178759105

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA209552

rs_797046059

3 SubmittersRCV000195006 RCV000726185 RCV002517986

NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)

SNV
Germline

Chr2:178528797

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA351280

rs_565675340

5 SubmittersRCV001228460 RCV001782733 RCV005409638

NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)

SNV
Germline

Chr2:178620285

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA090328

rs_368200299

6 SubmittersRCV000209311 RCV000770025 RCV001853337 RCV003137799 RCV004530254 RCV005051763

NM_001267550.2(TTN):c.43978G>A (p.Gly14660Arg)

SNV
Germline

Chr2:178631070

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA249287

rs_762795774

2 SubmittersRCV000203087

NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)

SNV
Germline

Chr2:178735633

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA249334

rs_560537668

13 SubmittersRCV000203132 RCV000467493 RCV000726058 RCV001132789 RCV001132785 RCV001132786 RCV001132787 RCV001132788

NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)

SNV
Germline

Chr2:178531679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349948

rs_376634193

10 SubmittersRCV000205837 RCV000253506 RCV000298099 RCV000825259 RCV001798686 RCV004530234

NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)

SNV
Germline

Chr2:178579593

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA348224

rs_375676529

9 SubmittersRCV000203942 RCV000245927 RCV000291189 RCV001798687 RCV003401109 RCV004530235

NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)

SNV
Germline

Chr2:178663311

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cervical cancer
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA349037

rs_12994774

6 SubmittersRCV000204853 RCV000455479 RCV000831880 RCV005893753 RCV005893752

NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)

SNV
Germline

Chr2:178530680

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA079946

rs_779948923

2 SubmittersRCV001377480 RCV002408909

NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)

SNV
Germline

Chr2:178555038

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA351972

rs_869025546

1 SubmittersRCV000208359

NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)

SNV
Germline

Chr2:178566448

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351848

rs_869025545

9 SubmittersRCV000208201 RCV000476366 RCV001731523 RCV002336584 RCV003152696 RCV003133177

NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)

SNV
Germline

Chr2:178578078

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA088467

rs_200797552

1 SubmittersRCV003765348

NM_001267550.2(TTN):c.65576-2A>G

SNV
Germline

Chr2:178583229

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA351934

rs_869025549

2 SubmittersRCV000208314 RCV004764914

NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)

SNV
Germline

Chr2:178594134

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA351816

rs_869025544

1 SubmittersRCV001046289

NM_001267550.2(TTN):c.29962+1G>T

SNV
Germline

Chr2:178704509

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA069979

rs_774961188

3 SubmittersRCV002223818 RCV002515554

NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter)

SNV
Germline

Chr2:178764788

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA353322

rs_869312093

2 SubmittersRCV000209540 RCV004678644

NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter)

SNV
Germline

Chr2:178756624

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA351349

rs_779064556

3 SubmittersRCV000209237 RCV005361218 RCV004764915

NM_001267550.2(TTN):c.15776-1G>T

SNV
Germline

Chr2:178733518

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA353053

rs_869312094

2 SubmittersRCV000208946 RCV006555673

NM_001267550.2(TTN):c.40558+1G>A

SNV
Germline

Chr2:178642236

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA113809

rs_368219776

12 SubmittersRCV000209704 RCV000221188 RCV000456920 RCV000477783 RCV000770044 RCV000725594 RCV002381720 RCV005237728 RCV003992234

NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)

SNV
Germline

Chr2:178589219

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA090295

rs_757231565

6 SubmittersRCV000209294 RCV000621391 RCV001564576 RCV002517417 RCV005861081

NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)

SNV
Germline

Chr2:178565497

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA090067

rs_79926414

2 SubmittersRCV000209109 RCV002517418

NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)

SNV
Germline

Chr2:178539514

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA116537

rs_553821887

7 SubmittersRCV000209760 RCV001201784 RCV002460993 RCV002363044 RCV004764916

NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter)

SNV
Germline

Chr2:178740476

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353074

rs_869312039

2 SubmittersRCV000208993 RCV006555674

NM_001267550.2(TTN):c.33418+1G>A

SNV
Germline

Chr2:178680253

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204011

rs_746588865

4 SubmittersRCV000208933 RCV001308459 RCV002485366 RCV003482243

NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)

SNV
Germline

Chr2:178636098

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA353111

rs_869312043

5 SubmittersRCV000209073 RCV000552893 RCV000593559 RCV002390562 RCV004786558

NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter)

SNV
Germline

Chr2:178620798

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA353342

rs_869312046

1 SubmittersRCV000209593

NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)

SNV
Germline

Chr2:178617388

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA090034

rs_373040154

6 SubmittersRCV000209092 RCV000642714 RCV002485367 RCV004992084 RCV004725067 RCV006699240

NM_001267550.2(TTN):c.47875+1G>A

SNV
Germline

Chr2:178617119

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353271

rs_869312047

2 SubmittersRCV000209417 RCV004786559

NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)

SNV
Germline

Chr2:178615418

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353382

rs_869312048

2 SubmittersRCV000209744 RCV002515565

NM_001267550.2(TTN):c.53881+1G>T

SNV
Germline

Chr2:178605413

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353145

rs_869312051

2 SubmittersRCV000209139 RCV006555675

NM_001267550.2(TTN):c.53881+5G>A

SNV
Germline

Chr2:178605409

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA090650

rs_753527304

9 SubmittersRCV000209576 RCV000597330 RCV002426983 RCV002478753

NM_001267550.2(TTN):c.55303-1G>A

SNV
Germline

Chr2:178601788

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA089784

rs_748369265

7 SubmittersRCV000208956 RCV001215428 RCV001762453 RCV002433918 RCV004530253 RCV005055737

NM_001267550.2(TTN):c.58732+2T>C

SNV
Germline

Chr2:178593566

Likely pathogenic

Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353066

rs_869312054

5 SubmittersRCV000208977 RCV000770000 RCV001853334 RCV002266934 RCV002321825

NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)

SNV
Germline

Chr2:178590794

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353222

rs_869312055

9 SubmittersRCV000209305 RCV001798695 RCV001853335 RCV002453753 RCV001781627 RCV004764917

NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter)

SNV
Germline

Chr2:178576614

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA089618

rs_777602537

1 SubmittersRCV000208894

NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)

SNV
Germline

Chr2:178567948

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353360

rs_869312057

2 SubmittersRCV000209657 RCV001376974

NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)

SNV
Germline

Chr2:178561042

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA090441

rs_770038577

9 SubmittersRCV000209383 RCV000243897 RCV000476159 RCV000788393 RCV003147407 RCV003147408 RCV003147409 RCV003147410 RCV003147411 RCV003147412

NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter)

SNV
Germline

Chr2:178558492

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA353166

rs_869312062

1 SubmittersRCV000209192

NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)

SNV
Germline

Chr2:178548943

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Wolff-Parkinson-White pattern
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353320

rs_869312065

9 SubmittersRCV000209537 RCV000656220 RCV001594385 RCV001853336 RCV004678645 RCV005868116

NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)

SNV
Germline

Chr2:178534619

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353051

rs_869312068

2 SubmittersRCV000208945 RCV001378937

NM_001267550.2(TTN):c.44281+1G>A

SNV
Germline

Chr2:178630240

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA090088

rs_771562210

10 SubmittersRCV000209118 RCV000459817 RCV000786249 RCV001535754 RCV002399773 RCV003317153 RCV004764918

NM_001267550.2(TTN):c.49346-1G>A

SNV
Germline

Chr2:178613938

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353085

rs_869312070

6 SubmittersRCV000209019 RCV000485193 RCV000685093 RCV002415880 RCV005250036

NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter)

SNV
Germline

Chr2:178607114

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA123879

rs_759231562

1 SubmittersRCV000209779

NM_001267550.2(TTN):c.59627-1G>A

SNV
Germline

Chr2:178592278

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA353250

rs_869312073

1 SubmittersRCV000209368

NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)

SNV
Germline

Chr2:178587708

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA130338

rs_764243269

12 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV002057055 RCV001798696 RCV002453754 RCV002503827 RCV004764919

NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)

SNV
Germline

Chr2:178585291

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA090110

rs_768345594

9 SubmittersRCV000209173 RCV001059746 RCV002291595 RCV002347817 RCV004020568 RCV004525901 RCV005025341

NM_001267550.2(TTN):c.69412+1G>A

SNV
Germline

Chr2:178576922

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353374

rs_869312074

2 SubmittersRCV000209713 RCV002517419

NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)

SNV
Germline

Chr2:178557730

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA113780

rs_772121356

2 SubmittersRCV000209702 RCV001853338

NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)

SNV
Germline

Chr2:178548460

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA090755

rs_72648250

9 SubmittersRCV000209605 RCV000578520 RCV000619547 RCV000705561 RCV002503828 RCV004734858 RCV004764920

NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)

SNV
Germline

Chr2:178539559

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353281

rs_869312085

9 SubmittersRCV000209446 RCV000252893 RCV001069588 RCV001798697 RCV003228912 RCV004764921

NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)

SNV
Germline

Chr2:178536302

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353388

rs_869312086

2 SubmittersRCV000209762 RCV005222832

NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)

SNV
Germline

Chr2:178724117

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA089801

rs_770579313

4 SubmittersRCV000208995 RCV000376176 RCV002517420 RCV004783764

NM_001267550.2(TTN):c.30803-2A>G

SNV
Germline

Chr2:178696271

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA353173

rs_869312089

2 SubmittersRCV000209199 RCV006555679

NM_001267550.2(TTN):c.32554+1G>C

SNV
Germline

Chr2:178684905

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA199270

rs_376018437

2 SubmittersRCV000208884 RCV005213233

NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)

SNV
Germline

Chr2:178775509

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353251

rs_869312098

5 SubmittersRCV000209374 RCV002363046 RCV002517421 RCV005401383

NM_001267550.2(TTN):c.9164-2A>T

SNV
Germline

Chr2:178768157

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA090964

rs_777369921

4 SubmittersRCV000209698 RCV001853340 RCV004800336 RCV004719760

NM_001267550.2(TTN):c.14093-1G>A

SNV
Germline

Chr2:178738361

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA353381

rs_869312099

7 SubmittersRCV000209734 RCV000296352 RCV000680134 RCV000794667 RCV002381721 RCV003152599

NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)

SNV
Germline

Chr2:178720256

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA090206

rs_748111134

3 SubmittersRCV000209233 RCV000816854 RCV003137800

NM_001267550.2(TTN):c.39895+1G>T

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204481

rs_749931280

3 SubmittersRCV000208943 RCV000467271 RCV004767154

NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)

SNV
Germline

Chr2:178533207

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA089838

rs_769023413

2 SubmittersRCV000209029 RCV003765351

NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr2:178800653

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA090367

rs_150954246

6 SubmittersRCV000209360 RCV000578708 RCV001221535 RCV002321826

NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)

SNV
Germline

Chr2:178741321

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353384

rs_869312102

2 SubmittersRCV000209746 RCV000642746

NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)

SNV
Germline

Chr2:178739333

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353187

rs_869312103

2 SubmittersRCV000209226 RCV000642707

NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter)

SNV
Germline

Chr2:178635489

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA353041

rs_869312105

1 SubmittersRCV000208928

NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)

SNV
Germline

Chr2:178629441

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA090661

rs_770767998

8 SubmittersRCV000209591 RCV002274963 RCV001853342 RCV004764922 RCV005761984

NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)

SNV
Germline

Chr2:178617393

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA090279

rs_775186117

7 SubmittersRCV000209289 RCV000813627 RCV001781628 RCV001594386 RCV004992085

NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter)

SNV
Germline

Chr2:178613825

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353344

rs_869312108

2 SubmittersRCV000209600 RCV006555680

NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)

SNV
Germline

Chr2:178590230

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353283

rs_869312112

5 SubmittersRCV000209451 RCV000693549 RCV002336586 RCV003486767 RCV004786561

NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter)

SNV
Germline

Chr2:178583706

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA123887

rs_763824247

1 SubmittersRCV000209781

NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter)

SNV
Germline

Chr2:178576255

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA353289

rs_869312114

1 SubmittersRCV000209461

NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)

SNV
Germline

Chr2:178573023

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353396

rs_869312115

4 SubmittersRCV000209791 RCV003486768 RCV003765353 RCV004678646

NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)

SNV
Germline

Chr2:178567141

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA090197

rs_779996703

4 SubmittersRCV000209202 RCV001068680 RCV004786562 RCV004696875

NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)

SNV
Germline

Chr2:178562617

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353024

rs_869312118

5 SubmittersRCV000208903 RCV000469859 RCV002262799 RCV004020570

NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)

SNV
Germline

Chr2:178561756

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353231

rs_869312119

5 SubmittersRCV000209333 RCV001378681 RCV002494547 RCV005298465 RCV006263761

NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)

SNV
Germline

Chr2:178546476

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353192

rs_869312121

9 SubmittersRCV000209239 RCV001853344 RCV002363050 RCV002469070 RCV003335226 RCV004786563 RCV006704630

NM_001267550.2(TTN):c.106531+2T>A

SNV
Germline

Chr2:178529958

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA16616824

rs_878854373

1 SubmittersRCV004020909

NM_001267550.2(TTN):c.67349-2A>C

SNV
Germline

Chr2:178579850

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1991314

rs_753948675

6 SubmittersRCV001047479 RCV001571802 RCV002494674 RCV003150141 RCV004017533

NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)

SNV
Germline

Chr2:178589003

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16602263

rs_543860009

7 SubmittersRCV000424753 RCV000787942 RCV001063221 RCV003362735 RCV004558604

NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter)

SNV
Germline

Chr2:178781154

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10575973

rs_878854391

2 SubmittersRCV000229941 RCV006555684

NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)

SNV
Germline

Chr2:178532093

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357992

rs_373709706

9 SubmittersRCV000210543 RCV000518156 RCV001130041 RCV001130042 RCV001130043 RCV001135066 RCV001130044 RCV001571070 RCV002399774

NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)

SNV
Germline

Chr2:178527455

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1984914

rs_201298767

6 SubmittersRCV000214103 RCV000464566 RCV000727309 RCV002415907

NM_001267550.2(TTN):c.107223+1G>A

SNV
Germline

Chr2:178528527

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10576446

rs_876658102

2 SubmittersRCV000220398 RCV000694679

NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)

SNV
Germline

Chr2:178530023

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985100

rs_199663911

8 SubmittersRCV000220985 RCV000643500 RCV001171220 RCV001551195 RCV002227461 RCV002415906

NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)

SNV
Germline

Chr2:178530515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985165

rs_377056111

4 SubmittersRCV000216660 RCV001560734 RCV003150115

NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)

SNV
Germline

Chr2:178532702

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985523

rs_371528685

3 SubmittersRCV000215601 RCV000278285 RCV000318098 RCV000375123 RCV000335727 RCV000404751 RCV001722172

NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)

SNV
Germline

Chr2:178532756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985533

rs_367927066

3 SubmittersRCV000215552 RCV001556986 RCV000768832

NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)

SNV
Germline

Chr2:178533035

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985583

rs_370618537

5 SubmittersRCV000219152 RCV000245827 RCV000643650 RCV000725877

NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)

SNV
Germline

Chr2:178533101

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985592

rs_761105256

4 SubmittersRCV000221822 RCV000725519 RCV006555697

NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)

SNV
Germline

Chr2:178533181

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985604

rs_376371272

6 SubmittersRCV000217480 RCV000230688 RCV002223195 RCV002390586

NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)

SNV
Germline

Chr2:178535237

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA1985896

rs_200675195

12 SubmittersRCV000220026 RCV000466841 RCV000730725 RCV000769858 RCV002381750 RCV004734872 RCV005396703

NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp)

SNV
Germline

Chr2:178536185

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986018

rs_370516977

3 SubmittersRCV000214008 RCV002381749

NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)

SNV
Germline

Chr2:178536350

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1986033

rs_189626540

9 SubmittersRCV000220297 RCV000470440 RCV000731446 RCV002381748 RCV003448290

NM_001267550.2(TTN):c.99866-1G>A

SNV
Germline

Chr2:178537244

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576454

rs_876657672

2 SubmittersRCV000222308 RCV006633906

NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)

SNV
Germline

Chr2:178539214

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986319

rs_375361462

4 SubmittersRCV000217102 RCV000730989 RCV001089282 RCV004020603

NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)

SNV
Germline

Chr2:178542360

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986564

rs_55915651

6 SubmittersRCV000223489 RCV000462887 RCV001571378 RCV001798710 RCV004734871

NM_001267550.2(TTN):c.97319G>A (p.Arg32440His)

SNV
Germline

Chr2:178542437

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986578

rs_750047570

4 SubmittersRCV000214855 RCV000266268 RCV000320900 RCV000320208 RCV000380124 RCV000374731 RCV003150114 RCV004734870

NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)

SNV
Germline

Chr2:178542558

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986597

rs_373876117

12 SubmittersRCV000222441 RCV000525107 RCV000766676 RCV001130879 RCV001133849 RCV001133850 RCV001130880 RCV001130881 RCV002365162

NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp)

SNV
Germline

Chr2:178543166

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10576456

rs_876658095

3 SubmittersRCV000215701 RCV002365161

NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter)

SNV
Germline

Chr2:178543876

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA10576457

rs_876657671

1 SubmittersRCV000213569

NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)

SNV
Germline

Chr2:178543971

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA1986808

rs_374063064

11 SubmittersRCV000221381 RCV000307260 RCV000312975 RCV000393913 RCV000348077 RCV000367679 RCV000465608 RCV000620724 RCV000728761 RCV003486777 RCV005025352

NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)

SNV
Germline

Chr2:178546087

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986999

rs_150930737

7 SubmittersRCV000216475 RCV000643296 RCV001582732 RCV002363068

NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)

SNV
Germline

Chr2:178548448

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987342

rs_750303653

3 SubmittersRCV000213571 RCV000643311

NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)

SNV
Germline

Chr2:178548495

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987351

rs_570464905

10 SubmittersRCV000220841 RCV000301428 RCV000356180 RCV000304616 RCV000340685 RCV000401224 RCV000537936 RCV001171246 RCV001574925 RCV002365160

NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)

SNV
Germline

Chr2:178549264

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987454

rs_199891245

5 SubmittersRCV000219688 RCV000535204 RCV001133352 RCV001133351 RCV001134820 RCV001134818 RCV001134819 RCV001311946

NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)

SNV
Germline

Chr2:178551950

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987713

rs_759474127

6 SubmittersRCV000223043 RCV001569293

NM_001267550.2(TTN):c.89946C>T (p.Val29982=)

SNV
Germline

Chr2:178552954

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987850

rs_373311459

7 SubmittersRCV000214474 RCV000726709 RCV001087070 RCV002363067

NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)

SNV
Germline

Chr2:178553385

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987898

rs_750806089

6 SubmittersRCV000218780 RCV001553176

NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)

SNV
Germline

Chr2:178553648

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987940

rs_753966916

6 SubmittersRCV000215758 RCV001589138

NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)

SNV
Germline

Chr2:178559695

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10576468

rs_868494032

3 SubmittersRCV000216926 RCV000283799 RCV005213237

NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)

SNV
Germline

Chr2:178560047

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988556

rs_773001228

4 SubmittersRCV000222129 RCV000734322 RCV001403631 RCV002354602

NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)

SNV
Germline

Chr2:178560622

Likely pathogenic

Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10576469

rs_876657670

2 SubmittersRCV000213508 RCV000769913

NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)

SNV
Germline

Chr2:178562557

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988902

rs_761633407

4 SubmittersRCV000217171 RCV000476633 RCV003137818

NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)

SNV
Germline

Chr2:178564282

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989144

rs_746222222

2 SubmittersRCV000216643 RCV000727540

NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter)

SNV
Germline

Chr2:178565638

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576478

rs_780512337

2 SubmittersRCV000220480 RCV000480047

NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)

SNV
Germline

Chr2:178569458

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989873

rs_375553630

4 SubmittersRCV000219488 RCV000315000 RCV000280449 RCV000349422 RCV000351022 RCV000375368 RCV001464809 RCV003343708

NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)

SNV
Germline

Chr2:178570642

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1990042

rs_192468365

10 SubmittersRCV000214060 RCV000277330 RCV000312104 RCV000325463 RCV000474321 RCV000369619 RCV000400221 RCV000731447 RCV002338688 RCV003448289

NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)

SNV
Germline

Chr2:178570768

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990062

rs_376821762

4 SubmittersRCV000220355 RCV000725756

NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)

SNV
Germline

Chr2:178571151

Conflicting classifications of pathogenicity

not specified
6 conditions
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990119

rs_531281558

4 SubmittersRCV000220591 RCV002503865 RCV002338687 RCV005632333

NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)

SNV
Germline

Chr2:178571171

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990121

rs_754043680

5 SubmittersRCV000215599 RCV001128967 RCV001128968 RCV001128969 RCV001128970 RCV001135952 RCV001495271 RCV002338674 RCV006649986

NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)

SNV
Germline

Chr2:178571288

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990138

rs_371884545

4 SubmittersRCV000221340 RCV000727310 RCV001085926 RCV002338673

NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)

SNV
Germline

Chr2:178571583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990181

rs_573415766

7 SubmittersRCV000216300 RCV000725210 RCV001086254 RCV004541343

NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)

SNV
Germline

Chr2:178572362

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1990316

rs_201380749

8 SubmittersRCV000217711 RCV000643854 RCV001697289 RCV002327085 RCV002503846

NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)

SNV
Germline

Chr2:178573801

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990515

rs_369671334

8 SubmittersRCV000218450 RCV000529114 RCV000727259 RCV000764318 RCV003486776

NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)

SNV
Germline

Chr2:178577603

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991043

rs_200717463

7 SubmittersRCV000218257 RCV000473945 RCV001537831 RCV002327091 RCV004532768

NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)

SNV
Germline

Chr2:178577634

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991046

rs_201567815

5 SubmittersRCV000222805 RCV000540427 RCV001134111 RCV001134113 RCV001134110 RCV001134112 RCV001134114 RCV001311236

NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)

SNV
Germline

Chr2:178578066

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991105

rs_371678190

6 SubmittersRCV000220525 RCV000643705 RCV000769970 RCV001697246 RCV002327083

NM_001267550.2(TTN):c.68225-5T>C

SNV
Germline

Chr2:178578720

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991154

rs_758273663

6 SubmittersRCV000216803 RCV001566878 RCV001422351 RCV002321837

NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)

SNV
Germline

Chr2:178578865

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1991176

rs_200493270

6 SubmittersRCV000216817 RCV000537702 RCV000997415 RCV005895026

NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)

SNV
Germline

Chr2:178582197

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991556

rs_199643269

8 SubmittersRCV000215351 RCV000459142 RCV000727313 RCV002354614

NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)

SNV
Germline

Chr2:178583608

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1991683

rs_374858668

9 SubmittersRCV000218631 RCV000462337 RCV001136495 RCV001136496 RCV001136497 RCV001136498 RCV001136499 RCV001705205 RCV002354613 RCV005361241

NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)

SNV
Germline

Chr2:178583863

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991724

rs_746956869

11 SubmittersRCV000215041 RCV000726152 RCV000768961 RCV001079299 RCV002363066 RCV004541335

NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)

SNV
Germline

Chr2:178584378

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991765

rs_368716894

6 SubmittersRCV000222014 RCV000324683 RCV000318684 RCV000376978 RCV000267310 RCV000284705 RCV000731696

NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg)

SNV
Germline

Chr2:178584390

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991768

rs_745497694

3 SubmittersRCV000221890 RCV000728824 RCV001798709

NM_001267550.2(TTN):c.64397-1G>C

SNV
Germline

Chr2:178585348

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10576497

rs_876657668

2 SubmittersRCV000222488 RCV006555690

NM_001267550.2(TTN):c.64094-2A>G

SNV
Germline

Chr2:178586809

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10576498

rs_876657667

3 SubmittersRCV000218778 RCV002519624 RCV004686579

NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)

SNV
Germline

Chr2:178588078

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992104

rs_370687831

13 SubmittersRCV000220189 RCV000643282 RCV000997430 RCV001135380 RCV001170817 RCV001135376 RCV001135377 RCV001135378 RCV001135379 RCV002453768

NM_001267550.2(TTN):c.61224G>A (p.Val20408=)

SNV
Germline

Chr2:178590501

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992390

rs_566188777

11 SubmittersRCV000217874 RCV000459797 RCV001132658 RCV001132657 RCV001132659 RCV001131640 RCV001132660 RCV001171293 RCV001726051 RCV002453767

NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)

SNV
Germline

Chr2:178591201

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1992479

rs_771358314

6 SubmittersRCV000223279 RCV000462468 RCV000734811 RCV001131880 RCV001131882 RCV001131881 RCV001131883 RCV001131884 RCV003335235

NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)

SNV
Germline

Chr2:178598763

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993151

rs_377000174

14 SubmittersRCV000213289 RCV000548016 RCV000726732 RCV000768979 RCV002433937 RCV004734868

NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)

SNV
Germline

Chr2:178599260

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993236

rs_375000725

8 SubmittersRCV000220952 RCV000544463 RCV000727258 RCV000764324 RCV003486775

NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)

SNV
Germline

Chr2:178604170

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993619

rs_766074604

7 SubmittersRCV000216545 RCV000471303 RCV000852841 RCV002433936 RCV003137813 RCV004532766

NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)

SNV
Germline

Chr2:178605068

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993698

rs_201623791

8 SubmittersRCV000218519 RCV000473378 RCV000834830 RCV001132764 RCV001132766 RCV001132765 RCV001132767 RCV001132768 RCV002450637

NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)

SNV
Germline

Chr2:178605073

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993699

rs_182445366

7 SubmittersRCV000215463 RCV000725196 RCV002429078

NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)

SNV
Germline

Chr2:178607860

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993903

rs_375944265

5 SubmittersRCV000214437 RCV001697291 RCV002429077

NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)

SNV
Germline

Chr2:178607934

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993917

rs_371538664

7 SubmittersRCV000222321 RCV000550187 RCV000997454 RCV001136502 RCV001136503 RCV001136504 RCV001136505 RCV001136506 RCV002429076

NM_001267550.2(TTN):c.52223A>C (p.Lys17408Thr)

SNV
Germline

Chr2:178608788

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA10576516

rs_876658066

2 SubmittersRCV000221242

NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)

SNV
Germline

Chr2:178608812

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994035

rs_773027240

6 SubmittersRCV000218291 RCV000542859 RCV000834516 RCV002429074

NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)

SNV
Germline

Chr2:178609755

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994148

rs_142395261

8 SubmittersRCV000213884 RCV000472424 RCV000997459 RCV002450636

NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)

SNV
Germline

Chr2:178610341

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA10576520

rs_876658064

4 SubmittersRCV000223385 RCV002478776

NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)

SNV
Germline

Chr2:178611471

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994319

rs_377289817

9 SubmittersRCV000216081 RCV000253790 RCV000725245 RCV000852848 RCV001085087

NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)

SNV
Germline

Chr2:178611587

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994330

rs_201302681

4 SubmittersRCV000222383 RCV000245655 RCV000533460 RCV001556216

NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)

SNV
Germline

Chr2:178612963

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994518

rs_72677247

9 SubmittersRCV000213520 RCV000725262 RCV001079373 RCV001133881 RCV001130913 RCV001130914 RCV001130915 RCV001130916 RCV002444859 RCV004541333

NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)

SNV
Germline

Chr2:178613020

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994529

rs_369646977

3 SubmittersRCV000221924 RCV002261010 RCV002427002

NM_001267550.2(TTN):c.49648+13T>A

SNV
Germline

Chr2:178613148

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994555

rs_368996176

5 SubmittersRCV000218302 RCV001135388 RCV001133882 RCV001133883 RCV001135386 RCV001135387 RCV002054956

NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys)

SNV
Germline

Chr2:178614271

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1994670

rs_772152172

2 SubmittersRCV000218703 RCV001135633 RCV001135634 RCV001134133 RCV001135635 RCV001135636

NM_001267550.2(TTN):c.48761-1G>C

SNV
Germline

Chr2:178614754

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA10576521

rs_876657665

1 SubmittersRCV000215023

NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)

SNV
Germline

Chr2:178617972

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995054

rs_374281025

11 SubmittersRCV000214390 RCV000533563 RCV001129198 RCV001129197 RCV001129199 RCV001129200 RCV001129201 RCV001170841 RCV001711997 RCV002415898

NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)

SNV
Germline

Chr2:178619828

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Gastric cancer

Criteria Provided
Conflicting Classifications

CA1995228

rs_371299188

12 SubmittersRCV000217743 RCV000730718 RCV001079797 RCV001170842 RCV002408935 RCV005895025

NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)

SNV
Germline

Chr2:178624546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995587

rs_766391823

7 SubmittersRCV000219774 RCV000733718 RCV001132572 RCV001133480 RCV001133481 RCV001133482 RCV001132571

NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)

SNV
Germline

Chr2:178624687

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995603

rs_543102139

9 SubmittersRCV000216762 RCV000286745 RCV000284481 RCV000341707 RCV000401971 RCV000380150 RCV000534179 RCV001798708 RCV001722171

NM_001267550.2(TTN):c.44282-6G>A

SNV
Germline

Chr2:178629449

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995683

rs_372166634

5 SubmittersRCV000216049 RCV000528801 RCV001697220

NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr)

SNV
Germline

Chr2:178634477

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1996104

rs_72650080

2 SubmittersRCV000223126 RCV005025347

NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile)

SNV
Germline

Chr2:178651744

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1996731

rs_774557269

4 SubmittersRCV000217136 RCV000726852 RCV001129316 RCV001129315 RCV001129317 RCV001129318 RCV001129319

NM_001267550.2(TTN):c.33418+12C>A

SNV
Germline

Chr2:178680242

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998349

rs_199772748

5 SubmittersRCV000217318 RCV001135115 RCV001135114 RCV001135116 RCV001135117 RCV001135118 RCV002057156

NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)

SNV
Germline

Chr2:178681114

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1998392

rs_368777046

6 SubmittersRCV000213570 RCV000529922 RCV000733721 RCV001130797 RCV001130798 RCV001130799 RCV001133756 RCV001133757

NM_001267550.2(TTN):c.33172+4G>A

SNV
Germline

Chr2:178681657

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998438

rs_756475184

3 SubmittersRCV000216928 RCV000733836

NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)

SNV
Germline

Chr2:178682820

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998483

rs_201081803

9 SubmittersRCV000222783 RCV000643051 RCV000725666 RCV001133892 RCV001135399 RCV001135398 RCV001133890 RCV001133891

NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)

SNV
Germline

Chr2:178684346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998558

rs_372124201

5 SubmittersRCV000220756 RCV000726054 RCV001087256

NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)

SNV
Germline

Chr2:178689128

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998765

rs_766003250

4 SubmittersRCV000215814 RCV000463757 RCV003137806

NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)

SNV
Germline

Chr2:178704282

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999241

rs_368531555

2 SubmittersRCV000213936 RCV000730931

NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)

SNV
Germline

Chr2:178707718

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1999505

rs_144025230

5 SubmittersRCV000214281 RCV000769899 RCV000840343 RCV005396702

NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)

SNV
Germline

Chr2:178709641

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999553

rs_771843862

5 SubmittersRCV000220157 RCV001170637 RCV001722170 RCV001840376 RCV001840377 RCV001840378 RCV001840379

NM_001267550.2(TTN):c.26762-9A>G

SNV
Germline

Chr2:178713381

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10576549

rs_200821070

4 SubmittersRCV000214580 RCV000731117 RCV001397462 RCV003150113

NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr)

SNV
Germline

Chr2:178715042

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000068

rs_183499397

3 SubmittersRCV000216439 RCV000337142 RCV000289066 RCV000300964 RCV000346371 RCV000408224 RCV001798707

NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)

SNV
Germline

Chr2:178718101

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000326

rs_549604128

6 SubmittersRCV000259426 RCV000223295 RCV000264760 RCV000317070 RCV000322196 RCV000361848 RCV000764343 RCV000769054 RCV000993405

NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)

SNV
Germline

Chr2:178719234

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000494

rs_749823104

5 SubmittersRCV000221372 RCV000727804 RCV001088472

NM_001267550.2(TTN):c.23939-13C>A

SNV
Germline

Chr2:178719464

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576550

rs_876658045

4 SubmittersRCV000222261 RCV002054961 RCV001711998

NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)

SNV
Germline

Chr2:178720187

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000623

rs_201420077

8 SubmittersRCV000217944 RCV000726095 RCV001135124 RCV001133629 RCV001135125 RCV001135126 RCV001135127

NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)

SNV
Germline

Chr2:178720584

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000686

rs_753546095

3 SubmittersRCV000214186 RCV000725530

NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly)

SNV
Germline

Chr2:178722274

Conflicting classifications of pathogenicity

not specified
6 conditions
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000827

rs_372826489

6 SubmittersRCV000222125 RCV002478774 RCV004734867 RCV004791335

NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)

SNV
Germline

Chr2:178722906

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000910

rs_373223049

4 SubmittersRCV000217550 RCV000727311 RCV001084934

NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)

SNV
Germline

Chr2:178723051

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576553

rs_876658043

5 SubmittersRCV000217872 RCV000318694 RCV000264761 RCV000375614 RCV000261341 RCV000322250 RCV000713989

NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys)

SNV
Germline

Chr2:178723495

Conflicting classifications of pathogenicity

not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000999

rs_747376234

3 SubmittersRCV000218075 RCV004734866

NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)

SNV
Germline

Chr2:178727850

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001344

rs_751902051

4 SubmittersRCV000216993 RCV000725089 RCV001084496

NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly)

SNV
Germline

Chr2:178728984

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA2001482

rs_569003242

3 SubmittersRCV000213813

NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)

SNV
Germline

Chr2:178729692

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001599

rs_377556808

8 SubmittersRCV000222606 RCV000726151 RCV000769069 RCV001085746 RCV004541332

NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala)

SNV
Germline

Chr2:178731800

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001920

rs_570039271

3 SubmittersRCV000216027 RCV001170648

NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn)

SNV
Germline

Chr2:178732218

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001980

rs_779652311

3 SubmittersRCV000223603 RCV005632327

NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)

SNV
Germline

Chr2:178732710

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2002044

rs_760722200

5 SubmittersRCV000216375 RCV000555646 RCV002464144 RCV002494574 RCV003150112

NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)

SNV
Germline

Chr2:178733433

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002141

rs_148551876

9 SubmittersRCV000222088 RCV000560779 RCV001840332 RCV001840334 RCV001840335 RCV001840333 RCV004530318 RCV006731854

NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr)

SNV
Germline

Chr2:178739857

Conflicting classifications of pathogenicity

not specified
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA2002588

rs_763065439

7 SubmittersRCV000221796 RCV000725219 RCV002252058

NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)

SNV
Germline

Chr2:178740686

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002698

rs_201565932

7 SubmittersRCV000213210 RCV000643855 RCV001697191 RCV002450638

NM_001267550.2(TTN):c.12361G>C (p.Asp4121His)

SNV
Germline

Chr2:178740872

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002728

rs_370209978

3 SubmittersRCV000220848 RCV002444866

NM_133379.5(TTN):c.15768T>A (p.His5256Gln)

SNV
Germline

Chr2:178746632

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA2003050

rs_138826545

6 SubmittersRCV000222935 RCV000997559 RCV002494577

NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)

SNV
Germline

Chr2:178747098

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2003124

rs_142973956

4 SubmittersRCV000218686 RCV000997561

NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)

SNV
Germline

Chr2:178773664

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004816

rs_565784637

6 SubmittersRCV000223610 RCV000725301 RCV001078577 RCV001798703 RCV002372223

NM_001267550.2(TTN):c.6508+15T>C

SNV
Germline

Chr2:178775341

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005029

rs_747722195

4 SubmittersRCV000220978 RCV000319679 RCV000354918 RCV000374363 RCV000260057 RCV000277654 RCV001596992 RCV002057158

NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)

SNV
Germline

Chr2:178775444

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005052

rs_777009984

8 SubmittersRCV000214672 RCV000461917 RCV001528592

NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)

SNV
Germline

Chr2:178779001

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005411

rs_145308734

8 SubmittersRCV000221874 RCV000532189 RCV000617303 RCV001697190

NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)

SNV
Germline

Chr2:178782837

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005658

rs_371447978

7 SubmittersRCV000214036 RCV000726627 RCV001089024 RCV002433930

NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)

SNV
Germline

Chr2:178784084

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005744

rs_774924294

3 SubmittersRCV000220139 RCV003137805

NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)

SNV
Germline

Chr2:178786012

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576581

rs_876658047

4 SubmittersRCV000218656 RCV000643227 RCV001560262

NM_001267550.2(TTN):c.1953C>T (p.Ala651=)

SNV
Germline

Chr2:178789483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005930

rs_778742098

5 SubmittersRCV000217779 RCV000878900 RCV001088587 RCV005761985

NM_001267550.2(TTN):c.72C>G (p.Thr24=)

SNV
Germline

Chr2:178804571

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576584

rs_876657615

5 SubmittersRCV000223372 RCV000295394 RCV000326959 RCV000329742 RCV000388983 RCV000355465 RCV001413880 RCV002381738 RCV006435016

NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)

SNV
Germline

Chr2:178528671

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1985004

rs_769369764

4 SubmittersRCV000230970 RCV000828909 RCV001135939 RCV001135941 RCV001135943 RCV001135940 RCV001135942

NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)

SNV
Germline

Chr2:178530571

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985172

rs_145560044

5 SubmittersRCV000308363 RCV001087046 RCV002408961 RCV003150136

NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)

SNV
Germline

Chr2:178530962

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985224

rs_143499441

5 SubmittersRCV000282589 RCV000316931 RCV000339796 RCV000388832 RCV000374683 RCV000842725 RCV001087206 RCV004532863

NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)

SNV
Germline

Chr2:178532600

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985501

rs_79666048

4 SubmittersRCV000227260 RCV001311233

NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)

SNV
Germline

Chr2:178538651

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1986243

rs_142108986

6 SubmittersRCV000232836 RCV000728833 RCV000764301 RCV006650004

NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)

SNV
Germline

Chr2:178539128

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986304

rs_774296358

4 SubmittersRCV000232162 RCV001562026

NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)

SNV
Germline

Chr2:178553165

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987875

rs_748326514

3 SubmittersRCV000234282 RCV001589177 RCV002365187

NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)

SNV
Germline

Chr2:178557087

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10581835

rs_878854428

3 SubmittersRCV000229423 RCV002500774 RCV003147427 RCV003147428 RCV003147423 RCV003147425 RCV003147424 RCV003147426

NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)

SNV
Germline

Chr2:178559409

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988448

rs_377612718

6 SubmittersRCV000231379 RCV000606615 RCV002354648 RCV003137846

NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)

SNV
Germline

Chr2:178559457

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA10581838

rs_745896785

1 SubmittersRCV001379063

NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)

SNV
Germline

Chr2:178563052

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988974

rs_192360370

4 SubmittersRCV000228388 RCV000281514 RCV000306145 RCV000360852 RCV000406496 RCV000407672 RCV001536382 RCV002347880

NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp)

SNV
Germline

Chr2:178565191

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989275

rs_779878975

3 SubmittersRCV000230162 RCV000266392 RCV000270343 RCV000306715 RCV000361378 RCV000376043 RCV000769930

NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)

SNV
Germline

Chr2:178569415

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10581841

rs_767450912

6 SubmittersRCV000230707 RCV001256714 RCV002338719 RCV003225049 RCV004796124

NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)

SNV
Germline

Chr2:178570135

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989970

rs_757343393

7 SubmittersRCV000230035 RCV001697575 RCV002271476 RCV002338718

NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)

SNV
Germline

Chr2:178571369

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990150

rs_371563258

5 SubmittersRCV000246952 RCV000725711 RCV000769942 RCV001088670

NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)

SNV
Germline

Chr2:178574977

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990671

rs_201818722

3 SubmittersRCV000231238 RCV002327125 RCV003137845

NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)

SNV
Germline

Chr2:178576691

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10581850

rs_878854328

4 SubmittersRCV000727253 RCV001379429 RCV003278709

NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)

SNV
Germline

Chr2:178579221

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991233

rs_548223512

10 SubmittersRCV000230848 RCV000250526 RCV000604421 RCV000769971 RCV001131512 RCV001131511 RCV001131513 RCV001131509 RCV001131510 RCV004532867 RCV005641558

NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

SNV
Germline

Chr2:178581939

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991530

rs_183276016

10 SubmittersRCV000226664 RCV000304565 RCV000620279 RCV000765557 RCV000725486

NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)

SNV
Germline

Chr2:178589804

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10581854

rs_878854324

6 SubmittersRCV000229380 RCV001589176 RCV003225936 RCV004599211

NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)

SNV
Germline

Chr2:178592603

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA1992669

rs_202206216

6 SubmittersRCV000227172 RCV001293080 RCV001553137 RCV002444893 RCV005625465

NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe)

SNV
Germline

Chr2:178593684

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1992824

rs_539868284

2 SubmittersRCV000232657 RCV000602664

NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)

SNV
Germline

Chr2:178598609

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA10581861

rs_878854318

1 SubmittersRCV000226895

NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)

SNV
Germline

Chr2:178599025

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993194

rs_375403059

5 SubmittersRCV000233526 RCV001135382 RCV001135381 RCV001135383 RCV001135384 RCV001135385 RCV003137842 RCV003298295

NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)

SNV
Germline

Chr2:178599153

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993218

rs_200544272

3 SubmittersRCV000229617 RCV002433965 RCV003137841

NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)

SNV
Germline

Chr2:178611064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994257

rs_372419267

5 SubmittersRCV000226574 RCV000618429 RCV000764332 RCV001551023

NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)

SNV
Germline

Chr2:178612114

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1994403

rs_747224934

3 SubmittersRCV000234099 RCV002444892 RCV002503899

NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)

SNV
Germline

Chr2:178614499

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994704

rs_201793958

7 SubmittersRCV000230560 RCV000608677 RCV002429106 RCV003137840

NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)

SNV
Germline

Chr2:178614880

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994759

rs_72677242

3 SubmittersRCV000234035 RCV000768999 RCV001549635

NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met)

SNV
Germline

Chr2:178615484

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1994807

rs_771120250

2 SubmittersRCV000231241 RCV001131398 RCV001131395 RCV001131397 RCV001131394 RCV001131396

NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)

SNV
Germline

Chr2:178621935

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995521

rs_762128685

7 SubmittersRCV000227516 RCV000733705 RCV002399818 RCV004734883

NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)

SNV
Germline

Chr2:178632329

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA1995834

rs_374085402

8 SubmittersRCV000229639 RCV000253847 RCV000725708 RCV000769020 RCV001293151 RCV005025387

NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)

SNV
Germline

Chr2:178651531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996692

rs_761974767

5 SubmittersRCV000234577 RCV000831418

NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile)

SNV
Germline

Chr2:178651702

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996724

rs_375956503

3 SubmittersRCV000230588 RCV003137836 RCV003486780

NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)

SNV
Germline

Chr2:178652905

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1996964

rs_192528655

6 SubmittersRCV000239005 RCV000232547 RCV001086491

NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)

SNV
Germline

Chr2:178662539

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1997327

rs_762149243

5 SubmittersRCV000228135 RCV001572813 RCV001727646

NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)

SNV
Germline

Chr2:178663698

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1997454

rs_371580084

8 SubmittersRCV000233263 RCV001529493 RCV001699078 RCV002500772

NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)

SNV
Germline

Chr2:178667239

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Other rare neuromuscular disorders

Criteria Provided
Conflicting Classifications

CA10581879

rs_878854299

8 SubmittersRCV000231913 RCV000663407 RCV000657941 RCV002288919 RCV005025386 RCV006742305

NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)

SNV
Germline

Chr2:178677285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA10581880

rs_534339525

4 SubmittersRCV000231644 RCV000714020 RCV002494636 RCV005404419

NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)

SNV
Germline

Chr2:178678153

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1998171

rs_373083865

5 SubmittersRCV000731205 RCV001078926 RCV002282075 RCV004532864

NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)

SNV
Germline

Chr2:178684013

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998531

rs_370498307

4 SubmittersRCV000232960 RCV000299121

NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala)

SNV
Germline

Chr2:178692022

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998862

rs_768652249

4 SubmittersRCV000228512 RCV001131665 RCV001131666 RCV001132690 RCV001132689 RCV001132691 RCV001762525 RCV006650002

NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)

SNV
Germline

Chr2:178696261

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999029

rs_182720979

4 SubmittersRCV000230693 RCV000728307

NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)

SNV
Germline

Chr2:178702604

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1999195

rs_201635835

7 SubmittersRCV000226894 RCV000730580 RCV001170631 RCV005404418

NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)

SNV
Germline

Chr2:178707738

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999512

rs_371759532

5 SubmittersRCV000228941 RCV000993417 RCV003323465

NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)

SNV
Germline

Chr2:178712827

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999851

rs_369529493

3 SubmittersRCV000230408 RCV000594931 RCV000727265

NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)

SNV
Germline

Chr2:178714039

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999959

rs_772596633

4 SubmittersRCV000230199 RCV000362897 RCV003150137

NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)

SNV
Germline

Chr2:178717164

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1S

Criteria Provided
Conflicting Classifications

CA2000194

rs_371512914

6 SubmittersRCV000234407 RCV000300616 RCV000491329

NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)

SNV
Germline

Chr2:178729704

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001604

rs_200549353

2 SubmittersRCV000231897 RCV000266749 RCV000284204 RCV000324258 RCV000376581 RCV000375404

NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)

SNV
Germline

Chr2:178759159

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004162

rs_755262343

7 SubmittersRCV000229942 RCV000315139 RCV000312425 RCV000369782 RCV000369490 RCV000395221 RCV000727829 RCV001610537 RCV002378981

NM_001267550.2(TTN):c.10115-4G>A

SNV
Germline

Chr2:178759176

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004166

rs_367648529

14 SubmittersRCV000577970 RCV000578025 RCV000578101 RCV000591543 RCV000726929 RCV000619673 RCV001083169 RCV003486779 RCV004541379

NM_001267550.2(TTN):c.9989-5T>G

SNV
Germline

Chr2:178764307

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA10581897

rs_878854434

2 SubmittersRCV001431782 RCV006700566

NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)

SNV
Germline

Chr2:178779328

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005457

rs_368702156

6 SubmittersRCV000430067 RCV000729511 RCV001086151 RCV001798737 RCV002347878

NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)

SNV
Germline

Chr2:178789404

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581905

rs_878854290

4 SubmittersRCV000229056 RCV001509201 RCV002408963

NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)

SNV
Germline

Chr2:178789493

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005931

rs_550441902

5 SubmittersRCV000234261 RCV000844472 RCV003330594

NM_001267550.2(TTN):c.180T>C (p.Asp60=)

SNV
Germline

Chr2:178802253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006399

rs_144750850

6 SubmittersRCV000417639 RCV000727752 RCV001080535 RCV002408962

NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)

SNV
Germline

Chr2:178768724

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA10586349

rs_886037909

1 SubmittersRCV000240645

NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu)

SNV
Germline

Chr2:178527733

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586796

rs_886038722

2 SubmittersRCV000241926 RCV003137856

NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)

SNV
Germline

Chr2:178530878

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985217

rs_370476812

5 SubmittersRCV000251620 RCV000541867 RCV003137855

NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)

SNV
Germline

Chr2:178531672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985333

rs_372312805

7 SubmittersRCV000246183 RCV000725662 RCV001087016 RCV002411126 RCV003486792

NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)

SNV
Germline

Chr2:178533408

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985643

rs_773892755

5 SubmittersRCV000243672 RCV000559465 RCV000725875 RCV002392775

NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)

SNV
Germline

Chr2:178579071

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991212

rs_72646877

8 SubmittersRCV000250102 RCV000725846 RCV001078621 RCV001128849 RCV001135844 RCV001135845 RCV001135843 RCV001135842 RCV002321936

NM_001267550.2(TTN):c.30033A>G (p.Gln10011=)

SNV
Germline

Chr2:178704337

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999249

rs_768497622

2 SubmittersRCV000241795 RCV000643602

NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)

SNV
Germline

Chr2:178713143

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999891

rs_61232800

3 SubmittersRCV000243960 RCV000727827 RCV001086586

NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)

SNV
Germline

Chr2:178532333

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985448

rs_200773170

5 SubmittersRCV000253925 RCV000470102 RCV000727802 RCV003486799

NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)

SNV
Germline

Chr2:178533730

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10587443

rs_886039175

3 SubmittersRCV000254263 RCV000265609 RCV001425929

NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter)

SNV
Germline

Chr2:178537711

Likely pathogenic

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10587446

rs_886038825

3 SubmittersRCV000250744 RCV000786242

NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)

SNV
Germline

Chr2:178541498

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986523

rs_762160311

5 SubmittersRCV000242952 RCV001798751 RCV001561673

NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met)

SNV
Germline

Chr2:178552654

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587452

rs_886038812

2 SubmittersRCV000246691 RCV000786254

NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)

SNV
Germline

Chr2:178552741

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587455

rs_886039117

3 SubmittersRCV000251890 RCV000642979 RCV000827153

NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)

SNV
Germline

Chr2:178554094

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10587456

rs_886038916

8 SubmittersRCV000243308 RCV000434533 RCV000795050 RCV001808719 RCV004786638

NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)

SNV
Germline

Chr2:178557447

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA10587459

rs_886039083

6 SubmittersRCV000246775 RCV001699278 RCV002479984

NM_001267550.2(TTN):c.87671T>C (p.Ile29224Thr)

SNV
Germline

Chr2:178557683

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10587460

rs_878915392

5 SubmittersRCV000249199 RCV000343384 RCV006263811

NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)

SNV
Germline

Chr2:178561156

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988713

rs_749633038

6 SubmittersRCV000245395 RCV000643817 RCV000764307 RCV001092228

NM_001267550.2(TTN):c.79591G>A (p.Glu26531Lys)

SNV
Germline

Chr2:178566541

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989456

rs_772211147

2 SubmittersRCV000249908 RCV000826927

NM_001267550.2(TTN):c.75192T>C (p.Thr25064=)

SNV
Germline

Chr2:178570940

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990090

rs_370480927

6 SubmittersRCV000248976 RCV000601154 RCV000554723 RCV001131507 RCV001131508 RCV001128848 RCV001128847 RCV001131506 RCV001705385

NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)

SNV
Germline

Chr2:178572090

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990272

rs_537071956

10 SubmittersRCV000243281 RCV000643619 RCV000603891 RCV000769944 RCV001132752 RCV001132753 RCV001132754 RCV001132755 RCV001132751 RCV001532417

NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)

SNV
Germline

Chr2:178574764

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990635

rs_775743818

5 SubmittersRCV000246473 RCV001216338 RCV001563433 RCV005404466

NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)

SNV
Germline

Chr2:178572908

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1990401

rs_371034493

5 SubmittersRCV000243926 RCV000313398 RCV001414327 RCV005238794

NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)

SNV
Germline

Chr2:178575872

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990812

rs_72646887

6 SubmittersRCV000246306 RCV000476736 RCV000424783 RCV000725903

NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)

SNV
Germline

Chr2:178580365

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1991386

rs_761241302

6 SubmittersRCV000242115 RCV001571075 RCV001797699 RCV005025399

NM_001267550.2(TTN):c.67637-1G>C

SNV
Germline

Chr2:178579394

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA10587482

rs_886038831

2 SubmittersRCV000245208 RCV001594391

NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)

SNV
Germline

Chr2:178578947

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991186

rs_767279296

3 SubmittersRCV000247862 RCV000997416 RCV004542946

NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)

SNV
Germline

Chr2:178578812

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10587485

rs_886039082

4 SubmittersRCV000247192 RCV000526468 RCV000828869 RCV001798754

NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)

SNV
Germline

Chr2:178590133

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992343

rs_370887455

7 SubmittersRCV000242541 RCV000643435 RCV000596820 RCV001131515 RCV001131516 RCV001131517 RCV001131514 RCV001128850

NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)

SNV
Germline

Chr2:178589301

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1992230

rs_374472044

9 SubmittersRCV000247177 RCV000726100 RCV001087147 RCV001171289 RCV005404461

NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)

SNV
Germline

Chr2:178589178

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992212

rs_368969893

5 SubmittersRCV000247528 RCV000273812 RCV001086636 RCV005404457

NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)

SNV
Germline

Chr2:178591811

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992564

rs_756091180

5 SubmittersRCV000244956 RCV000642981 RCV000732232

NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)

SNV
Germline

Chr2:178592055

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992597

rs_374914334

5 SubmittersRCV000243863 RCV000457759 RCV000595826

NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)

SNV
Germline

Chr2:178594634

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992970

rs_371422299

6 SubmittersRCV000241668 RCV000475954 RCV000611588 RCV000839331

NM_001267550.2(TTN):c.55659G>A (p.Val18553=)

SNV
Germline

Chr2:178601338

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993416

rs_368450420

10 SubmittersRCV000247264 RCV000421641 RCV000731256 RCV001082213 RCV003486794

NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)

SNV
Germline

Chr2:178605062

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993694

rs_765148928

5 SubmittersRCV000246090 RCV000543552 RCV001508475

NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)

SNV
Germline

Chr2:178604013

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA10587495

rs_886038866

3 SubmittersRCV000252902 RCV002479977 RCV005404462

NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)

SNV
Germline

Chr2:178604729

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993649

rs_749248039

4 SubmittersRCV000247239 RCV000591291 RCV001080048

NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)

SNV
Germline

Chr2:178602547

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993563

rs_200410212

9 SubmittersRCV000253274 RCV000273077 RCV000274079 RCV000333847 RCV000328156 RCV000363491 RCV000608203 RCV000730063 RCV001087668

NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)

SNV
Germline

Chr2:178609258

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994068

rs_565423253

3 SubmittersRCV000248802 RCV000643704 RCV003137865

NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)

SNV
Germline

Chr2:178608694

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994020

rs_370450339

9 SubmittersRCV000246418 RCV000728842 RCV000614907 RCV001083135

NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)

SNV
Germline

Chr2:178613888

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994607

rs_749308557

6 SubmittersRCV000243596 RCV000595855 RCV001079165 RCV001134001 RCV001131042 RCV001133998 RCV001133999 RCV001134000

NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)

SNV
Germline

Chr2:178614687

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994739

rs_759916327

2 SubmittersRCV000243899 RCV001541311

NM_001267550.2(TTN):c.51122A>G (p.Asn17041Ser)

SNV
Germline

Chr2:178611007

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587500

rs_774659339

2 SubmittersRCV000252837 RCV003884440

NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)

SNV
Germline

Chr2:178615650

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
TTN-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1994828

rs_186497293

11 SubmittersRCV000242454 RCV000466950 RCV000598396 RCV001722376 RCV004542951 RCV005625489

NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)

SNV
Germline

Chr2:178617857

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
TTN-related disorder
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1995041

rs_751746401

9 SubmittersRCV000250497 RCV000464828 RCV001798759 RCV002223202 RCV006452548 RCV006554509 RCV005250043 RCV006452549

NM_001267550.2(TTN):c.47217C>T (p.Gly15739=)

SNV
Germline

Chr2:178618241

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995103

rs_373305832

2 SubmittersRCV000249505 RCV000338584

NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)

SNV
Germline

Chr2:178630312

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995718

rs_373298007

8 SubmittersRCV000250405 RCV000868062 RCV001133754 RCV001133755 RCV001135244 RCV001133753 RCV001133752 RCV001705387 RCV003114434 RCV004542940

NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)

SNV
Germline

Chr2:178631212

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995797

rs_755492644

4 SubmittersRCV000251747 RCV000726164 RCV001080793

NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys)

SNV
Germline

Chr2:178620862

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995376

rs_776190494

2 SubmittersRCV000245970 RCV000298084

NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)

SNV
Germline

Chr2:178641293

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1996443

rs_775954427

11 SubmittersRCV000242866 RCV000378788 RCV000725863 RCV000770043 RCV001086023 RCV001132685 RCV001132681 RCV001132683 RCV001132682 RCV001132684

NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)

SNV
Germline

Chr2:178629350

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995663

rs_747654057

4 SubmittersRCV000252768 RCV000532012 RCV001547440

NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)

SNV
Germline

Chr2:178631062

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995783

rs_201390600

7 SubmittersRCV000244515 RCV000463022 RCV000598397 RCV005431575

NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn)

SNV
Germline

Chr2:178704512

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999279

rs_376644553

3 SubmittersRCV000244104 RCV001589299

NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)

SNV
Germline

Chr2:178711181

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999665

rs_776487201

4 SubmittersRCV000247051 RCV000603948 RCV001406345

NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)

SNV
Germline

Chr2:178635621

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1996218

rs_756282138

6 SubmittersRCV000250887 RCV000592811 RCV001131401 RCV001128765 RCV001089323 RCV001128764 RCV001131402 RCV001128766

NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)

SNV
Germline

Chr2:178698884

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999049

rs_780073797

2 SubmittersRCV000250717 RCV000270645

NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)

SNV
Germline

Chr2:178642238

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996462

rs_371178429

5 SubmittersRCV000244327 RCV000443736 RCV000726505

NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)

SNV
Germline

Chr2:178715070

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000074

rs_377074955

7 SubmittersRCV000249513 RCV000560527 RCV001699276

NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)

SNV
Germline

Chr2:178730105

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2001646

rs_370109572

8 SubmittersRCV000253962 RCV000725817 RCV001798749 RCV006452541

NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)

SNV
Germline

Chr2:178715249

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2000097

rs_144587343

6 SubmittersRCV000247665 RCV000546610 RCV001711762 RCV004734899 RCV005404459

NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)

SNV
Germline

Chr2:178731582

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001886

rs_200984007

5 SubmittersRCV000252653 RCV000385148 RCV001460333 RCV003987478

NM_001267550.2(TTN):c.20397G>A (p.Arg6799=)

SNV
Germline

Chr2:178725925

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001218

rs_376573256

5 SubmittersRCV000251096 RCV000864849 RCV001170091 RCV001129215 RCV001129216 RCV001129217 RCV001129218 RCV001129219 RCV004597769

NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)

SNV
Germline

Chr2:178733119

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002099

rs_267599069

4 SubmittersRCV000243567 RCV000524586 RCV000591889 RCV004535216

NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)

SNV
Germline

Chr2:178729436

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2001551

rs_201395913

6 SubmittersRCV000253549 RCV000726735 RCV001087738 RCV005418036

NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)

SNV
Germline

Chr2:178741274

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002783

rs_551387805

5 SubmittersRCV000252473 RCV000546848 RCV000615733 RCV004734908 RCV006436715

NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)

SNV
Germline

Chr2:178766572

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004300

rs_139992576

10 SubmittersRCV000251789 RCV000541705 RCV000727950 RCV001133400 RCV001133399 RCV001133396 RCV001133397 RCV001133398 RCV003479083 RCV004535220

NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)

SNV
Germline

Chr2:178771370

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004707

rs_201837864

11 SubmittersRCV000253336 RCV000429305 RCV000727155 RCV001084325 RCV004542952

NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val)

SNV
Germline

Chr2:178735807

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002369

rs_373683445

4 SubmittersRCV000249569 RCV001546129 RCV005895411

NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)

SNV
Germline

Chr2:178774444

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004958

rs_145649088

7 SubmittersRCV000247303 RCV000457380 RCV000770126 RCV000726728

NM_001267550.2(TTN):c.2760C>T (p.His920=)

SNV
Germline

Chr2:178784085

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005745

rs_138788406

5 SubmittersRCV000251139 RCV000727430 RCV001081643

NM_001267550.2(TTN):c.204C>T (p.Pro68=)

SNV
Germline

Chr2:178802229

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2006393

rs_201089861

11 SubmittersRCV000244651 RCV000500853 RCV000732241 RCV001080260 RCV003486795 RCV004535219

NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr)

SNV
Germline

Chr2:178784216

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587521

rs_751640052

3 SubmittersRCV000247585 RCV000262070 RCV000725323

NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)

SNV
Germline

Chr2:178784246

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2005779

rs_148631577

6 SubmittersRCV000244623 RCV000725542 RCV001087667 RCV004701351

NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)

SNV
Germline

Chr2:178565095

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10588325

rs_869038795

6 SubmittersRCV000256162 RCV001256713 RCV001265557 RCV001859481 RCV002347971

NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)

SNV
Germline

Chr2:178613870

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10588327

rs_202094100

3 SubmittersRCV000255219 RCV001379833 RCV004764923

NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter)

SNV
Germline

Chr2:178570405

Likely pathogenic

Left ventricular noncompaction 2

No Assertion Criteria Provided

CA349620596

rs_1114167338

1 SubmittersRCV000491875

NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)

SNV
Germline

Chr2:178590043

Likely pathogenic

Dilated cardiomyopathy 1S
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349470213

rs_1114167324

2 SubmittersRCV000491832 RCV001379968

NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)

SNV
Germline

Chr2:178605037

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993689

rs_373815064

8 SubmittersRCV000491413 RCV000831508 RCV002429198

NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)

SNV
Germline

Chr2:178560588

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10602832

rs_886041441

2 SubmittersRCV000267585 RCV001855062

NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter)

SNV
Germline

Chr2:178707543

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10603825

rs_886042115

2 SubmittersRCV000285995 RCV000685602

NM_001267550.2(TTN):c.67348+1G>A

SNV
Germline

Chr2:178579938

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1A
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991336

rs_758279518

8 SubmittersRCV000414246 RCV000821995 RCV001175311 RCV001358693 RCV002374451 RCV003227735 RCV004786649

NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)

SNV
Germline

Chr2:178542284

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986556

rs_781572378

6 SubmittersRCV000396588 RCV000724846 RCV002365294

NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)

SNV
Germline

Chr2:178593177

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10603837

rs_886042123

3 SubmittersRCV000290181 RCV002487182 RCV003765586

NM_001267550.2(TTN):c.15507C>T (p.Thr5169=)

SNV
Germline

Chr2:178733882

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10603838

rs_886042124

2 SubmittersRCV000350810 RCV001424417

NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)

SNV
Germline

Chr2:178597722

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993061

rs_778995340

5 SubmittersRCV000406037 RCV002059075 RCV006342203 RCV005418040

NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)

SNV
Germline

Chr2:178527676

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1984935

rs_766440492

9 SubmittersRCV000337417 RCV000769837 RCV002411146 RCV002487185 RCV006701274

NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)

SNV
Germline

Chr2:178595577

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992998

rs_376930907

3 SubmittersRCV000281089 RCV000642715 RCV003380536

NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)

SNV
Germline

Chr2:178539192

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986314

rs_760917372

7 SubmittersRCV000276620 RCV000282308 RCV000331733 RCV000322337 RCV000373215 RCV000386284 RCV000540534 RCV001170524

NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)

SNV
Germline

Chr2:178710777

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999613

rs_375083775

4 SubmittersRCV000724973 RCV001081926

NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)

SNV
Germline

Chr2:178537187

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986108

rs_201226974

8 SubmittersRCV000380820 RCV001331656 RCV002379111

NM_001267550.2(TTN):c.66160+2T>C

SNV
Germline

Chr2:178582294

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991571

rs_753146898

6 SubmittersRCV000362330 RCV001378662 RCV004678658 RCV005407006 RCV006699251

NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)

SNV
Germline

Chr2:178740846

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002723

rs_199546417

4 SubmittersRCV000260997 RCV001085059 RCV002321947

NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)

SNV
Germline

Chr2:178551220

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987650

rs_374094732

9 SubmittersRCV000363959 RCV000725534 RCV001086719 RCV002365297

NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)

SNV
Germline

Chr2:178733050

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA2002086

rs_72648936

6 SubmittersRCV000321332 RCV000537162 RCV000765585

NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)

SNV
Germline

Chr2:178612850

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994499

rs_367566671

9 SubmittersRCV000370129 RCV000537749 RCV002222469 RCV002222468 RCV002446515

NM_001267550.2(TTN):c.11312-8C>A

SNV
Germline

Chr2:178741929

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002871

rs_374893678

3 SubmittersRCV000271980 RCV005431588

NM_001267550.2(TTN):c.2649C>T (p.Phe883=)

SNV
Germline

Chr2:178784196

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005769

rs_775588479

5 SubmittersRCV000272754 RCV000825844 RCV001503592 RCV002429214

NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)

SNV
Germline

Chr2:178689567

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1998815

rs_182934463

6 SubmittersRCV000725004 RCV001087505 RCV003235171

NM_001267550.2(TTN):c.72723C>G (p.Val24241=)

SNV
Germline

Chr2:178573409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990462

rs_372701206

10 SubmittersRCV000269082 RCV000725005 RCV001081895 RCV002338822

NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)

SNV
Germline

Chr2:178729379

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001540

rs_750180579

3 SubmittersRCV000315068 RCV000725009 RCV001461768

NM_001267550.2(TTN):c.21417T>C (p.Phe7139=)

SNV
Germline

Chr2:178723683

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604032

rs_886042283

2 SubmittersRCV000268437 RCV001088892

NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)

SNV
Germline

Chr2:178565250

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989287

rs_749194310

6 SubmittersRCV000261531 RCV000265016 RCV000297529 RCV000304573 RCV000301478 RCV000356308 RCV000526427 RCV001798768 RCV002347988

NM_001267550.2(TTN):c.23094G>C (p.Val7698=)

SNV
Germline

Chr2:178720925

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604045

rs_886042288

2 SubmittersRCV000386097 RCV002521874

NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)

SNV
Germline

Chr2:178574983

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990672

rs_371818894

6 SubmittersRCV000312655 RCV000560012 RCV001798769 RCV002328761

NM_001267550.2(TTN):c.24792G>A (p.Pro8264=)

SNV
Germline

Chr2:178718214

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000342

rs_767137418

3 SubmittersRCV000349264 RCV001088994 RCV006452553

NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)

SNV
Germline

Chr2:178601894

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1993495

rs_777904054

5 SubmittersRCV000338639 RCV000725024 RCV002059101

NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)

SNV
Germline

Chr2:178564096

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604092

rs_886042331

7 SubmittersRCV000486995 RCV001227214 RCV004017581 RCV005761991 RCV006268706

NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)

SNV
Germline

Chr2:178527188

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604093

rs_368277535

3 SubmittersRCV000725043 RCV001227213

NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys)

SNV
Germline

Chr2:178616834

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994922

rs_758399903

4 SubmittersRCV000304864 RCV000769003 RCV001134525 RCV001134526 RCV001134528 RCV001134527 RCV001134529 RCV002418107

NM_001267550.2(TTN):c.47732T>C (p.Met15911Thr)

SNV
Germline

Chr2:178617353

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1994995

rs_761390938

3 SubmittersRCV000344981 RCV000852851 RCV006452554

NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu)

SNV
Germline

Chr2:178735700

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Distal myopathy

Criteria Provided
Conflicting Classifications

CA2002357

rs_376597173

5 SubmittersRCV000272398 RCV005238823 RCV005621931

NM_001267550.2(TTN):c.98098+3G>A

SNV
Germline

Chr2:178540065

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986444

rs_556524594

7 SubmittersRCV000357207 RCV000468276 RCV000725064 RCV002365300

NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)

SNV
Germline

Chr2:178782908

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005669

rs_140953779

6 SubmittersRCV000336660 RCV000725065 RCV002436098

NM_001267550.2(TTN):c.86601T>C (p.Asp28867=)

SNV
Germline

Chr2:178559531

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604156

rs_886042382

3 SubmittersRCV000286562 RCV005771961 RCV006555758

NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)

SNV
Germline

Chr2:178531241

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985271

rs_747161494

6 SubmittersRCV000308416 RCV000312283 RCV000348047 RCV000354415 RCV000394555 RCV000403199 RCV000643140 RCV003235173

NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)

SNV
Germline

Chr2:178542275

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986555

rs_371645048

9 SubmittersRCV000330674 RCV000539619 RCV001130748 RCV001130749 RCV001130050 RCV001130052 RCV001130051 RCV002365301 RCV003486801

NM_001267550.2(TTN):c.90237C>T (p.His30079=)

SNV
Germline

Chr2:178552663

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987815

rs_756663688

5 SubmittersRCV000342013 RCV001081453 RCV003165726

NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)

SNV
Germline

Chr2:178764801

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10604178

rs_886042397

5 SubmittersRCV000307656 RCV001414599 RCV003165727 RCV005407010

NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn)

SNV
Germline

Chr2:178590370

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992379

rs_375946418

5 SubmittersRCV000397584 RCV005404473

NM_001267550.2(TTN):c.11337C>T (p.Ala3779=)

SNV
Germline

Chr2:178741896

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002869

rs_375603989

2 SubmittersRCV000285427 RCV001472030

NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)

SNV
Germline

Chr2:178702578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999193

rs_762141482

7 SubmittersRCV000338923 RCV000725099 RCV001088764 RCV003150148

NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)

SNV
Germline

Chr2:178733471

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002146

rs_779456916

4 SubmittersRCV000371782 RCV000642964 RCV000725105

NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)

SNV
Germline

Chr2:178570464

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990011

rs_370070176

5 SubmittersRCV000322924 RCV000643874 RCV000725106 RCV002338826

NM_001267550.2(TTN):c.43653T>C (p.His14551=)

SNV
Germline

Chr2:178632241

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995824

rs_768244114

3 SubmittersRCV000290963 RCV001405003 RCV004992147

NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)

SNV
Germline

Chr2:178732888

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604206

rs_772235481

8 SubmittersRCV000312986 RCV000415222 RCV000814903 RCV003319194 RCV003992259

NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)

SNV
Germline

Chr2:178633426

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995991

rs_148528251

6 SubmittersRCV000263333 RCV000552297 RCV001130440 RCV001130441 RCV001130443 RCV001131170 RCV001130442 RCV002401979 RCV003235174

NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)

SNV
Germline

Chr2:178728283

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001379

rs_760007747

6 SubmittersRCV000381097 RCV002265723

NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)

SNV
Germline

Chr2:178607961

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1993920

rs_368820294

12 SubmittersRCV000365473 RCV000539986 RCV000725115 RCV002429216 RCV005025420

NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)

SNV
Germline

Chr2:178786000

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005875

rs_566299753

3 SubmittersRCV000320686 RCV001087590

NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)

SNV
Germline

Chr2:178593367

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1992767

rs_199933004

4 SubmittersRCV000402713 RCV001078694 RCV001133278 RCV001133279 RCV001133280 RCV001133281 RCV001133277

NM_001267550.2(TTN):c.43905A>C (p.Ala14635=)

SNV
Germline

Chr2:178631143

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604258

rs_886042449

3 SubmittersRCV000353060 RCV003765596 RCV005761993

NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)

SNV
Germline

Chr2:178729696

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001602

rs_200359082

3 SubmittersRCV000288186

NM_001267550.2(TTN):c.73102G>T (p.Asp24368Tyr)

SNV
Germline

Chr2:178573030

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10604288

rs_886042474

2 SubmittersRCV000296641 RCV006650045

NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)

SNV
Germline

Chr2:178739184

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002489

rs_370208081

5 SubmittersRCV000713969 RCV000619237 RCV001401383

NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)

SNV
Germline

Chr2:178725412

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001156

rs_200866883

10 SubmittersRCV000270267 RCV000527307 RCV000725143 RCV001131793 RCV001131794 RCV001131795 RCV001131797 RCV001131796

NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)

SNV
Germline

Chr2:178732584

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002027

rs_377042940

7 SubmittersRCV000725150 RCV001085118

NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)

SNV
Germline

Chr2:178565540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989324

rs_769223218

3 SubmittersRCV000359485 RCV001474167 RCV004021120

NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)

SNV
Germline

Chr2:178727697

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001316

rs_371495674

8 SubmittersRCV000264814 RCV000725151 RCV001504953

NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)

SNV
Germline

Chr2:178767782

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2004336

rs_146572907

10 SubmittersRCV000338901 RCV000535764 RCV001293221 RCV001815380 RCV002374458 RCV006605260

NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)

SNV
Germline

Chr2:178707596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999498

rs_370903846

5 SubmittersRCV000311992 RCV000725166 RCV001088735 RCV004543014

NM_001267550.2(TTN):c.40788A>G (p.Glu13596=)

SNV
Germline

Chr2:178639787

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604332

rs_886042511

2 SubmittersRCV000283431

NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)

SNV
Germline

Chr2:178607546

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1993850

rs_373316165

8 SubmittersRCV000725173 RCV001088861 RCV001132955 RCV001132956 RCV001132958 RCV001132957 RCV001132959 RCV002436099 RCV004543015 RCV004782338

NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly)

SNV
Germline

Chr2:178594188

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604374

rs_886042539

2 SubmittersRCV000314977

NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)

SNV
Germline

Chr2:178603969

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1993584

rs_375141729

6 SubmittersRCV000267586 RCV000547837 RCV005404474

NM_001267550.2(TTN):c.31846+5A>G

SNV
Germline

Chr2:178689808

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998829

rs_760788961

2 SubmittersRCV000271945 RCV000725200

NM_001267550.2(TTN):c.30282T>G (p.Ser10094=)

SNV
Germline

Chr2:178702605

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604379

rs_886042543

2 SubmittersRCV000321740 RCV001493033

NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)

SNV
Germline

Chr2:178731486

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001865

rs_748617936

3 SubmittersRCV000396640 RCV003235175

NM_001267550.2(TTN):c.42099A>G (p.Glu14033=)

SNV
Germline

Chr2:178634775

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996146

rs_759297459

2 SubmittersRCV000302914 RCV005761994

NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)

SNV
Germline

Chr2:178536993

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986079

rs_770089807

4 SubmittersRCV000340848 RCV000725250 RCV001428231 RCV002379118

NM_001267550.2(TTN):c.103958G>A (p.Arg34653His)

SNV
Germline

Chr2:178532657

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1985512

rs_72629786

5 SubmittersRCV000356559 RCV004813087 RCV005404475

NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)

SNV
Germline

Chr2:178566249

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989421

rs_201091376

7 SubmittersRCV000312083 RCV000725251 RCV001088389 RCV002338833 RCV004543020

NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)

SNV
Germline

Chr2:178720410

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000657

rs_745476881

3 SubmittersRCV000369233 RCV002518877

NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)

SNV
Germline

Chr2:178565466

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1989318

rs_571328201

9 SubmittersRCV000365750 RCV000466790 RCV000620064 RCV002502106 RCV005431591

NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)

SNV
Germline

Chr2:178575995

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604458

rs_770349910

3 SubmittersRCV000345369 RCV001436663 RCV002328765

NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)

SNV
Germline

Chr2:178784234

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005776

rs_72647861

5 SubmittersRCV000392857 RCV000536704

NM_001267550.2(TTN):c.97493-5T>C

SNV
Germline

Chr2:178541589

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604482

rs_886042619

2 SubmittersRCV000330621 RCV003765603

NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)

SNV
Germline

Chr2:178723625

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001018

rs_371267140

6 SubmittersRCV000260504 RCV000558901 RCV005238829

NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)

SNV
Germline

Chr2:178663048

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604489

rs_796478043

4 SubmittersRCV000263993 RCV000458463 RCV000725270

NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)

SNV
Germline

Chr2:178576106

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604493

rs_878983731

3 SubmittersRCV000266059 RCV001461812 RCV002328767

NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)

SNV
Germline

Chr2:178558510

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988403

rs_375565646

10 SubmittersRCV000269714 RCV000725274 RCV001085091 RCV001129400 RCV001132114 RCV001129401 RCV001129402 RCV001129403 RCV002227467 RCV002356373

NM_001267550.2(TTN):c.49465A>C (p.Arg16489=)

SNV
Germline

Chr2:178613818

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994594

rs_748959693

2 SubmittersRCV000375540 RCV000643722

NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)

SNV
Germline

Chr2:178568064

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989666

rs_572384303

8 SubmittersRCV000316374 RCV000643246 RCV000768916 RCV001707610 RCV001293049 RCV002347994 RCV004535298

NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)

SNV
Germline

Chr2:178607095

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993799

rs_373526624

9 SubmittersRCV000282260 RCV000302673 RCV000318089 RCV000337689 RCV000336131 RCV000394206 RCV000619450 RCV000863478 RCV001798770 RCV005243181

NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)

SNV
Germline

Chr2:178621908

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995518

rs_369992659

5 SubmittersRCV000284858 RCV000458786 RCV002401985

NM_001267550.2(TTN):c.44790G>A (p.Lys14930=)

SNV
Germline

Chr2:178624490

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604538

rs_886042667

2 SubmittersRCV000309362 RCV001457824

NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)

SNV
Germline

Chr2:178533502

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604539

rs_886042668

3 SubmittersRCV000267629 RCV001424789 RCV004992150

NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)

SNV
Germline

Chr2:178730979

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001772

rs_561557554

8 SubmittersRCV000305679 RCV001086493 RCV001170643 RCV004535302

NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)

SNV
Germline

Chr2:178539914

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986420

rs_757402291

3 SubmittersRCV000326357 RCV002059132 RCV004992151

NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)

SNV
Germline

Chr2:178600885

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993342

rs_183047238

8 SubmittersRCV000264622 RCV000725305 RCV001088673 RCV001170598 RCV002436102

NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter)

SNV
Germline

Chr2:178633574

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604556

rs_886042681

2 SubmittersRCV000309840 RCV003765611

NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)

SNV
Germline

Chr2:178590029

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992331

rs_764777213

7 SubmittersRCV000268735 RCV000313422 RCV000307537 RCV000343013 RCV000370392 RCV000408107 RCV000642943 RCV005895624

NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)

SNV
Germline

Chr2:178584856

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1991838

rs_751009684

4 SubmittersRCV000268933 RCV002347995 RCV001859582

NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)

SNV
Germline

Chr2:178558378

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604574

rs_886042694

3 SubmittersRCV000272245 RCV002059136 RCV002356376

NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)

SNV
Germline

Chr2:178535353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985908

rs_374878689

7 SubmittersRCV000316560 RCV000725318 RCV001083010 RCV001128948 RCV001128949 RCV001128950 RCV001128951 RCV001128952 RCV002379121

NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)

SNV
Germline

Chr2:178573958

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604582

rs_886042700

4 SubmittersRCV000301997 RCV003765612

NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)

SNV
Germline

Chr2:178546795

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987088

rs_202187398

9 SubmittersRCV000392444 RCV000549205 RCV000618447 RCV006688728

NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)

SNV
Germline

Chr2:178542698

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1986618

rs_758534800

6 SubmittersRCV000274124 RCV002365310 RCV002480016 RCV003486802 RCV005418045

NM_001267550.2(TTN):c.68688C>T (p.Val22896=)

SNV
Germline

Chr2:178577738

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604646

rs_886042756

2 SubmittersRCV000353619 RCV005512720

NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)

SNV
Germline

Chr2:178723318

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000967

rs_761223583

6 SubmittersRCV000290753 RCV000469081 RCV000725369

NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)

SNV
Germline

Chr2:178739971

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA2002605

rs_72648922

10 SubmittersRCV000513491 RCV000537307 RCV000617967 RCV000770108 RCV002244732 RCV005404476

NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)

SNV
Germline

Chr2:178530049

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985103

rs_200716018

10 SubmittersRCV000274809 RCV000643584 RCV001131858 RCV001132844 RCV001132845 RCV001132846 RCV001132843 RCV001798771 RCV002418111 RCV003987488 RCV004734927

NM_001267550.2(TTN):c.15497-7T>C

SNV
Germline

Chr2:178733899

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604678

rs_886042782

2 SubmittersRCV000352050 RCV002518905

NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)

SNV
Germline

Chr2:178567761

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989615

rs_778290450

6 SubmittersRCV000292975 RCV000301078 RCV000352547 RCV000362867 RCV000400050 RCV000397609 RCV000643214 RCV001798772 RCV002338838

NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)

SNV
Germline

Chr2:178607462

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993839

rs_202200861

8 SubmittersRCV000291190 RCV000725391 RCV001079869 RCV002429218 RCV003150149 RCV004734928

NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)

SNV
Germline

Chr2:178554128

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988004

rs_371678936

6 SubmittersRCV000283983 RCV000725392 RCV001078767 RCV002356378 RCV003486803

NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)

SNV
Germline

Chr2:178531130

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604692

rs_886042795

3 SubmittersRCV000579111 RCV001377585

NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)

SNV
Germline

Chr2:178768099

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604694

rs_780706937

3 SubmittersRCV000312175 RCV001859593

NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)

SNV
Germline

Chr2:178536452

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986047

rs_374876608

5 SubmittersRCV000396330 RCV000475977 RCV002379125

NM_001267550.2(TTN):c.8902+1G>A

SNV
Germline

Chr2:178769678

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004508

rs_770392096

6 SubmittersRCV000291900 RCV002374461 RCV002518919 RCV005238834

NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)

SNV
Germline

Chr2:178563151

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988990

rs_201422612

8 SubmittersRCV000285473 RCV000337312 RCV000379804 RCV000339356 RCV000345217 RCV000391200 RCV000642902 RCV002347997 RCV005625503

NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp)

SNV
Germline

Chr2:178732231

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001983

rs_376598696

2 SubmittersRCV000725428

NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp)

SNV
Germline

Chr2:178614087

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1994638

rs_767768313

4 SubmittersRCV000317246 RCV001130437 RCV001130438 RCV001130439 RCV001135516 RCV001135517 RCV005051770

NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)

SNV
Germline

Chr2:178570605

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1990033

rs_375693396

10 SubmittersRCV000294438 RCV000459157 RCV000618051 RCV000764316 RCV003235176

NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)

SNV
Germline

Chr2:178546728

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604814

rs_886042885

5 SubmittersRCV000339664 RCV000466365 RCV002365312

NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)

SNV
Germline

Chr2:178553380

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987897

rs_746569192

7 SubmittersRCV000326060 RCV001089009 RCV001131264 RCV001131265 RCV001131266 RCV001131267 RCV001131268 RCV002365313 RCV006701280

NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)

SNV
Germline

Chr2:178650168

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1996599

rs_373429851

8 SubmittersRCV000344919 RCV001081063 RCV001131778 RCV001131780 RCV001131779 RCV001131781 RCV001131782 RCV001723871

NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)

SNV
Germline

Chr2:178636165

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996272

rs_749356221

5 SubmittersRCV000295285 RCV000542671 RCV003165739

NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)

SNV
Germline

Chr2:178733371

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604970

rs_886042995

7 SubmittersRCV000460394 RCV000725560 RCV001330278

NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)

SNV
Germline

Chr2:178589763

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992289

rs_369710636

3 SubmittersRCV000275195 RCV001418359 RCV004992156

NM_001267550.2(TTN):c.732C>T (p.Ala244=)

SNV
Germline

Chr2:178799669

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006233

rs_761859812

7 SubmittersRCV000295315 RCV000725564 RCV001134419 RCV001134421 RCV001134420 RCV001134422 RCV001135889 RCV001506599 RCV002379130

NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)

SNV
Germline

Chr2:178563593

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989057

rs_775673876

4 SubmittersRCV000296965 RCV000703360 RCV002347998

NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)

SNV
Germline

Chr2:178630922

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995765

rs_369709751

4 SubmittersRCV000338270 RCV000539417 RCV000725703

NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)

SNV
Germline

Chr2:178776125

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA10605295

rs_530291008

6 SubmittersRCV000259591 RCV001079023 RCV001526958 RCV002348002 RCV004535356

NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)

SNV
Germline

Chr2:178728147

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001365

rs_372654116

7 SubmittersRCV000273020 RCV001699281 RCV002059188

NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)

SNV
Germline

Chr2:178532534

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605328

rs_886043279

2 SubmittersRCV000278562 RCV003765635

NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)

SNV
Germline

Chr2:178607503

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993845

rs_767559716

5 SubmittersRCV000349965 RCV001421943 RCV004021196 RCV005238844

NM_001267550.2(TTN):c.48612C>T (p.Ala16204=)

SNV
Germline

Chr2:178615333

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605401

rs_886043341

2 SubmittersRCV000397849 RCV002519215

NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)

SNV
Germline

Chr2:178530763

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985196

rs_776786546

4 SubmittersRCV000263648 RCV001470583 RCV002411156

NM_001267550.2(TTN):c.43748-7C>T

SNV
Germline

Chr2:178631307

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995807

rs_771927358

3 SubmittersRCV000339520 RCV000725842 RCV001403646

NM_001267550.2(TTN):c.18468C>T (p.Phe6156=)

SNV
Germline

Chr2:178729785

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605482

rs_886043405

2 SubmittersRCV000374274 RCV002519234

NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)

SNV
Germline

Chr2:178733017

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2002079

rs_371501460

5 SubmittersRCV000282104 RCV001170652 RCV001399638 RCV004701381

NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)

SNV
Germline

Chr2:178531975

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985388

rs_373134178

4 SubmittersRCV000725866 RCV001084855 RCV002401995

NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter)

SNV
Germline

Chr2:178722872

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605518

rs_886043434

2 SubmittersRCV000288802 RCV001300749

NM_001267550.2(TTN):c.66174C>T (p.Arg22058=)

SNV
Germline

Chr2:178582195

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605550

rs_886043463

2 SubmittersRCV000274801 RCV005222871

NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)

SNV
Germline

Chr2:178531525

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1985309

rs_72629789

9 SubmittersRCV000725920 RCV001085722 RCV001798773 RCV002411159 RCV004535376 RCV006268711

NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)

SNV
Germline

Chr2:178530858

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985216

rs_373655492

8 SubmittersRCV000267874 RCV000266472 RCV000306527 RCV000303178 RCV000338409 RCV000360232 RCV000642963 RCV002411161

NM_001267550.2(TTN):c.97908G>A (p.Leu32636=)

SNV
Germline

Chr2:178540258

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605743

rs_767660102

2 SubmittersRCV000292537 RCV006555785

NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)

SNV
Germline

Chr2:178567749

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989612

rs_757957389

4 SubmittersRCV000307815 RCV001358751 RCV002338849

NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)

SNV
Germline

Chr2:178531433

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985297

rs_762136167

4 SubmittersRCV000366721 RCV002411164

NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)

SNV
Germline

Chr2:178534054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985735

rs_375625664

10 SubmittersRCV000313155 RCV000726013 RCV001086233 RCV001798774 RCV002392808 RCV004535384

NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)

SNV
Germline

Chr2:178533562

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985663

rs_3731753

8 SubmittersRCV000287646 RCV000305887 RCV000345009 RCV000356141 RCV000384295 RCV000403994 RCV000470403 RCV000621799 RCV001531498

NM_001267550.2(TTN):c.54190+1G>A

SNV
Germline

Chr2:178604986

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1993679

rs_756339648

5 SubmittersRCV000292374 RCV001047350 RCV002509352 RCV005298475

NM_001267550.2(TTN):c.94533C>A (p.Gly31511=)

SNV
Germline

Chr2:178546895

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987104

rs_755850773

3 SubmittersRCV000301018 RCV001448280 RCV005761996

NM_001267550.2(TTN):c.15345T>A (p.Ile5115=)

SNV
Germline

Chr2:178734479

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605830

rs_878891236

2 SubmittersRCV000310448 RCV001434865

NM_001267550.2(TTN):c.69045G>A (p.Ala23015=)

SNV
Germline

Chr2:178577290

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990998

rs_759122929

3 SubmittersRCV000389875 RCV001398737 RCV004678663

NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)

SNV
Germline

Chr2:178537625

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986167

rs_777730098

6 SubmittersRCV000301709 RCV001085923 RCV003165754 RCV004535392

NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)

SNV
Germline

Chr2:178731793

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001918

rs_750996600

4 SubmittersRCV000726067 RCV001088461

NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)

SNV
Germline

Chr2:178802206

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2006387

rs_138750421

7 SubmittersRCV000325596 RCV000621535 RCV001137831 RCV001137832 RCV001137833 RCV001137834 RCV001137835

NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)

SNV
Germline

Chr2:178715754

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000162

rs_201945791

6 SubmittersRCV000382422 RCV001129214 RCV001131908 RCV001131909 RCV001131910 RCV001131911

NM_001267550.2(TTN):c.20814C>T (p.Asn6938=)

SNV
Germline

Chr2:178725390

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605929

rs_886043772

2 SubmittersRCV000259667 RCV003765653

NM_001267550.2(TTN):c.93929G>T (p.Gly31310Val)

SNV
Germline

Chr2:178547697

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10605934

rs_886043776

2 SubmittersRCV000332920 RCV003486806

NM_001267550.2(TTN):c.50865A>T (p.Pro16955=)

SNV
Germline

Chr2:178611264

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994285

rs_754038742

2 SubmittersRCV000320899 RCV001417332

NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)

SNV
Germline

Chr2:178576148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990851

rs_56052239

7 SubmittersRCV000295432 RCV000726115 RCV002059232 RCV002328786

NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)

SNV
Germline

Chr2:178530861

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10606117

rs_886043924

7 SubmittersRCV000432472 RCV002519305 RCV003165761 RCV004017589 RCV005051771

NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)

SNV
Germline

Chr2:178598767

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993152

rs_370998052

5 SubmittersRCV000260611 RCV001083781 RCV001130202 RCV001135238 RCV001135235 RCV001135236 RCV001135237 RCV002436123

NM_001267550.2(TTN):c.28785C>T (p.His9595=)

SNV
Germline

Chr2:178707782

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606120

rs_773200956

2 SubmittersRCV000374874 RCV003765658

NM_001267550.2(TTN):c.7524T>C (p.His2508=)

SNV
Germline

Chr2:178773532

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004797

rs_2291307

6 SubmittersRCV000726199 RCV001130366 RCV001131077 RCV001131076 RCV001131078 RCV001131075 RCV001437139 RCV002222478 RCV002379145

NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)

SNV
Germline

Chr2:178712330

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999779

rs_72648995

5 SubmittersRCV000386127 RCV000533698

NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)

SNV
Germline

Chr2:178620850

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995375

rs_72677226

7 SubmittersRCV000555954 RCV000726219 RCV005418053

NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)

SNV
Germline

Chr2:178617456

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10606226

rs_886044009

2 SubmittersRCV000393926 RCV000704790

NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)

SNV
Germline

Chr2:178766474

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606293

rs_757836789

6 SubmittersRCV000822916 RCV000726264 RCV001787095 RCV002446529 RCV006261744

NM_001267550.2(TTN):c.28200C>T (p.Asp9400=)

SNV
Germline

Chr2:178710897

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606319

rs_886044076

2 SubmittersRCV000293470 RCV006555791

NM_001267550.2(TTN):c.21069A>G (p.Gln7023=)

SNV
Germline

Chr2:178724306

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606320

rs_886044077

2 SubmittersRCV000332174 RCV005209500

NM_001267550.2(TTN):c.60993A>G (p.Arg20331=)

SNV
Germline

Chr2:178590732

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606328

rs_886044085

2 SubmittersRCV000300548 RCV006555792

NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)

SNV
Germline

Chr2:178598839

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993170

rs_370619063

9 SubmittersRCV000272727 RCV000277798 RCV000306684 RCV000341744 RCV000364990 RCV000402212 RCV001086859 RCV001170375 RCV002229853 RCV004021270

NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)

SNV
Germline

Chr2:178601494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606446

rs_879239475

3 SubmittersRCV000264027 RCV000726327 RCV003765665

NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)

SNV
Germline

Chr2:178568225

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989693

rs_375903820

7 SubmittersRCV000297549 RCV000726335 RCV001088758 RCV002348021 RCV003486808

NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)

SNV
Germline

Chr2:178561944

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988812

rs_570847832

4 SubmittersRCV000381416 RCV000473493 RCV003486809

NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe)

SNV
Germline

Chr2:178592778

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992686

rs_555577161

2 SubmittersRCV000276322 RCV000270975 RCV000289406 RCV000326003 RCV000331417 RCV000365549

NM_001267550.2(TTN):c.35287C>T (p.Arg11763Ter)

SNV
Germline

Chr2:178671111

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606481

rs_886044207

3 SubmittersRCV000293912 RCV003150154 RCV005213256

NM_001267550.2(TTN):c.34734A>G (p.Val11578=)

SNV
Germline

Chr2:178673685

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA10606488

rs_866407525

6 SubmittersRCV000325214 RCV000726345 RCV001085747 RCV003486810 RCV004535432

NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr)

SNV
Germline

Chr2:178731911

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606596

rs_886044306

2 SubmittersRCV000352057

NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)

SNV
Germline

Chr2:178693685

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998924

rs_746912694

4 SubmittersRCV000318766 RCV000726431 RCV001131788 RCV001131790 RCV001131787 RCV001131789 RCV001463504 RCV001132779

NM_001267550.2(TTN):c.21966G>C (p.Pro7322=)

SNV
Germline

Chr2:178722933

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606751

rs_773546767

2 SubmittersRCV000391662 RCV003765680

NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)

SNV
Germline

Chr2:178775021

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004997

rs_755122338

3 SubmittersRCV000342592 RCV001462994 RCV004678666

NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)

SNV
Germline

Chr2:178578835

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991173

rs_727505352

9 SubmittersRCV000339197 RCV000726470 RCV000642960 RCV000852819

NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)

SNV
Germline

Chr2:178537119

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986093

rs_749702063

5 SubmittersRCV000273229 RCV001451526 RCV004021303 RCV005055837

NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)

SNV
Germline

Chr2:178550089

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606781

rs_886044458

5 SubmittersRCV000385383 RCV002271486 RCV001425212 RCV003165776

NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)

SNV
Germline

Chr2:178712115

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999737

rs_373068293

6 SubmittersRCV000286981 RCV000525135 RCV002494895 RCV003486811

NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro)

SNV
Germline

Chr2:178594186

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1992894

rs_545185154

3 SubmittersRCV000259463 RCV000274681 RCV000317014 RCV000356634 RCV000366217 RCV000378536

NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)

SNV
Germline

Chr2:178567760

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606784

rs_886044461

3 SubmittersRCV000308150 RCV001086300 RCV002338862

NM_001267550.2(TTN):c.30224-7T>G

SNV
Germline

Chr2:178702670

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1999205

rs_778458915

6 SubmittersRCV000528702 RCV000726489 RCV004537613 RCV005895894

NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala)

SNV
Germline

Chr2:178733098

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002094

rs_749081117

4 SubmittersRCV000726490 RCV005895895

NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)

SNV
Germline

Chr2:178590244

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992360

rs_374845737

3 SubmittersRCV000379309 RCV002328791

NM_001267550.2(TTN):c.77268A>G (p.Ala25756=)

SNV
Germline

Chr2:178568864

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989798

rs_376372388

2 SubmittersRCV000289492 RCV002338863

NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)

SNV
Germline

Chr2:178706730

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999435

rs_533172128

3 SubmittersRCV000382634

NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)

SNV
Germline

Chr2:178566587

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989461

rs_761713195

6 SubmittersRCV000369148 RCV002059295 RCV002338864

NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter)

SNV
Germline

Chr2:178528546

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606844

rs_886044505

1 SubmittersRCV000398601

NM_001267550.2(TTN):c.42415+7G>A

SNV
Germline

Chr2:178634359

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1996086

rs_772004291

3 SubmittersRCV000264179 RCV001493858 RCV004586670

NM_001267550.2(TTN):c.94794A>G (p.Glu31598=)

SNV
Germline

Chr2:178546634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606863

rs_368885714

3 SubmittersRCV000358221 RCV001396125 RCV006659387

NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)

SNV
Germline

Chr2:178733755

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2002191

rs_377754692

5 SubmittersRCV000323226 RCV002504023 RCV003150156 RCV005404477

NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)

SNV
Germline

Chr2:178614676

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994738

rs_372911542

5 SubmittersRCV000282693 RCV000642954 RCV000764336 RCV003150157

NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)

SNV
Germline

Chr2:178532202

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985430

rs_750519430

8 SubmittersRCV000337217 RCV001377610 RCV006249627 RCV006634852 RCV005502782

NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)

SNV
Germline

Chr2:178617392

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995005

rs_376278449

6 SubmittersRCV000313071 RCV000475193 RCV000765569 RCV001798776 RCV002418137

NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)

SNV
Germline

Chr2:178563073

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988979

rs_200992636

6 SubmittersRCV000307668 RCV000643502 RCV001133979 RCV001133978 RCV001133980 RCV001133981 RCV001133982 RCV001705434 RCV003165779

NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)

SNV
Germline

Chr2:178552568

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987801

rs_368516973

4 SubmittersRCV000304138 RCV000726536 RCV000619523

NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met)

SNV
Germline

Chr2:178589191

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1992216

rs_727505316

4 SubmittersRCV000355324 RCV001134244 RCV001134246 RCV001134243 RCV001134245 RCV001134247 RCV005404478 RCV005396903

NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)

SNV
Germline

Chr2:178768728

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606891

rs_886044544

3 SubmittersRCV000332188 RCV002446534 RCV003765687

NM_001267550.2(TTN):c.*6C>A

SNV
Germline

Chr2:178527006

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1984851

rs_188728343

7 SubmittersRCV000261191 RCV000301130 RCV000311618 RCV000353633 RCV000399616 RCV000435138 RCV001726128

NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)

SNV
Germline

Chr2:178533631

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985672

rs_541125667

10 SubmittersRCV000259921 RCV000298697 RCV000357106 RCV000370182 RCV000603386 RCV000831397 RCV000404855 RCV001429062 RCV005286067

NM_001267550.2(TTN):c.98989+12A>C

SNV
Germline

Chr2:178538934

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986282

rs_72648275

4 SubmittersRCV000271664 RCV000321818 RCV000326695 RCV000361241 RCV000384878 RCV000610500 RCV002057613 RCV004530329

NM_001267550.2(TTN):c.96030A>G (p.Glu32010=)

SNV
Germline

Chr2:178544114

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986824

rs_144101806

3 SubmittersRCV000290273 RCV000289017 RCV000343900 RCV000378771 RCV000384493 RCV002057614 RCV004021785

NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)

SNV
Germline

Chr2:178546040

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986992

rs_752309744

10 SubmittersRCV000292154 RCV000346099 RCV000349691 RCV000384378 RCV000643496 RCV000400307 RCV001729543 RCV002365393 RCV001712058

NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val)

SNV
Germline

Chr2:178552976

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1987854

rs_117097948

1 SubmittersRCV000304317 RCV000309343 RCV000354346 RCV000395131 RCV000395132

NM_001267550.2(TTN):c.86658G>A (p.Glu28886=)

SNV
Germline

Chr2:178559474

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988459

rs_760858743

8 SubmittersRCV000262973 RCV000318136 RCV000312953 RCV000367646 RCV000404886 RCV000436153 RCV000475658 RCV000622020 RCV003736725

NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)

SNV
Germline

Chr2:178560670

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988636

rs_377264123

4 SubmittersRCV000268248 RCV000272440 RCV000304731 RCV000327501 RCV000359506 RCV000538168 RCV002356452 RCV003137943

NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly)

SNV
Germline

Chr2:178561689

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988775

rs_751860205

1 SubmittersRCV000313134 RCV000314119 RCV000344669 RCV000371371 RCV000402968

NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=)

SNV
Germline

Chr2:178561727

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988779

rs_756176112

5 SubmittersRCV000263391 RCV000267015 RCV000324512 RCV000354759 RCV000356251 RCV000613415 RCV001459608 RCV002348076

NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)

SNV
Germline

Chr2:178562851

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
not specified
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1988947

rs_371788070

7 SubmittersRCV000268849 RCV000267737 RCV000322601 RCV000328564 RCV000363314 RCV000554942 RCV001170782 RCV001565800 RCV005431621 RCV006555846

NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser)

SNV
Germline

Chr2:178564915

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989238

rs_542799302

2 SubmittersRCV000287717 RCV000326365 RCV000322724 RCV000357556 RCV000379772 RCV004735477

NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)

SNV
Germline

Chr2:178570938

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1990089

rs_182161195

2 SubmittersRCV000315306 RCV000344514 RCV000365719 RCV000393320 RCV000401598 RCV000862066

NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)

SNV
Germline

Chr2:178572356

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10611618

rs_886055247

2 SubmittersRCV000273551 RCV000319157 RCV000332127 RCV000368108 RCV000371073 RCV003765923

NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg)

SNV
Germline

Chr2:178574299

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990582

rs_553796385

1 SubmittersRCV000280236 RCV000302427 RCV000342223 RCV000372071 RCV000403345

NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser)

SNV
Germline

Chr2:178580607

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1991433

rs_781220405

1 SubmittersRCV000292327 RCV000296488 RCV000349639 RCV000387880 RCV000392847

NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe)

SNV
Germline

Chr2:178586782

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1991949

rs_753245626

1 SubmittersRCV000279668 RCV000280410 RCV000319635 RCV000351056 RCV000400184

NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)

SNV
Germline

Chr2:178588120

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992113

rs_558727238

3 SubmittersRCV000284284 RCV000285178 RCV000339354 RCV000379974 RCV000383293 RCV000830854

NM_001267550.2(TTN):c.62673T>C (p.Asp20891=)

SNV
Germline

Chr2:178589052

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992195

rs_374354363

4 SubmittersRCV000294612 RCV000344847 RCV000349206 RCV000390972 RCV000400717 RCV001455451 RCV000827411 RCV002338925

NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)

SNV
Germline

Chr2:178589714

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992282

rs_770684884

5 SubmittersRCV000283430 RCV000291470 RCV000343002 RCV000377923 RCV000381020 RCV000869098 RCV001731612

NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala)

SNV
Germline

Chr2:178590355

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992378

rs_541930965

3 SubmittersRCV000281500 RCV000293984 RCV000338846 RCV000351260 RCV000386335 RCV001565788 RCV002450899

NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn)

SNV
Germline

Chr2:178591382

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992502

rs_369893671

7 SubmittersRCV000315024 RCV000311908 RCV000368981 RCV000362803 RCV000399596 RCV000993463 RCV005238918

NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)

SNV
Germline

Chr2:178607588

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10611666

rs_373140387

2 SubmittersRCV000265123 RCV000287580 RCV000322690 RCV000379601 RCV000383202 RCV002057621

NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)

SNV
Germline

Chr2:178608357

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993974

rs_886055267

4 SubmittersRCV000287510 RCV000310136 RCV000367112 RCV000390826 RCV000396711 RCV001660689 RCV003486818

NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met)

SNV
Germline

Chr2:178608449

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993989

rs_554368924

3 SubmittersRCV000260068 RCV000317569 RCV000314067 RCV000371115 RCV000396717 RCV002298571 RCV006277799

NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)

SNV
Germline

Chr2:178609896

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994174

rs_768961892

7 SubmittersRCV000286117 RCV000340928 RCV000344314 RCV000383600 RCV000390795 RCV000643212 RCV000602149 RCV001697826

NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr)

SNV
Germline

Chr2:178617401

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995008

rs_768530598

2 SubmittersRCV000269252 RCV000274940 RCV000326679 RCV000327999 RCV000384801 RCV003137952

NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)

SNV
Germline

Chr2:178618750

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995166

rs_190058852

10 SubmittersRCV000264075 RCV000308815 RCV000314013 RCV000358919 RCV000423513 RCV000364052 RCV000643205 RCV001311255 RCV002418196

NM_001267550.2(TTN):c.44691G>A (p.Lys14897=)

SNV
Germline

Chr2:178624589

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995592

rs_755769210

6 SubmittersRCV000299213 RCV000312228 RCV000356404 RCV000392377 RCV000405513 RCV000770037 RCV002510872 RCV001466259 RCV004530331 RCV006342238

NM_001267550.2(TTN):c.40786+3G>A

SNV
Germline

Chr2:178640045

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996387

rs_551963261

3 SubmittersRCV000288909 RCV000290238 RCV000324376 RCV000328989 RCV000377729 RCV000592340 RCV002521347

NM_001267550.2(TTN):c.40701G>A (p.Arg13567=)

SNV
Germline

Chr2:178640563

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996413

rs_750761966

3 SubmittersRCV000292594 RCV000300360 RCV000350922 RCV000349531 RCV000401236 RCV000533453 RCV002379221

NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)

SNV
Germline

Chr2:178652495

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996869

rs_375519815

4 SubmittersRCV000302696 RCV000301451 RCV000356263 RCV000390517 RCV000391962 RCV000441149 RCV000525321

NM_001267550.2(TTN):c.34379-15A>G

SNV
Germline

Chr2:178676010

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998081

rs_764544769

5 SubmittersRCV000297820 RCV000301196 RCV000336367 RCV000401394 RCV000395976 RCV000610712 RCV001699320 RCV002057624

NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)

SNV
Germline

Chr2:178677772

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1998133

rs_147418835

9 SubmittersRCV000259807 RCV000275254 RCV000332773 RCV000371038 RCV000374409 RCV000596218 RCV000538959 RCV000997501 RCV001170393

NM_001267550.2(TTN):c.30682+7T>C

SNV
Germline

Chr2:178701113

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999079

rs_752353097

2 SubmittersRCV000289919 RCV000295967 RCV000348593 RCV000386803 RCV000388417 RCV001490448

NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu)

SNV
Germline

Chr2:178702657

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999202

rs_374075627

4 SubmittersRCV000276929 RCV000311952 RCV000329536 RCV000368944 RCV000369112 RCV001552864 RCV005238919

NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)

SNV
Germline

Chr2:178706557

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1999409

rs_371163094

10 SubmittersRCV000291685 RCV000304696 RCV000344234 RCV000390621 RCV000396317 RCV000470820 RCV000727772 RCV003317195 RCV005027423

NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)

SNV
Germline

Chr2:178731941

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001941

rs_370889765

7 SubmittersRCV000275139 RCV000314970 RCV000309232 RCV000366312 RCV000367396 RCV000476843 RCV000770094 RCV000713978

NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)

SNV
Germline

Chr2:178733120

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002100

rs_376820575

11 SubmittersRCV000270807 RCV000271953 RCV000307254 RCV000377053 RCV000366454 RCV000713976 RCV001080876 RCV001798791 RCV001699321 RCV004544613

NM_001267550.2(TTN):c.15453T>C (p.Asn5151=)

SNV
Germline

Chr2:178734371

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002228

rs_201343844

7 SubmittersRCV000283219 RCV000289153 RCV000346392 RCV000332441 RCV000382374 RCV001170872 RCV001442054 RCV001699322 RCV001726131

NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)

SNV
Germline

Chr2:178734951

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2002308

rs_761666344

6 SubmittersRCV000270838 RCV000315276 RCV000308711 RCV000365791 RCV000363107 RCV000466438 RCV003430844 RCV003486820 RCV004530335 RCV006701349

NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val)

SNV
Germline

Chr2:178775194

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2005016

rs_760798049

1 SubmittersRCV000312966 RCV000348061 RCV000367691 RCV000402905 RCV000404788

NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val)

SNV
Germline

Chr2:178782350

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005593

rs_528216574

4 SubmittersRCV000286362 RCV000341244 RCV000356189 RCV000406964 RCV000406971 RCV003137958 RCV004735481

NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)

SNV
Germline

Chr2:178786080

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005889

rs_761383124

5 SubmittersRCV000279844 RCV000334869 RCV000368679 RCV000407830 RCV000407832 RCV000621293 RCV003137959 RCV005404516

NM_001267550.2(TTN):c.*280A>G

SNV
Germline

Chr2:178526732

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10611997

rs_549242855

1 SubmittersRCV000265278 RCV000308695 RCV000305997 RCV000354877 RCV000358469

NM_001267550.2(TTN):c.*25C>T

SNV
Germline

Chr2:178526987

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1984847

rs_370597649

1 SubmittersRCV000290362 RCV000307898 RCV000347387 RCV000351030 RCV000395233

NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)

SNV
Germline

Chr2:178530718

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10612002

rs_886055219

3 SubmittersRCV000261720 RCV000265122 RCV000300611 RCV000297754 RCV000357728 RCV002521342 RCV003486814

NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)

SNV
Germline

Chr2:178531232

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985269

rs_758458467

6 SubmittersRCV000281757 RCV000321782 RCV000372813 RCV000578001 RCV000577947 RCV000616776 RCV003137937

NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)

SNV
Germline

Chr2:178532338

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985449

rs_377391143

7 SubmittersRCV000303059 RCV000304445 RCV000342916 RCV000355591 RCV000405003 RCV000726673 RCV001082825 RCV002402054 RCV005238917

NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)

SNV
Germline

Chr2:178537143

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986096

rs_775769503

12 SubmittersRCV000273760 RCV000296140 RCV000344102 RCV000331164 RCV000375299 RCV000594505 RCV000621517 RCV003226282

NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)

SNV
Germline

Chr2:178537640

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986170

rs_745708104

8 SubmittersRCV000286171 RCV000291846 RCV000321215 RCV000378182 RCV000407408 RCV000431706 RCV000726780 RCV001087500 RCV001170522 RCV002374562

NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)

SNV
Germline

Chr2:178538675

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1986246

rs_758109676

1 SubmittersRCV000260897 RCV000297178 RCV000300928 RCV000349404 RCV000408203

NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)

SNV
Germline

Chr2:178541360

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986502

rs_569593251

4 SubmittersRCV000265881 RCV000288333 RCV000328035 RCV000358173 RCV000384949 RCV001547700

NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)

SNV
Germline

Chr2:178541553

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986530

rs_755848026

3 SubmittersRCV000276321 RCV000306676 RCV000333703 RCV000363734 RCV000385997 RCV000852487 RCV003137941

NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=)

SNV
Germline

Chr2:178542346

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612019

rs_886055228

2 SubmittersRCV000282995 RCV000307444 RCV000343579 RCV000393755 RCV000400682 RCV002365392

NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)

SNV
Germline

Chr2:178546315

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987030

rs_367549998

4 SubmittersRCV000270064 RCV000273724 RCV000331190 RCV000365869 RCV000369559 RCV000643216 RCV002365394 RCV004530330

NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)

SNV
Germline

Chr2:178549664

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987511

rs_545632095

4 SubmittersRCV000261221 RCV000273979 RCV000301245 RCV000313974 RCV000370975 RCV000727949 RCV001088384 RCV002356450

NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)

SNV
Germline

Chr2:178565228

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1989281

rs_539234338

3 SubmittersRCV000262837 RCV000318137 RCV000351987 RCV000372731 RCV000387307 RCV002348079 RCV002521346

NM_001267550.2(TTN):c.79155G>A (p.Val26385=)

SNV
Germline

Chr2:178566977

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989513

rs_377618488

4 SubmittersRCV000290515 RCV000304219 RCV000342754 RCV000398558 RCV000400755 RCV000643313 RCV001705503 RCV002338919

NM_001267550.2(TTN):c.78654T>C (p.His26218=)

SNV
Germline

Chr2:178567478

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612039

rs_886055244

3 SubmittersRCV000272128 RCV000321296 RCV000329566 RCV000368961 RCV000381870 RCV002057617 RCV002338921

NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)

SNV
Germline

Chr2:178568483

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989736

rs_747430905

3 SubmittersRCV000287862 RCV000296139 RCV000347468 RCV000350957 RCV000397141 RCV001497900 RCV004678681

NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)

SNV
Germline

Chr2:178571530

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990169

rs_72646898

16 SubmittersRCV000276928 RCV000325387 RCV000330878 RCV000469841 RCV000369107 RCV000382277 RCV000512928 RCV001280555 RCV002338923 RCV003150163

NM_001267550.2(TTN):c.71883T>C (p.Val23961=)

SNV
Germline

Chr2:178574249

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990574

rs_368692510

11 SubmittersRCV000277943 RCV000280973 RCV000330736 RCV000388719 RCV000434663 RCV000470162 RCV000387532 RCV001528543 RCV002328852

NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)

SNV
Germline

Chr2:178574339

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1990583

rs_780920316

2 SubmittersRCV000270113 RCV000309910 RCV000313230 RCV000362397 RCV000396370 RCV001495697

NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)

SNV
Germline

Chr2:178575074

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
not specified
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990684

rs_375183437

6 SubmittersRCV000300571 RCV000322831 RCV000353062 RCV000360952 RCV000393233 RCV000611133 RCV000768938 RCV001311959 RCV000643052 RCV002328853

NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)

SNV
Germline

Chr2:178583683

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991693

rs_369255906

6 SubmittersRCV000274078 RCV000277177 RCV000329281 RCV000332269 RCV000368757 RCV000952649 RCV001572142 RCV002356453 RCV005404508

NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp)

SNV
Germline

Chr2:178584383

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991766

rs_371802736

4 SubmittersRCV000278887 RCV000336044 RCV000348974 RCV000399487 RCV000391280 RCV001824307 RCV004767234

NM_001267550.2(TTN):c.65022C>T (p.Asp21674=)

SNV
Germline

Chr2:178584529

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612052

rs_866763453

2 SubmittersRCV000300158 RCV000305892 RCV000339700 RCV000406681 RCV000406729 RCV003765924

NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)

SNV
Germline

Chr2:178589116

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992202

rs_376338324

4 SubmittersRCV000267175 RCV000302699 RCV000309790 RCV000365491 RCV000390976 RCV001564075

NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=)

SNV
Germline

Chr2:178594022

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992873

rs_749167827

2 SubmittersRCV000284440 RCV000286798 RCV000341818 RCV000346376 RCV000371877 RCV002323538

NM_001267550.2(TTN):c.56761C>T (p.Leu18921=)

SNV
Germline

Chr2:178598949

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993186

rs_769824680

2 SubmittersRCV000274902 RCV000276033 RCV000318094 RCV000333382 RCV000363749 RCV003298388

NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)

SNV
Germline

Chr2:178618666

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995156

rs_760251812

5 SubmittersRCV000269951 RCV000273542 RCV000314523 RCV000325000 RCV000385186 RCV000842277 RCV001437186 RCV002418195 RCV006650084

NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)

SNV
Germline

Chr2:178620542

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Inborn genetic diseases
Condition: not provided
Cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1995326

rs_367774903

13 SubmittersRCV000289901 RCV000295707 RCV000324930 RCV000339962 RCV000381963 RCV000554905 RCV000622371 RCV001528437 RCV001798787 RCV004735479 RCV005404510

NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)

SNV
Germline

Chr2:178624681

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1995602

rs_144848584

5 SubmittersRCV000271481 RCV000277289 RCV000328849 RCV000363601 RCV000376613 RCV000732908 RCV001479457 RCV003317194

NM_001267550.2(TTN):c.39465G>A (p.Val13155=)

SNV
Germline

Chr2:178651535

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612082

rs_886055279

2 SubmittersRCV000262867 RCV000276165 RCV000298100 RCV000311435 RCV000370711 RCV001485167

NM_001267550.2(TTN):c.39044-15C>T

SNV
Germline

Chr2:178652556

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996887

rs_749495580

3 SubmittersRCV000280121 RCV000333308 RCV000335130 RCV000387863 RCV000386517 RCV000606069 RCV002521348

NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)

SNV
Germline

Chr2:178682837

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998485

rs_181395238

4 SubmittersRCV000281197 RCV000296455 RCV000338547 RCV000335141 RCV000388328 RCV000466619 RCV000598451 RCV001534640

NM_001267550.2(TTN):c.31857A>G (p.Val10619=)

SNV
Germline

Chr2:178689585

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612087

rs_886055286

2 SubmittersRCV000296798 RCV000316788 RCV000351614 RCV000372542 RCV000375924 RCV005209503

NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)

SNV
Germline

Chr2:178722314

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000833

rs_566454891

3 SubmittersRCV000278054 RCV000303166 RCV000337818 RCV000357914 RCV000393020 RCV000868462 RCV001672566

NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)

SNV
Germline

Chr2:178734416

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002230

rs_761269554

4 SubmittersRCV000305500 RCV000299401 RCV000353276 RCV000395789 RCV000401034 RCV001412070 RCV002469132 RCV003311763

NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu)

SNV
Germline

Chr2:178759096

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA2004154

rs_773862320

1 SubmittersRCV000269589 RCV000282834 RCV000321505 RCV000327007 RCV000371165

NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)

SNV
Germline

Chr2:178759123

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004158

rs_542799064

4 SubmittersRCV000280645 RCV000286304 RCV000334518 RCV000378395 RCV000406132 RCV002057626 RCV004021786 RCV005425934

NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)

SNV
Germline

Chr2:178767882

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004349

rs_760230943

4 SubmittersRCV000283233 RCV000307509 RCV000347546 RCV000362254 RCV000402676 RCV000756845 RCV002446594

NM_001267550.2(TTN):c.7368G>C (p.Val2456=)

SNV
Germline

Chr2:178773688

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612098

rs_886055301

3 SubmittersRCV000282788 RCV000291912 RCV000344498 RCV000383137 RCV000405850 RCV003765927 RCV005502787

NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)

SNV
Germline

Chr2:178774306

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004931

rs_776478343

2 SubmittersRCV000292190 RCV000328902 RCV000332462 RCV000381242 RCV000388836 RCV000678757

NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)

SNV
Germline

Chr2:178774943

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612101

rs_886055302

2 SubmittersRCV000272767 RCV000303571 RCV000361742 RCV000365228 RCV000406022 RCV003765928

NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)

SNV
Germline

Chr2:178776791

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005224

rs_770902874

6 SubmittersRCV000273247 RCV000274321 RCV000328235 RCV000334036 RCV000363172 RCV000730583 RCV005404515

NM_001267550.2(TTN):c.3380+12G>T

SNV
Germline

Chr2:178782200

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612114

rs_775071824

2 SubmittersRCV000281240 RCV000289971 RCV000319950 RCV000376968 RCV000373414 RCV001850794

NM_001267550.2(TTN):c.3132C>T (p.Ala1044=)

SNV
Germline

Chr2:178782571

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005628

rs_777315600

8 SubmittersRCV000280601 RCV000284731 RCV000335621 RCV000339783 RCV000392130 RCV000865316 RCV000600087 RCV001727691 RCV002436188

NM_001267550.2(TTN):c.2370+9A>G

SNV
Germline

Chr2:178785839

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005845

rs_373443384

3 SubmittersRCV000301265 RCV000314577 RCV000354328 RCV000369290 RCV000405227 RCV001462549 RCV004530336

NM_001267550.2(TTN):c.1398+9G>A

SNV
Germline

Chr2:178794390

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2006069

rs_368350210

3 SubmittersRCV000274930 RCV000276283 RCV000315059 RCV000327668 RCV000367407 RCV000610278 RCV000642977

NM_001267550.2(TTN):c.*1015A>G

SNV
Germline

Chr2:178525997

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10612987

rs_72629798

1 SubmittersRCV000304918 RCV000335175 RCV000341090 RCV000374509 RCV000396057

NM_001267550.2(TTN):c.*59G>A

SNV
Germline

Chr2:178526953

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612995

rs_72629795

1 SubmittersRCV000259324 RCV000286734 RCV000316779 RCV000339369 RCV000378394

NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)

SNV
Germline

Chr2:178530595

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985178

rs_148865574

4 SubmittersRCV000290412 RCV000313097 RCV000347759 RCV000396464 RCV000396451 RCV000533314 RCV001558153 RCV004992178

NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)

SNV
Germline

Chr2:178531209

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985267

rs_372875128

3 SubmittersRCV000273903 RCV000298551 RCV000313614 RCV000355738 RCV000396822 RCV000607925 RCV003137936

NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)

SNV
Germline

Chr2:178532024

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985394

rs_72629788

3 SubmittersRCV000284557 RCV000281470 RCV000324787 RCV000375453 RCV000379364 RCV002402053 RCV003137938

NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val)

SNV
Germline

Chr2:178532622

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985506

rs_370890922

3 SubmittersRCV000274660 RCV000289473 RCV000327506 RCV000380443 RCV000384361 RCV001565339 RCV002402055

NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn)

SNV
Germline

Chr2:178534328

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985774

rs_375002174

4 SubmittersRCV000264386 RCV000272777 RCV000308202 RCV000327987 RCV000362783 RCV000518469

NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)

SNV
Germline

Chr2:178535324

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985903

rs_773542514

8 SubmittersRCV000269466 RCV000284570 RCV000329031 RCV000378783 RCV000383573 RCV000727776 RCV001798783 RCV002379220 RCV006690330

NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)

SNV
Germline

Chr2:178537897

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1986202

rs_766169253

5 SubmittersRCV000275493 RCV000315284 RCV000330323 RCV000357183 RCV000370099 RCV000475410 RCV001508100 RCV001798785 RCV003335307

NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu)

SNV
Germline

Chr2:178538590

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986235

rs_762905152

1 SubmittersRCV000283070 RCV000287133 RCV000323273 RCV000317378 RCV000372278

NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)

SNV
Germline

Chr2:178541434

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype
not specified
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1986512

rs_55676195

9 SubmittersRCV000281590 RCV000292301 RCV000334395 RCV000349601 RCV000389059 RCV001544655 RCV002374563 RCV005404506 RCV005896011

NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)

SNV
Germline

Chr2:178546829

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987094

rs_764363274

4 SubmittersRCV000284524 RCV000324430 RCV000340044 RCV000378998 RCV000395826 RCV001393465 RCV003278775 RCV003114492

NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)

SNV
Germline

Chr2:178549120

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987436

rs_762590394

4 SubmittersRCV000279338 RCV000349657 RCV000350645 RCV000371523 RCV000405703 RCV000871575 RCV004544610

NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)

SNV
Germline

Chr2:178549172

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10613032

rs_771773845

4 SubmittersRCV000305866 RCV000307101 RCV000345585 RCV000395449 RCV000399321 RCV002057615 RCV003168502 RCV005404507

NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala)

SNV
Germline

Chr2:178552248

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987762

rs_768528782

1 SubmittersRCV000312839 RCV000314139 RCV000338390 RCV000349241 RCV000406601

NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)

SNV
Germline

Chr2:178557020

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988192

rs_374612925

8 SubmittersRCV000276661 RCV000311836 RCV000356207 RCV000368821 RCV000394705 RCV000470428 RCV000728173 RCV001613083 RCV002356451 RCV004735476

NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)

SNV
Germline

Chr2:178559873

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA10613037

rs_886055233

3 SubmittersRCV000259283 RCV000283979 RCV000321288 RCV000354223 RCV000378376 RCV002521344 RCV003226283

NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)

SNV
Germline

Chr2:178560749

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613048

rs_886055235

3 SubmittersRCV000268848 RCV000293446 RCV000333216 RCV000348319 RCV000387727 RCV001471987 RCV006342237

NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)

SNV
Germline

Chr2:178565546

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989326

rs_748292845

5 SubmittersRCV000278202 RCV000312374 RCV000367597 RCV000445100 RCV000399453 RCV000401256 RCV000727491 RCV001086740 RCV002348080

NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)

SNV
Germline

Chr2:178567226

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA1989554

rs_534003014

13 SubmittersRCV000288225 RCV000327544 RCV000333541 RCV000384466 RCV000385670 RCV000467844 RCV000516790 RCV000731987 RCV002338920 RCV001798786 RCV005025470

NM_001267550.2(TTN):c.78401G>A (p.Arg26134His)

SNV
Germline

Chr2:178567731

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1989607

rs_377668457

4 SubmittersRCV000282564 RCV000337388 RCV000336442 RCV000380556 RCV000372311 RCV002348081 RCV003137944 RCV005025471

NM_001267550.2(TTN):c.75969T>C (p.Val25323=)

SNV
Germline

Chr2:178570163

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989975

rs_368759398

6 SubmittersRCV000283572 RCV000289220 RCV000333780 RCV000328072 RCV000381301 RCV000427377 RCV000866981 RCV002328851 RCV003137945

NM_001267550.2(TTN):c.75378T>A (p.Gly25126=)

SNV
Germline

Chr2:178570754

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613076

rs_886055246

3 SubmittersRCV000271308 RCV000324462 RCV000328742 RCV000376431 RCV000363785 RCV002338922 RCV002057619

NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser)

SNV
Germline

Chr2:178570974

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990091

rs_748412838

3 SubmittersRCV000264049 RCV000268546 RCV000316644 RCV000359836 RCV000373706 RCV003137946 RCV006263879

NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)

SNV
Germline

Chr2:178572569

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1990351

rs_756809007

3 SubmittersRCV000290915 RCV000315489 RCV000345857 RCV000369773 RCV000406615 RCV002338924 RCV002057620

NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)

SNV
Germline

Chr2:178583766

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991705

rs_778703530

5 SubmittersRCV000282443 RCV000297889 RCV000337522 RCV000408183 RCV000408175 RCV002356454 RCV002487471 RCV003488550 RCV005404509

NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=)

SNV
Germline

Chr2:178599198

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613088

rs_886055261

2 SubmittersRCV000278078 RCV000335442 RCV000339118 RCV000375037 RCV000378631 RCV001434068

NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)

SNV
Germline

Chr2:178599637

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993284

rs_772767570

3 SubmittersRCV000261492 RCV000283675 RCV000323509 RCV000380363 RCV000384286 RCV000841748 RCV002436187

NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)

SNV
Germline

Chr2:178605140

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993706

rs_531242797

5 SubmittersRCV000261639 RCV000297342 RCV000356804 RCV000350885 RCV000395016 RCV000868806 RCV001551202 RCV002450900

NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)

SNV
Germline

Chr2:178616835

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994923

rs_779940754

3 SubmittersRCV000307343 RCV000306033 RCV000347059 RCV000364155 RCV000441561 RCV000405787 RCV002057622

NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile)

SNV
Germline

Chr2:178617949

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1995050

rs_148808516

2 SubmittersRCV000266276 RCV000310773 RCV000321133 RCV000361890 RCV000365565 RCV006650083

NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=)

SNV
Germline

Chr2:178618777

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613113

rs_397517586

2 SubmittersRCV000260380 RCV000280843 RCV000315704 RCV000374957 RCV000378459 RCV005222899

NM_001267550.2(TTN):c.40634-9A>G

SNV
Germline

Chr2:178640639

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996423

rs_373511249

6 SubmittersRCV000264192 RCV000304053 RCV000322272 RCV000352942 RCV000408205 RCV000555009 RCV000607770 RCV001718703 RCV004544612

NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)

SNV
Germline

Chr2:178677711

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998122

rs_765827814

4 SubmittersRCV000308885 RCV000367572 RCV000362500 RCV000398800 RCV000399587 RCV000642974 RCV000596957

NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val)

SNV
Germline

Chr2:178683217

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10613118

rs_886055284

2 SubmittersRCV000307184 RCV000303687 RCV000342253 RCV000364327 RCV000398692 RCV000609781

NC_000002.12:g.178692011C>T

SNV
Germline

Chr2:178692011

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998860

rs_145387989

4 SubmittersRCV000274853 RCV000330018 RCV000333420 RCV000387922 RCV000384577 RCV000555758 RCV001546516 RCV003235193

NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)

SNV
Germline

Chr2:178693979

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998946

rs_772882862

5 SubmittersRCV000283258 RCV000298390 RCV000338121 RCV000578113 RCV000836499 RCV000577995

NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)

SNV
Germline

Chr2:178709777

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999574

rs_370604793

4 SubmittersRCV000312837 RCV000314113 RCV000338482 RCV000367535 RCV000394331 RCV000528891 RCV001718704 RCV003330642

NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)

SNV
Germline

Chr2:178711132

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613147

rs_886055291

2 SubmittersRCV000259425 RCV000293543 RCV000319321 RCV000373879 RCV000388787 RCV001484151

NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe)

SNV
Germline

Chr2:178711974

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999715

rs_777547707

1 SubmittersRCV000263381 RCV000302666 RCV000353530 RCV000362104 RCV000395631

NM_001267550.2(TTN):c.27654T>G (p.Val9218=)

SNV
Germline

Chr2:178712176

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999748

rs_780101457

4 SubmittersRCV000284160 RCV000285128 RCV000328627 RCV000339169 RCV000405812 RCV000878877 RCV001697675

NM_001267550.2(TTN):c.25640-4A>G

SNV
Germline

Chr2:178715778

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613154

rs_886055292

2 SubmittersRCV000287558 RCV000293376 RCV000351807 RCV000348460 RCV000407195 RCV003765926

NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser)

SNV
Germline

Chr2:178719233

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000493

rs_374167223

3 SubmittersRCV000290510 RCV000286579 RCV000378580 RCV000378033 RCV000347856 RCV000997528

NM_001267550.2(TTN):c.24039G>A (p.Pro8013=)

SNV
Germline

Chr2:178719351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000508

rs_768390615

3 SubmittersRCV000261521 RCV000301251 RCV000323594 RCV000354024 RCV000362001 RCV002057625 RCV005404511

NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu)

SNV
Germline

Chr2:178725524

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2001169

rs_774362265

3 SubmittersRCV000266393 RCV000267277 RCV000321469 RCV000376061 RCV000381693 RCV005404512

NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)

SNV
Germline

Chr2:178732901

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002064

rs_772821743

4 SubmittersRCV000289802 RCV000343861 RCV000340159 RCV000395707 RCV000458923 RCV000397399 RCV001464347

NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)

SNV
Germline

Chr2:178733462

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002143

rs_780784090

3 SubmittersRCV000294245 RCV000314219 RCV000343781 RCV000349242 RCV000397496 RCV001427751 RCV004546484

NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala)

SNV
Germline

Chr2:178735658

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002346

rs_201744218

4 SubmittersRCV000263978 RCV000267738 RCV000321422 RCV000372773 RCV000378610 RCV000475236 RCV000597375 RCV005404513

NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=)

SNV
Germline

Chr2:178776863

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005232

rs_540957547

3 SubmittersRCV000287007 RCV000345110 RCV000346254 RCV000403055 RCV000407728 RCV001448278 RCV006659414

NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)

SNV
Germline

Chr2:178777295

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005281

rs_145709534

6 SubmittersRCV000289346 RCV000290369 RCV000350269 RCV000384922 RCV000391245 RCV000424425 RCV000547699 RCV002338926

NM_001267550.2(TTN):c.3522A>C (p.Glu1174Asp)

SNV
Germline

Chr2:178781122

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005539

rs_545280886

1 SubmittersRCV000274044 RCV000316361 RCV000331363 RCV000369729 RCV000366306

NM_001267550.2(TTN):c.*587T>A

SNV
Germline

Chr2:178526425

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613196

rs_114788736

2 SubmittersRCV000297685 RCV000337437 RCV000352395 RCV000394247 RCV000402321 RCV001836806

NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)

SNV
Germline

Chr2:178528825

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985024

rs_761965591

4 SubmittersRCV000304393 RCV000339047 RCV000345257 RCV000396167 RCV000396160 RCV001405894 RCV002411225 RCV004530328

NM_001267550.2(TTN):c.106293T>C (p.Val35431=)

SNV
Germline

Chr2:178530322

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985134

rs_749108651

4 SubmittersRCV000306472 RCV000366772 RCV000363522 RCV000396665 RCV000398905 RCV001434895 RCV002418194 RCV005628248

NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)

SNV
Germline

Chr2:178532051

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10613205

rs_886055222

3 SubmittersRCV000266350 RCV000306321 RCV000348091 RCV000361010 RCV000394509 RCV001038472 RCV003486815

NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)

SNV
Germline

Chr2:178532623

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985507

rs_375120372

5 SubmittersRCV000283446 RCV000334897 RCV000340772 RCV000404694 RCV000406553 RCV001700063 RCV001726129 RCV002402056 RCV002521343

NM_001267550.2(TTN):c.95829A>G (p.Gly31943=)

SNV
Germline

Chr2:178544400

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986868

rs_572618111

4 SubmittersRCV000263135 RCV000266669 RCV000301954 RCV000323963 RCV000355650 RCV000597226 RCV004992179

NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn)

SNV
Germline

Chr2:178551158

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987639

rs_376634713

4 SubmittersRCV000262504 RCV000296494 RCV000332733 RCV000331575 RCV000386114 RCV001570054 RCV002365395

NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)

SNV
Germline

Chr2:178554119

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613213

rs_201658018

3 SubmittersRCV000313083 RCV000338706 RCV000335374 RCV000373666 RCV000406194 RCV001475903 RCV004992180

NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val)

SNV
Germline

Chr2:178558025

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988331

rs_763682832

1 SubmittersRCV000296535 RCV000309482 RCV000344377 RCV000388467 RCV000404617

NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)

SNV
Germline

Chr2:178558476

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988398

rs_774191975

6 SubmittersRCV000303011 RCV000343285 RCV000357853 RCV000404006 RCV000394606 RCV000471925 RCV001531503

NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met)

SNV
Germline

Chr2:178560591

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613227

rs_886055234

2 SubmittersRCV000298686 RCV000311566 RCV000338451 RCV000353682 RCV000406628 RCV000841325

NM_001267550.2(TTN):c.83985C>T (p.Asn27995=)

SNV
Germline

Chr2:178562147

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988850

rs_766611189

3 SubmittersRCV000268003 RCV000320829 RCV000359126 RCV000360095 RCV000404020 RCV000868107 RCV005298481

NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)

SNV
Germline

Chr2:178562153

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988852

rs_755164013

2 SubmittersRCV000271528 RCV000276369 RCV000325539 RCV000386022 RCV000382436 RCV002057616

NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)

SNV
Germline

Chr2:178563400

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989024

rs_368850871

4 SubmittersRCV000314233 RCV000336400 RCV000356273 RCV000406935 RCV000592500 RCV000406888

NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser)

SNV
Germline

Chr2:178564609

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1989198

rs_749305586

1 SubmittersRCV000261667 RCV000315436 RCV000319078 RCV000354170 RCV000368850

NM_001267550.2(TTN):c.80145C>G (p.Val26715=)

SNV
Germline

Chr2:178565987

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989386

rs_761074887

4 SubmittersRCV000285641 RCV000331440 RCV000343928 RCV000382160 RCV000383423 RCV000769936 RCV003765922 RCV005298482

NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)

SNV
Germline

Chr2:178569836

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613247

rs_868081432

3 SubmittersRCV000295472 RCV000294111 RCV000330523 RCV000345752 RCV000389701 RCV000593016 RCV002057618

NM_001267550.2(TTN):c.68450G>A (p.Arg22817Gln)

SNV
Germline

Chr2:178578065

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991104

rs_372496072

3 SubmittersRCV000308799 RCV000315369 RCV000362380 RCV000368859 RCV000406257 RCV004999327 RCV006458280

NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)

SNV
Germline

Chr2:178578124

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991113

rs_368985748

8 SubmittersRCV000287389 RCV000288345 RCV000342338 RCV000382759 RCV000377156 RCV000616130 RCV001426889 RCV001726130 RCV002323537 RCV003486816

NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)

SNV
Germline

Chr2:178583772

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1991706

rs_745626132

5 SubmittersRCV000273244 RCV000310901 RCV000325941 RCV000365624 RCV000404582 RCV000643671 RCV002365396 RCV003335308

NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)

SNV
Germline

Chr2:178590449

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992388

rs_377529060

7 SubmittersRCV000265408 RCV000306892 RCV000310552 RCV000358355 RCV000398857 RCV000557466 RCV001375616 RCV003137950 RCV002460068 RCV003486817 RCV004544611

NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile)

SNV
Germline

Chr2:178592432

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992645

rs_757911359

1 SubmittersRCV000299263 RCV000351980 RCV000348294 RCV000387777 RCV000401570

NC_000002.12:g.178605717T>C

SNV
Germline

Chr2:178605717

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993774

rs_772324772

4 SubmittersRCV000294104 RCV000328665 RCV000330362 RCV000383846 RCV000389516 RCV000727849 RCV000642881 RCV004678682

NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr)

SNV
Germline

Chr2:178612537

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder
Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1994456

rs_774556838

5 SubmittersRCV000281175 RCV000313592 RCV000336193 RCV000403902 RCV000396494 RCV004735478 RCV003486819 RCV006277800 RCV006650082

NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)

SNV
Germline

Chr2:178614134

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994642

rs_376188859

8 SubmittersRCV000302290 RCV000300967 RCV000340868 RCV000353745 RCV000405891 RCV000734070 RCV001079002 RCV001723920 RCV002429296

NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)

SNV
Germline

Chr2:178616865

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994926

rs_780824428

2 SubmittersRCV000259842 RCV000265830 RCV000299870 RCV000357009 RCV000358516 RCV002057623

NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)

SNV
Germline

Chr2:178619834

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995229

rs_537428006

3 SubmittersRCV000287871 RCV000295969 RCV000351115 RCV000385804 RCV000407698 RCV000869607 RCV003137953

NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)

SNV
Germline

Chr2:178621868

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995513

rs_781392140

5 SubmittersRCV000262626 RCV000268335 RCV000320230 RCV000355134 RCV000360752 RCV000457525 RCV001798788 RCV002402057 RCV003137954

NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)

SNV
Germline

Chr2:178677850

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613325

rs_886055281

3 SubmittersRCV000282323 RCV000285991 RCV000321228 RCV000343351 RCV000378201 RCV000431074 RCV001432705

NM_001267550.2(TTN):c.32011+15T>G

SNV
Germline

Chr2:178689275

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA10613331

rs_886055285

3 SubmittersRCV000312666 RCV000309321 RCV000349105 RCV000352495 RCV000396858 RCV002523097 RCV003226284

NM_001267550.2(TTN):c.31764C>T (p.Val10588=)

SNV
Germline

Chr2:178689895

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613337

rs_766441395

2 SubmittersRCV000264759 RCV000301235 RCV000304548 RCV000359235 RCV000396495 RCV000643184

NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)

SNV
Germline

Chr2:178723986

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613346

rs_878903172

3 SubmittersRCV000282337 RCV000285701 RCV000317781 RCV000339703 RCV000374677 RCV000592244 RCV001436657

NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)

SNV
Germline

Chr2:178732226

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2001982

rs_754798297

3 SubmittersRCV000264269 RCV000272606 RCV000324003 RCV000377541 RCV000378629 RCV001447964 RCV005238920

NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)

SNV
Germline

Chr2:178732498

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613351

rs_886055297

2 SubmittersRCV000295528 RCV000310643 RCV000345720 RCV000365515 RCV000399838 RCV001454068

NM_001267550.2(TTN):c.9267G>A (p.Gln3089=)

SNV
Germline

Chr2:178768052

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004393

rs_764189986

4 SubmittersRCV000261223 RCV000285887 RCV000322086 RCV000380285 RCV000376739 RCV000960943 RCV002374564 RCV005404514

NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile)

SNV
Germline

Chr2:178771436

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2004717

rs_766753906

4 SubmittersRCV000301851 RCV000341719 RCV000338450 RCV000396832 RCV000405608 RCV001582975 RCV005407066

NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)

SNV
Germline

Chr2:178774012

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004888

rs_777101912

3 SubmittersRCV000413035 RCV001494675 RCV006445824

NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)

SNV
Germline

Chr2:178777862

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005336

rs_72647876

4 SubmittersRCV000272567 RCV000307752 RCV000330032 RCV000364736 RCV000361649 RCV000643285 RCV001844128 RCV004999328

NM_001267550.2(TTN):c.583+4C>T

SNV
Germline

Chr2:178800391

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006298

rs_764670848

5 SubmittersRCV000268668 RCV000313077 RCV000313425 RCV000363475 RCV000408298 RCV000828353 RCV000643901 RCV002356455

NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)

SNV
Germline

Chr2:178557800

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16042363

rs_1057518275

2 SubmittersRCV000414356 RCV003766156

NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)

SNV
Germline

Chr2:178535790

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16042374

rs_1057518195

9 SubmittersRCV000412935 RCV000706846 RCV002379268 RCV004796170

NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)

SNV
Germline

Chr2:178531962

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16042411

rs_1057518003

5 SubmittersRCV000412765 RCV001045728 RCV002402100 RCV004796167

NM_001267550.2(TTN):c.64972+1G>T

SNV
Germline

Chr2:178584668

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042421

rs_1057518009

1 SubmittersRCV000414745

NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter)

SNV
Germline

Chr2:178734478

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16042422

rs_1057518470

2 SubmittersRCV000414680 RCV001861434

NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)

SNV
Unknown

Chr2:178571565

Pathogenic

Myopathy

Criteria Provided
Single Submitter

CA16043381

rs_1057518851

1 SubmittersRCV000414758

NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter)

SNV
Germline

Chr2:178711235

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16043802

rs_1057519160

1 SubmittersRCV000416209

NM_001267550.2(TTN):c.43185C>A (p.Ala14395=)

SNV
Germline

Chr2:178632946

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16043884

rs_1057519234

2 SubmittersRCV000416026 RCV001427198

NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter)

SNV
Germline

Chr2:178702634

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16043887

rs_1057519237

1 SubmittersRCV000415992

NM_001267550.2(TTN):c.91271-1G>A

SNV
Germline

Chr2:178551261

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603864

rs_1057522831

1 SubmittersRCV000441617

NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)

SNV
Germline

Chr2:178551676

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16603867

rs_1057522835

4 SubmittersRCV000420470 RCV000643613 RCV000727473 RCV002365538

NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)

SNV
Germline

Chr2:178557859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988312

rs_371763584

6 SubmittersRCV000435003 RCV000734243 RCV001087218 RCV002356614

NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)

SNV
Germline

Chr2:178560618

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16603877

rs_1057520803

2 SubmittersRCV000438577 RCV001059058

NM_001267550.2(TTN):c.76374A>T (p.Pro25458=)

SNV
Germline

Chr2:178569758

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16603879

rs_891629905

4 SubmittersRCV000431242 RCV001470970 RCV002339081 RCV003486839

NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)

SNV
Germline

Chr2:178574465

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990604

rs_756824434

4 SubmittersRCV000438567 RCV000867482 RCV002329001 RCV003139594

NM_001267550.2(TTN):c.68498C>G (p.Ser22833Ter)

SNV
Germline

Chr2:178578017

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16603885

rs_876658077

2 SubmittersRCV000438453 RCV006555926

NM_001267550.2(TTN):c.66769+1G>A

SNV
Germline

Chr2:178581498

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603886

rs_1057521946

1 SubmittersRCV000435705

NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)

SNV
Germline

Chr2:178670291

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1997853

rs_369739111

6 SubmittersRCV000726415 RCV001087408

NM_001267550.2(TTN):c.30433+15A>T

SNV
Germline

Chr2:178702439

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999179

rs_371872220

6 SubmittersRCV000436612 RCV001136525 RCV001136527 RCV001136526 RCV001136528 RCV001136524 RCV001528961 RCV002065065

NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)

SNV
Germline

Chr2:178711066

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999651

rs_149910892

6 SubmittersRCV000441613 RCV000730352 RCV001087475 RCV004532996

NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)

SNV
Germline

Chr2:178723458

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2000993

rs_752620885

6 SubmittersRCV000713985 RCV001170081 RCV001088499 RCV001824766

NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)

SNV
Germline

Chr2:178773146

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16603946

rs_935809232

4 SubmittersRCV000643856 RCV001698180 RCV002402185

NM_001267550.2(TTN):c.97193-16T>G

SNV
Germline

Chr2:178542579

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986601

rs_371317486

4 SubmittersRCV000423326 RCV001198132 RCV002061567

NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)

SNV
Germline

Chr2:178546237

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987022

rs_373509153

6 SubmittersRCV000417741 RCV000730569 RCV001088843 RCV002365492

NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)

SNV
Germline

Chr2:178549385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987465

rs_373311745

8 SubmittersRCV000431101 RCV000730355 RCV001170305 RCV001080856 RCV002356532 RCV004530552

NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)

SNV
Germline

Chr2:178557491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988260

rs_72648230

10 SubmittersRCV000418059 RCV000725633 RCV001086339 RCV002356531

NM_001267550.2(TTN):c.88594+2T>G

SNV
Germline

Chr2:178554863

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16603990

rs_1057520744

2 SubmittersRCV000433360 RCV003766216

NM_001267550.2(TTN):c.77212C>T (p.Gln25738Ter)

SNV
Germline

Chr2:178568920

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603992

rs_1057523502

1 SubmittersRCV000431348

NM_001267550.2(TTN):c.84041C>G (p.Ser28014Ter)

SNV
Germline

Chr2:178562091

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603993

rs_1057524838

1 SubmittersRCV000436042

NM_001267550.2(TTN):c.79344G>T (p.Val26448=)

SNV
Germline

Chr2:178566788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989485

rs_369875680

4 SubmittersRCV000444105 RCV000487938 RCV001083674 RCV002348233

NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)

SNV
Germline

Chr2:178577822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991066

rs_750368181

4 SubmittersRCV000422049 RCV000727038 RCV002522697 RCV006342276

NM_001267550.2(TTN):c.73443C>A (p.Tyr24481Ter)

SNV
Germline

Chr2:178572689

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16604000

rs_1057523460

1 SubmittersRCV000433711

NM_001267550.2(TTN):c.57112-4C>T

SNV
Germline

Chr2:178598062

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993094

rs_117072049

5 SubmittersRCV001133742 RCV001133743 RCV001133739 RCV001133740 RCV001133741 RCV001170373 RCV001509980 RCV001311244 RCV002436254

NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)

SNV
Germline

Chr2:178582081

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991546

rs_368297582

4 SubmittersRCV000431291 RCV000728771 RCV002063423 RCV002356597

NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)

SNV
Germline

Chr2:178590992

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16604007

rs_1057522256

5 SubmittersRCV000437959 RCV001384449 RCV003388581 RCV006342264

NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)

SNV
Germline

Chr2:178598904

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16604009

rs_72646828

5 SubmittersRCV000423182 RCV001239436 RCV004796176 RCV006659456

NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)

SNV
Germline

Chr2:178607897

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993909

rs_374228930

7 SubmittersRCV000444140 RCV000733818 RCV001078910 RCV002429376

NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)

SNV
Germline

Chr2:178607930

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604011

rs_1057520724

2 SubmittersRCV000422368 RCV005222924

NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)

SNV
Germline

Chr2:178618325

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995117

rs_573218266

12 SubmittersRCV000437070 RCV000544867 RCV000617243 RCV001136291 RCV001129309 RCV001129310 RCV001129311 RCV001129312 RCV001288118

NM_001267550.2(TTN):c.40634-1G>A

SNV
Germline

Chr2:178640631

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996422

rs_749062863

3 SubmittersRCV000420057 RCV001865402 RCV004992219

NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)

SNV
Germline

Chr2:178649827

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1996569

rs_756518824

7 SubmittersRCV000726492 RCV001085672 RCV004533089 RCV005404563

NM_001267550.2(TTN):c.43146G>A (p.Leu14382=)

SNV
Germline

Chr2:178632985

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995934

rs_751236287

3 SubmittersRCV000442715 RCV000643136 RCV002402212

NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)

SNV
Germline

Chr2:178633672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996024

rs_775889693

6 SubmittersRCV000417924 RCV000727964 RCV001085096 RCV002402134 RCV004530560

NM_001267550.2(TTN):c.33126C>T (p.Val11042=)

SNV
Germline

Chr2:178681707

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998448

rs_72650036

7 SubmittersRCV000418302 RCV001130217 RCV001130219 RCV001130218 RCV001130220 RCV001130221 RCV001401879 RCV001729581

NM_001267550.2(TTN):c.27049+10C>A

SNV
Germline

Chr2:178713075

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999875

rs_780979988

3 SubmittersRCV000438395 RCV000978823 RCV001134144 RCV001134146 RCV001134145 RCV001134147 RCV001134148

NM_001267550.2(TTN):c.30511+3G>A

SNV
Germline

Chr2:178702165

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA1999153

rs_563582627

11 SubmittersRCV000445119 RCV000546673 RCV000768890 RCV000728822 RCV001132146 RCV001132142 RCV001132143 RCV001132144 RCV001132145 RCV005027485

NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)

SNV
Germline

Chr2:178705201

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1999360

rs_368780181

4 SubmittersRCV000726934 RCV001129762 RCV001129763 RCV001132469 RCV001132470 RCV001132471

NC_000002.12:g.178719839G>A

SNV
Germline

Chr2:178719839

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000585

rs_771244164

6 SubmittersRCV000435279 RCV000545919 RCV001134992 RCV001134993 RCV001134994 RCV001134995 RCV001134996 RCV001704269

NM_001267550.2(TTN):c.16581C>T (p.Val5527=)

SNV
Germline

Chr2:178732480

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2002014

rs_373179717

7 SubmittersRCV000585507 RCV001086968 RCV001821162

NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)

SNV
Germline

Chr2:178731916

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001936

rs_770260995

4 SubmittersRCV000438432 RCV000732482 RCV001446078

NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

SNV
Germline

Chr2:178740901

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2002731

rs_140289517

6 SubmittersRCV000528151 RCV000730353 RCV002436297 RCV004586708

NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)

SNV
Germline

Chr2:178776842

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005231

rs_753444772

3 SubmittersRCV000433039 RCV000731595 RCV002522637

NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)

SNV
Germline

Chr2:178777910

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005349

rs_746063269

4 SubmittersRCV000435204 RCV000643756 RCV001796049

NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)

SNV
Germline

Chr2:178773540

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA2004799

rs_780415493

3 SubmittersRCV000425248 RCV003766423 RCV004764925

NM_001267550.2(TTN):c.3524-3T>C

SNV
Germline

Chr2:178780208

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005523

rs_762717963

2 SubmittersRCV001696770 RCV002451044

NM_001267550.2(TTN):c.2573C>A (p.Ser858Ter)

SNV
Germline

Chr2:178784272

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16604057

rs_772294126

2 SubmittersRCV000419904 RCV005213293

NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter)

SNV
Germline

Chr2:178558118

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604095

rs_1057520580

2 SubmittersRCV000442589 RCV006555924

NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)

SNV
Germline

Chr2:178561877

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1988805

rs_772842119

2 SubmittersRCV000417708 RCV001865367

NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)

SNV
Germline

Chr2:178569267

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604111

rs_756552975

2 SubmittersRCV000439521 RCV000819827

NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)

SNV
Germline

Chr2:178584899

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604139

rs_1057523344

2 SubmittersRCV000427280 RCV001221206

NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)

SNV
Germline

Chr2:178591071

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992461

rs_776141268

7 SubmittersRCV000432621 RCV000725695 RCV001131879 RCV001088074 RCV001131877 RCV001131878 RCV001129192 RCV001129193 RCV001798807 RCV002323609

NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)

SNV
Germline

Chr2:178607307

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993820

rs_771792080

6 SubmittersRCV000726974 RCV001087292 RCV002429430 RCV005404565

NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)

SNV
Germline

Chr2:178614554

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16604152

rs_1057523898

4 SubmittersRCV000643900 RCV000727329 RCV002429441

NM_001267550.2(TTN):c.28175-10C>T

SNV
Germline

Chr2:178710932

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999641

rs_748478445

4 SubmittersRCV000433649 RCV000726928 RCV001130930 RCV001130931 RCV001130932 RCV001130933 RCV001130934 RCV001429086

NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)

SNV
Germline

Chr2:178715038

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000067

rs_778772942

3 SubmittersRCV001397867 RCV001696786

NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)

SNV
Germline

Chr2:178715605

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000139

rs_369099681

8 SubmittersRCV000442226 RCV000865804 RCV001840500 RCV001840501 RCV001840502 RCV001840503 RCV003422392 RCV004530551

NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)

SNV
Germline

Chr2:178720943

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000723

rs_769505705

3 SubmittersRCV000432816 RCV000728534 RCV001089237

NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)

SNV
Germline

Chr2:178722918

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16604212

rs_775230627

3 SubmittersRCV000430689 RCV001128773 RCV001131422 RCV001128772 RCV001131423 RCV001131424 RCV001394487

NM_133379.5(TTN):c.12699T>C (p.Ala4233=)

SNV
Germline

Chr2:178749701

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2003521

rs_185931752

4 SubmittersRCV000442060 RCV000730667 RCV004530550

NM_001267550.2(TTN):c.8184C>T (p.Val2728=)

SNV
Germline

Chr2:178770608

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004632

rs_753356474

5 SubmittersRCV000731385 RCV001416535 RCV002411369

NM_001267550.2(TTN):c.918C>T (p.Ser306=)

SNV
Germline

Chr2:178795249

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006173

rs_773898647

4 SubmittersRCV000727328 RCV000643678 RCV002446745

NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr)

SNV
Germline

Chr2:178542432

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986576

rs_778341120

3 SubmittersRCV000468866 RCV005404582 RCV005411435

NM_001267550.2(TTN):c.107181C>T (p.Gly35727=)

SNV
Germline

Chr2:178528570

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610206

rs_762859509

2 SubmittersRCV000462433 RCV005502799

NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)

SNV
Germline

Chr2:178530973

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985226

rs_560557634

3 SubmittersRCV000474099 RCV002411429 RCV003139639

NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)

SNV
Germline

Chr2:178533241

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610211

rs_1060500505

2 SubmittersRCV001377975 RCV002223840

NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)

SNV
Germline

Chr2:178534554

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610212

rs_1060500471

1 SubmittersRCV001379114

NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)

SNV
Germline

Chr2:178543914

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986795

rs_369835255

3 SubmittersRCV000458401 RCV000619900 RCV001555537

NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)

SNV
Germline

Chr2:178544203

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986834

rs_375368824

4 SubmittersRCV000475458 RCV000839289 RCV001130529 RCV001131256 RCV001131257 RCV001131258 RCV001131259 RCV003486846

NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)

SNV
Germline

Chr2:178544424

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610217

rs_375076970

1 SubmittersRCV001377407

NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)

SNV
Germline

Chr2:178545388

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA1986896

rs_199781261

8 SubmittersRCV000459691 RCV000617892 RCV001128731 RCV001128732 RCV001128733 RCV001128734 RCV001128735 RCV001696844 RCV002271501 RCV005899431

NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)

SNV
Germline

Chr2:178546083

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986997

rs_758006837

5 SubmittersRCV000468524 RCV001129060 RCV001129061 RCV001136031 RCV001129063 RCV001129062 RCV001662418

NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)

SNV
Germline

Chr2:178546601

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1987073

rs_771635198

5 SubmittersRCV000463419 RCV000597350 RCV002365600 RCV002481382

NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)

SNV
Germline

Chr2:178548447

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987341

rs_776018262

8 SubmittersRCV000475361 RCV000517592 RCV001530075

NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)

SNV
Germline

Chr2:178553039

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610236

rs_1060500457

3 SubmittersRCV001377609 RCV002489006 RCV006699261

NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)

SNV
Germline

Chr2:178560660

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988633

rs_373129706

6 SubmittersRCV000467683 RCV000600782 RCV002356642 RCV003139617 RCV003150214

NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)

SNV
Germline

Chr2:178552107

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
not specified
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA1987742

rs_200022152

9 SubmittersRCV000475196 RCV000726797 RCV001170308 RCV005404573 RCV005899428

NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)

SNV
Germline

Chr2:178560711

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988647

rs_754356257

3 SubmittersRCV001461222 RCV002356715 RCV003488621

NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile)

SNV
Germline

Chr2:178552964

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987851

rs_779619858

3 SubmittersRCV000476918 RCV005239019 RCV004696203

NM_001267550.2(TTN):c.88611T>G (p.Pro29537=)

SNV
Germline

Chr2:178554736

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1988116

rs_555380931

6 SubmittersRCV000470745 RCV000768868 RCV001128963 RCV001131624 RCV001131621 RCV001131623 RCV001131622 RCV002356714 RCV004539967 RCV005404597

NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)

SNV
Germline

Chr2:178557795

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610256

rs_1060500586

1 SubmittersRCV000467875

NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)

SNV
Germline

Chr2:178557906

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1988318

rs_189030321

8 SubmittersRCV000458141 RCV000618964 RCV000727768 RCV000765552 RCV001001980

NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)

SNV
Germline

Chr2:178559797

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610263

rs_1060500525

5 SubmittersRCV000469929 RCV003441861 RCV003168740 RCV006458367

NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys)

SNV
Germline

Chr2:178562503

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA1988894

rs_527624888

3 SubmittersRCV000471742 RCV001562516 RCV001563646

NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)

SNV
Germline

Chr2:178563859

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610279

rs_371332011

4 SubmittersRCV000466161 RCV002225616 RCV002348266 RCV006699262

NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)

SNV
Germline

Chr2:178564605

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989195

rs_199726308

10 SubmittersRCV000467896 RCV000620057 RCV000605477 RCV000768914 RCV003139622

NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)

SNV
Germline

Chr2:178532787

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985539

rs_376443365

5 SubmittersRCV000473693 RCV001545632 RCV003155185

NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)

SNV
Germline

Chr2:178565273

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989292

rs_771257647

5 SubmittersRCV000596559 RCV000725692 RCV001083673 RCV002350004

NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)

SNV
Germline

Chr2:178566249

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989422

rs_201091376

6 SubmittersRCV000464905 RCV000597470 RCV002339120 RCV003330689

NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)

SNV
Germline

Chr2:178527031

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610284

rs_1060500541

3 SubmittersRCV000462807 RCV002223841

NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)

SNV
Germline

Chr2:178566586

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989460

rs_776256093

7 SubmittersRCV000474513 RCV000603844 RCV000727779 RCV002348269

NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)

SNV
Germline

Chr2:178537060

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986085

rs_370300135

6 SubmittersRCV000467005 RCV000727163 RCV000852782 RCV002379415

NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)

SNV
Germline

Chr2:178564975

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1989244

rs_776943572

6 SubmittersRCV000460584 RCV000594780 RCV001129075 RCV001129076 RCV001129077 RCV001129074 RCV001129073 RCV005404577

NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)

SNV
Germline

Chr2:178540219

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986463

rs_773776767

3 SubmittersRCV000459480 RCV000728972

NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile)

SNV
Germline

Chr2:178568425

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989723

rs_570615498

4 SubmittersRCV000458673 RCV001797087 RCV005431676

NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)

SNV
Germline

Chr2:178532490

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985480

rs_530959653

6 SubmittersRCV000473391 RCV000617739 RCV001578025 RCV006249376

NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)

SNV
Germline

Chr2:178569478

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1989877

rs_545954490

7 SubmittersRCV000473644 RCV000788867 RCV002339116 RCV002502607 RCV004787709

NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)

SNV
Germline

Chr2:178569487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1989878

rs_181166140

9 SubmittersRCV000726951 RCV001084873 RCV002348263 RCV004539927 RCV005899425

NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)

SNV
Germline

Chr2:178572285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1990299

rs_201694149

6 SubmittersRCV000474091 RCV000595166 RCV000620920 RCV000622593 RCV005404572

NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)

SNV
Germline

Chr2:178534401

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985790

rs_375159973

6 SubmittersRCV000472652 RCV000490792 RCV001250556 RCV004696911 RCV005404579

NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)

SNV
Germline

Chr2:178544268

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986851

rs_369405564

5 SubmittersRCV000591351 RCV001079018 RCV002365682 RCV003330700

NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)

SNV
Germline

Chr2:178571624

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610308

rs_1060503924

5 SubmittersRCV000463302 RCV001129083 RCV001129084 RCV001129085 RCV001129086 RCV001129082 RCV002341067 RCV006447210

NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)

SNV
Germline

Chr2:178545571

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986938

rs_774814532

4 SubmittersRCV000476418 RCV001548500 RCV002365601

NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)

SNV
Germline

Chr2:178547902

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987257

rs_563887822

5 SubmittersRCV000471260 RCV000518703 RCV002365596

NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr)

SNV
Germline

Chr2:178574253

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1990576

rs_568223521

3 SubmittersRCV000465920 RCV000842647 RCV005027500

NM_001267550.2(TTN):c.91536T>A (p.Ser30512=)

SNV
Germline

Chr2:178550995

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987617

rs_769873625

2 SubmittersRCV000474450 RCV002365599

NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)

SNV
Germline

Chr2:178552140

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610331

rs_1060500495

4 SubmittersRCV001376910 RCV002225615 RCV002365597 RCV003114580

NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)

SNV
Germline

Chr2:178546612

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610333

rs_1060500435

7 SubmittersRCV000475125 RCV001700373 RCV002365595 RCV004796183 RCV006699260

NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)

SNV
Germline

Chr2:178586726

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991939

rs_777176324

3 SubmittersRCV000475566 RCV000592324

NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)

SNV
Germline

Chr2:178548411

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1987337

rs_141817409

10 SubmittersRCV000594898 RCV001088474 RCV002365681 RCV005625619 RCV005404594

NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)

SNV
Germline

Chr2:178577291

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA1990999

rs_771710562

6 SubmittersRCV000457085 RCV000608680 RCV000727783 RCV002329022 RCV005899429

NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)

SNV
Germline

Chr2:178549757

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610337

rs_1060500402

1 SubmittersRCV001379687

NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)

SNV
Germline

Chr2:178554945

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1988138

rs_143193258

4 SubmittersRCV000462859 RCV002356645 RCV003139629 RCV002481381

NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)

SNV
Germline

Chr2:178561492

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988755

rs_72648221

16 SubmittersRCV000460291 RCV000513233 RCV001132534 RCV001132535 RCV001132536 RCV001132532 RCV001132533 RCV001280557 RCV002348267 RCV003150216

NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)

SNV
Germline

Chr2:178563198

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988998

rs_766522109

4 SubmittersRCV000474288 RCV000837484 RCV002348268

NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)

SNV
Germline

Chr2:178563448

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989029

rs_376616067

4 SubmittersRCV000473870 RCV000617756 RCV001712415

NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)

SNV
Germline

Chr2:178598918

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16610352

rs_1060500526

2 SubmittersRCV000458129 RCV003362790

NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)

SNV
Germline

Chr2:178584673

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991812

rs_376921740

4 SubmittersRCV000476119 RCV002350002 RCV003139672 RCV005404600

NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile)

SNV
Germline

Chr2:178601562

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993445

rs_559712998

2 SubmittersRCV000473727 RCV003227763

NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)

SNV
Germline

Chr2:178560012

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1988553

rs_754207859

7 SubmittersRCV000473090 RCV000768880 RCV002356643 RCV002473009 RCV004529582 RCV005404574

NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)

SNV
Germline

Chr2:178563115

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988986

rs_769343491

4 SubmittersRCV000458435 RCV000592875

NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)

SNV
Germline

Chr2:178613877

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994604

rs_72677245

8 SubmittersRCV000727401 RCV000596356 RCV001087387 RCV004533215

NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)

SNV
Germline

Chr2:178613926

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1994613

rs_200121902

8 SubmittersRCV000595403 RCV001085352 RCV002429571 RCV004735548 RCV005404598

NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys)

SNV
Germline

Chr2:178573966

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990536

rs_372662393

2 SubmittersRCV000468833 RCV001562366

NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)

SNV
Germline

Chr2:178593237

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992749

rs_200728232

6 SubmittersRCV000460883 RCV000591455 RCV002323680 RCV003330687

NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)

SNV
Germline

Chr2:178616746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994912

rs_749678590

6 SubmittersRCV000602940 RCV000714042 RCV001082188 RCV002418442

NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)

SNV
Germline

Chr2:178567047

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989527

rs_529839486

7 SubmittersRCV000457151 RCV001721495 RCV002339117 RCV002469152

NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)

SNV
Germline

Chr2:178568068

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989667

rs_374764110

5 SubmittersRCV000470057 RCV001696871 RCV001798821 RCV002348265

NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val)

SNV
Germline

Chr2:178616951

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994939

rs_780634456

4 SubmittersRCV000461103 RCV001131649 RCV001131650 RCV001131651 RCV001131652 RCV001131653 RCV001798825 RCV003139624

NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)

SNV
Germline

Chr2:178575487

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990755

rs_755669336

4 SubmittersRCV000473118 RCV001508110

NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)

SNV
Germline

Chr2:178576081

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610380

rs_1060500575

5 SubmittersRCV001376851 RCV003237348 RCV004022555 RCV004764927

NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)

SNV
Germline

Chr2:178578642

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991145

rs_534340303

3 SubmittersRCV000474985 RCV000765555 RCV000997414

NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=)

SNV
Germline

Chr2:178617328

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610381

rs_1060500551

2 SubmittersRCV000467681 RCV004678708

NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)

SNV
Germline

Chr2:178621502

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610383

rs_1060500405

4 SubmittersRCV000457096 RCV000788734 RCV004022552 RCV004764926

NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)

SNV
Germline

Chr2:178609289

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Centronuclear myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610384

rs_926741242

5 SubmittersRCV000459936 RCV003237347 RCV004586715 RCV005241324

NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)

SNV
Germline

Chr2:178580535

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991411

rs_745992545

4 SubmittersRCV000476086 RCV001696798 RCV002265767 RCV002374750

NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)

SNV
Germline

Chr2:178611379

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1994303

rs_200700386

7 SubmittersRCV000460440 RCV001560476 RCV002446775 RCV004533147 RCV006458365

NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)

SNV
Germline

Chr2:178633508

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA1996006

rs_368572799

7 SubmittersRCV000459308 RCV000714640 RCV000714639 RCV000765573 RCV000852527 RCV002402232 RCV003139609 RCV004732886

NM_001267550.2(TTN):c.66769+2T>A

SNV
Germline

Chr2:178581497

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610389

rs_1060500483

2 SubmittersRCV000473815 RCV004591290

NM_001267550.2(TTN):c.47269+2T>C

SNV
Germline

Chr2:178618187

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16610398

rs_1060500419

2 SubmittersRCV000786238 RCV001376736

NM_001267550.2(TTN):c.39818-9T>C

SNV
Germline

Chr2:178649903

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1996586

rs_368834130

4 SubmittersRCV000461057 RCV002466511 RCV002489096 RCV006458382

NM_001267550.2(TTN):c.39057G>C (p.Pro13019=)

SNV
Germline

Chr2:178652528

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1996879

rs_371945519

5 SubmittersRCV000474656 RCV001170387 RCV003437205 RCV004533149 RCV006458366

NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)

SNV
Germline

Chr2:178577084

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990959

rs_200191748

5 SubmittersRCV000476051 RCV002225617 RCV002329024

NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala)

SNV
Germline

Chr2:178599587

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610408

rs_964263107

2 SubmittersRCV000458117 RCV000829220

NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)

SNV
Germline

Chr2:178599730

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993298

rs_201091423

8 SubmittersRCV000469991 RCV001567130 RCV002436388 RCV005404575

NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)

SNV
Germline

Chr2:178602343

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993540

rs_553295928

7 SubmittersRCV000470556 RCV001662435 RCV002436476 RCV003437212

NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)

SNV
Germline

Chr2:178604051

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA16610415

rs_397517620

4 SubmittersRCV000464314 RCV001134520 RCV001134516 RCV001134517 RCV001134518 RCV001134519 RCV002436475 RCV003235232

NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu)

SNV
Germline

Chr2:178651740

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996729

rs_370520319

3 SubmittersRCV000476316 RCV001136297 RCV001136298 RCV001129313 RCV001136299 RCV001129314 RCV001547905

NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val)

SNV
Germline

Chr2:178605654

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993760

rs_771801125

2 SubmittersRCV000463234 RCV003486847

NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)

SNV
Germline

Chr2:178607427

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993835

rs_749312983

5 SubmittersRCV000595322 RCV001087627

NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)

SNV
Germline

Chr2:178677272

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998092

rs_568554504

5 SubmittersRCV000474897 RCV001289367 RCV001729599

NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)

SNV
Germline

Chr2:178611092

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610437

rs_1060500500

1 SubmittersRCV000471106

NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln)

SNV
Germline

Chr2:178592876

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1992696

rs_142791877

4 SubmittersRCV000465375 RCV000734426 RCV003150217 RCV006650130

NM_001267550.2(TTN):c.37029A>G (p.Pro12343=)

SNV
Germline

Chr2:178662348

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610440

rs_200163049

5 SubmittersRCV000477492 RCV001528798

NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)

SNV
Germline

Chr2:178663876

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1997504

rs_368607833

4 SubmittersRCV000474800 RCV002502609 RCV004722765 RCV005404576

NM_001267550.2(TTN):c.34695G>A (p.Val11565=)

SNV
Germline

Chr2:178674327

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998010

rs_372341590

2 SubmittersRCV000459477 RCV001551592

NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys)

SNV
Germline

Chr2:178678798

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA16610452

rs_1060500563

2 SubmittersRCV000468653 RCV005404581

NM_001267550.2(TTN):c.25971A>T (p.Gly8657=)

SNV
Germline

Chr2:178715215

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA16610462

rs_1060500547

2 SubmittersRCV000463225 RCV005404578

NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)

SNV
Germline

Chr2:178621668

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16610464

rs_1060500487

3 SubmittersRCV000465555 RCV001547474 RCV002402234

NM_001267550.2(TTN):c.44916T>A (p.Val14972=)

SNV
Germline

Chr2:178622006

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1995533

rs_373390402

4 SubmittersRCV000456971 RCV002307510 RCV002402308 RCV002475899

NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)

SNV
Germline

Chr2:178622735

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995551

rs_571524382

4 SubmittersRCV000464001 RCV001571115 RCV004735532

NM_001267550.2(TTN):c.30433+2T>G

SNV
Germline

Chr2:178702452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610469

rs_1060500504

1 SubmittersRCV000459679

NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)

SNV
Germline

Chr2:178632392

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1995842

rs_115825044

9 SubmittersRCV000725627 RCV000619085 RCV001083684 RCV003150215 RCV006650129

NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)

SNV
Germline

Chr2:178718350

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000366

rs_764248656

5 SubmittersRCV000473976 RCV001133195 RCV001133196 RCV001133197 RCV001134654 RCV001134655 RCV001562414 RCV006650145

NM_001267550.2(TTN):c.21404-8C>G

SNV
Germline

Chr2:178723704

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001025

rs_761542135

2 SubmittersRCV000476073 RCV000997533

NM_001267550.2(TTN):c.19714+1G>T

SNV
Germline

Chr2:178728109

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610480

rs_1060500423

1 SubmittersRCV000462935

NM_001267550.2(TTN):c.41745G>A (p.Ala13915=)

SNV
Germline

Chr2:178635579

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996213

rs_780790022

2 SubmittersRCV000462357 RCV004022553

NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)

SNV
Germline

Chr2:178612920

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1994514

rs_773271774

7 SubmittersRCV000477328 RCV000714045 RCV000764334 RCV002446774 RCV005621948

NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)

SNV
Germline

Chr2:178714493

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000037

rs_369385294

8 SubmittersRCV000477213 RCV000734660 RCV001805061

NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)

SNV
Germline

Chr2:178724484

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001117

rs_765257439

3 SubmittersRCV000458994 RCV002489005 RCV003486844

NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)

SNV
Germline

Chr2:178633519

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996010

rs_760643071

4 SubmittersRCV000463928 RCV000604586 RCV000714032

NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)

SNV
Germline

Chr2:178729002

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001483

rs_537966944

4 SubmittersRCV000473632 RCV001576394 RCV002271500

NM_001267550.2(TTN):c.9163+1G>C

SNV
Germline

Chr2:178768672

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive TTN-related disorders

Criteria Provided
Conflicting Classifications

CA16610513

rs_1060500549

6 SubmittersRCV000470325 RCV000490775 RCV001836820 RCV004022554 RCV006704690 RCV006699263

NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)

SNV
Germline

Chr2:178731538

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001876

rs_753892271

4 SubmittersRCV000726638 RCV001088591 RCV004533210

NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys)

SNV
Germline

Chr2:178776192

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005148

rs_547305291

2 SubmittersRCV000470708 RCV001545910

NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)

SNV
Germline

Chr2:178777893

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005344

rs_139636676

5 SubmittersRCV000472530 RCV000594052 RCV002329026

NM_001267550.2(TTN):c.15496+1G>T

SNV
Germline

Chr2:178734327

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related myopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610517

rs_397517481

5 SubmittersRCV001330277 RCV001376850 RCV003883495 RCV004787710 RCV004813098

NM_001267550.2(TTN):c.33742+1G>T

SNV
Germline

Chr2:178679338

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tip-toe gait
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1998256

rs_772114165

4 SubmittersRCV000462106 RCV000593203 RCV002226463 RCV006268779

NM_001267550.2(TTN):c.3101-2A>T

SNV
Germline

Chr2:178782604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610518

rs_1060500467

1 SubmittersRCV000462265

NM_001267550.2(TTN):c.33366C>T (p.Val11122=)

SNV
Germline

Chr2:178680306

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610521

rs_878915517

2 SubmittersRCV000595323 RCV001084640

NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)

SNV
Germline

Chr2:178689127

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998764

rs_762662455

3 SubmittersRCV000469985 RCV001731685

NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)

SNV
Germline

Chr2:178741378

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002797

rs_779033634

3 SubmittersRCV000476028 RCV002418352 RCV003480635

NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)

SNV
Germline

Chr2:178792094

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006003

rs_774937703

4 SubmittersRCV000457214 RCV001530755 RCV006650128

NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)

SNV
Germline

Chr2:178694635

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998969

rs_374555701

6 SubmittersRCV000462032 RCV001129211 RCV001129212 RCV001131900 RCV001131901 RCV001129213 RCV001569574 RCV005899433

NM_001267550.2(TTN):c.34612+1G>A

SNV
Germline

Chr2:178675038

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1998034

rs_577363824

4 SubmittersRCV000473977 RCV000502600 RCV005239017 RCV005400726

NM_001267550.2(TTN):c.33995-5T>C

SNV
Germline

Chr2:178677922

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998161

rs_774359312

2 SubmittersRCV001438969 RCV004777679

NM_001267550.2(TTN):c.32025T>C (p.Pro10675=)

SNV
Germline

Chr2:178689123

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610537

rs_369365087

2 SubmittersRCV000730357 RCV001078918

NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)

SNV
Germline

Chr2:178711099

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610538

rs_1060500516

6 SubmittersRCV000474554 RCV000769902 RCV000997518

NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val)

SNV
Germline

Chr2:178768931

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004477

rs_764394936

2 SubmittersRCV000456943 RCV001584131

NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)

SNV
Germline

Chr2:178709675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999557

rs_376744914

8 SubmittersRCV000596216 RCV000726672 RCV001088456

NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)

SNV
Germline

Chr2:178714445

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000027

rs_376823283

9 SubmittersRCV000468492 RCV000517916 RCV000852886 RCV001572975

NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)

SNV
Germline

Chr2:178773554

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004801

rs_369559000

4 SubmittersRCV000475387 RCV001170104 RCV001551797 RCV002379416

NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys)

SNV
Germline

Chr2:178776283

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005162

rs_532733393

2 SubmittersRCV000462788 RCV001550296

NM_001267550.2(TTN):c.919G>A (p.Val307Met)

SNV
Germline

Chr2:178795248

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006172

rs_371056974

3 SubmittersRCV000462708 RCV001653822

NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)

SNV
Germline

Chr2:178719345

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610578

rs_1060503946

3 SubmittersRCV000734534 RCV001479953

NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)

SNV
Germline

Chr2:178732511

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002023

rs_769165258

4 SubmittersRCV000464192 RCV001561236 RCV001527012

NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp)

SNV
Germline

Chr2:178720199

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000625

rs_528264100

3 SubmittersRCV000473099 RCV003486845 RCV003480632

NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)

SNV
Germline

Chr2:178735910

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002382

rs_752150323

7 SubmittersRCV000467209 RCV000769087 RCV001335354 RCV001591064 RCV005239020

NM_001267550.2(TTN):c.16903+2T>C

SNV
Germline

Chr2:178732064

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610599

rs_1060500574

1 SubmittersRCV000465575

NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)

SNV
Germline

Chr2:178775701

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005092

rs_763733251

2 SubmittersRCV000458669 RCV003139673

NM_001267550.2(TTN):c.13048G>A (p.Val4350Met)

SNV
Germline

Chr2:178740185

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002633

rs_781206839

3 SubmittersRCV000466618 RCV000613800 RCV004567953

NM_001267550.2(TTN):c.10303+2T>C

SNV
Germline

Chr2:178758982

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2004144

rs_371596417

10 SubmittersRCV000459587 RCV000619220 RCV000733858 RCV001798822 RCV005250052 RCV006741263

NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)

SNV
Germline

Chr2:178773717

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004824

rs_779064962

6 SubmittersRCV000461292 RCV000605368 RCV000727780 RCV002374749

NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)

SNV
Germline

Chr2:178780121

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005517

rs_564353179

7 SubmittersRCV000474791 RCV001662420 RCV002460076 RCV003139641

NM_001267550.2(TTN):c.185G>A (p.Arg62His)

SNV
Germline

Chr2:178802248

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006397

rs_758169489

3 SubmittersRCV000468764 RCV001137836 RCV001140072 RCV001140073 RCV001140070 RCV001140071 RCV005641629

NM_001267550.2(TTN):c.107377+5G>A

SNV
Germline

Chr2:178528269

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1984962

rs_780526209

2 SubmittersRCV000484970 RCV005222961

NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)

SNV
Germline

Chr2:178536160

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
TTN-related disorder
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16617330

rs_1064793560

8 SubmittersRCV000482118 RCV000548615 RCV002383911 RCV002506161 RCV003147476 RCV003147477 RCV003147473 RCV003147475 RCV003147472 RCV003147474 RCV004535499 RCV006690530

NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter)

SNV
Germline

Chr2:178537705

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16617331

rs_1064794982

1 SubmittersRCV000479627

NM_001267550.2(TTN):c.95032T>G (p.Cys31678Gly)

SNV
Germline

Chr2:178546299

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16617336

rs_2555818

1 SubmittersRCV000485162

NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)

SNV
Germline

Chr2:178558419

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1988388

rs_776065839

9 SubmittersRCV000480710 RCV001390945 RCV001731710 RCV002356779

NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)

SNV
Germline

Chr2:178559769

Pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16617341

rs_1064793814

3 SubmittersRCV000482062 RCV000825632 RCV001851162

NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)

SNV
Germline

Chr2:178566339

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16617346

rs_1064794023

2 SubmittersRCV000479175 RCV001220393

NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)

SNV
Germline

Chr2:178566529

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617347

rs_1064793911

4 SubmittersRCV000482113 RCV001851164 RCV002341131 RCV004764929

NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)

SNV
Germline

Chr2:178567728

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16617350

rs_1064793668

3 SubmittersRCV000484371 RCV001037089 RCV002350056

NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)

SNV
Germline

Chr2:178569854

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16617351

rs_1064794060

2 SubmittersRCV000481430 RCV003766674

NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter)

SNV
Germline

Chr2:178571051

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16617352

rs_1064794930

2 SubmittersRCV000480801 RCV006556052

NM_001267550.2(TTN):c.66767T>G (p.Leu22256Ter)

SNV
Germline

Chr2:178581501

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16617363

rs_1064794716

1 SubmittersRCV000479098

NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter)

SNV
Germline

Chr2:178591350

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16617367

rs_1064796977

2 SubmittersRCV000480169 RCV005213299

NM_001267550.2(TTN):c.53287+1G>T

SNV
Germline

Chr2:178607400

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16617371

rs_1064794266

2 SubmittersRCV000483642 RCV004023136

NM_001267550.2(TTN):c.46696+1G>A

SNV
Germline

Chr2:178619620

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA16617375

rs_1064796987

2 SubmittersRCV000485102 RCV006556065

NM_001267550.2(TTN):c.13360G>T (p.Glu4454Ter)

SNV
Germline

Chr2:178739873

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16617383

rs_1064796783

2 SubmittersRCV000485431 RCV006699270

NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)

SNV
Germline

Chr2:178740116

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16617384

rs_1064793411

4 SubmittersRCV000485482 RCV000688910 RCV002350054

NM_001267550.2(TTN):c.54401A>G (p.Asn18134Ser)

SNV
Germline

Chr2:178604286

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16621779

rs_971483896

2 SubmittersRCV000487631 RCV006650163

NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp)

SNV
Germline

Chr2:178702187

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16621781

rs_1064797276

4 SubmittersRCV000488373 RCV003486852

NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln)

SNV
Germline

Chr2:178751556

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2003835

rs_747054427

3 SubmittersRCV000487756 RCV002481543 RCV005404615

NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter)

SNV
Germline

Chr2:178562076

Likely pathogenic

Condition: not provided
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349562639

rs_769665204

2 SubmittersRCV000490001 RCV000769922

NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)

SNV
Germline

Chr2:178591842

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349488139

rs_1085307825

4 SubmittersRCV000489435 RCV002446954 RCV002527035 RCV006249641

NM_001267550.2(TTN):c.99712C>T (p.Gln33238Ter)

SNV
Germline

Chr2:178537495

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349427624

rs_1131691383

1 SubmittersRCV000493572

NM_001267550.2(TTN):c.89197+1G>C

SNV
Germline

Chr2:178553913

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349520239

rs_1131691873

5 SubmittersRCV000493724 RCV000617501 RCV001206208 RCV001280576

NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)

SNV
Germline

Chr2:178566991

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349599445

rs_1131691944

5 SubmittersRCV000493413 RCV000642795

NM_001267550.2(TTN):c.73504G>T (p.Glu24502Ter)

SNV
Germline

Chr2:178572628

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349638828

rs_1131691543

1 SubmittersRCV000494574

NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter)

SNV
Germline

Chr2:178580015

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349424114

rs_747377194

2 SubmittersRCV000493001 RCV006556092

NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter)

SNV
Germline

Chr2:178582141

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349429589

rs_1131692031

2 SubmittersRCV000494471 RCV005213307

NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)

SNV
Germline

Chr2:178605696

Pathogenic/Likely pathogenic

6 conditions
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349562547

rs_1131691381

4 SubmittersRCV002506192 RCV002431436 RCV000494093 RCV000685316

NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)

SNV
Germline

Chr2:178609769

Pathogenic

Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349583453

rs_1131691655

2 SubmittersRCV000494626 RCV000845452

NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)

SNV
Germline

Chr2:178619708

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349623212

rs_1131691528

2 SubmittersRCV000493509 RCV003766775

NM_001267550.2(TTN):c.14999G>A (p.Arg5000His)

SNV
Germline

Chr2:178734925

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2002304

rs_377062348

5 SubmittersRCV000494029 RCV000551993 RCV005418167

NM_001267550.2(TTN):c.12517G>T (p.Glu4173Ter)

SNV
Germline

Chr2:178740716

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349614786

rs_1131691288

2 SubmittersRCV000727393

NM_001267550.2(TTN):c.3414A>G (p.Glu1138=)

SNV
Germline

Chr2:178781230

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005554

rs_777365068

2 SubmittersRCV000494592 RCV002446961

NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter)

SNV
Germline

Chr2:178535688

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349422395

rs_1553500506

1 SubmittersRCV000497701

NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)

SNV
Germline

Chr2:178547845

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349480887

rs_1553528016

4 SubmittersRCV000497363 RCV002524077 RCV004992282

NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)

SNV
Germline

Chr2:178570663

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349625004

rs_1553603394

3 SubmittersRCV000497570 RCV001044433

NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)

SNV
Germline

Chr2:178576968

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349668893

rs_1553616431

2 SubmittersRCV000497760 RCV006556104

NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)

SNV
Germline

Chr2:178594198

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992898

rs_768073446

5 SubmittersRCV000497418 RCV000663408 RCV001049350 RCV001798861 RCV005404623

NM_001267550.2(TTN):c.53881+5G>T

SNV
Germline

Chr2:178605409

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA645372702

rs_753527304

4 SubmittersRCV000498199 RCV000803733 RCV002455957 RCV004003496

NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter)

SNV
Germline

Chr2:178611610

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349595023

rs_1553696411

1 SubmittersRCV000498469

NM_001267550.2(TTN):c.42946+1G>T

SNV
Germline

Chr2:178633412

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349653156

rs_1553741531

2 SubmittersRCV000498935 RCV001248235

NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)

SNV
Germline

Chr2:178717177

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA2000195

rs_372320172

5 SubmittersRCV000726497 RCV002506205

NM_001267550.2(TTN):c.17079C>T (p.Ser5693=)

SNV
Germline

Chr2:178731796

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001919

rs_372588069

3 SubmittersRCV000557763 RCV000727517

NM_001267550.2(TTN):c.15775+1G>A

SNV
Germline

Chr2:178733613

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349590585

rs_1353528319

3 SubmittersRCV000498576 RCV002524069 RCV005239096

NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)

SNV
Germline

Chr2:178775179

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349682613

rs_1193046655

4 SubmittersRCV000497670 RCV001851386 RCV002356817 RCV003327408

NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)

SNV
Germline

Chr2:178559992

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988548

rs_532818379

6 SubmittersRCV000503192 RCV000553043 RCV000732209

NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)

SNV
Germline

Chr2:178570674

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990049

rs_368058280

5 SubmittersRCV000501746 RCV003139707

NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)

SNV
Germline

Chr2:178589046

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992193

rs_188059075

4 SubmittersRCV000499867 RCV000643358 RCV001134122 RCV001134123 RCV001134120 RCV001134119 RCV001134121 RCV002455975

NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)

SNV
Germline

Chr2:178652107

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1996794

rs_770419196

4 SubmittersRCV000500523 RCV000765577

NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)

SNV
Germline

Chr2:178725571

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001177

rs_752107739

4 SubmittersRCV000499942 RCV003139708

NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)

SNV
Germline

Chr2:178773181

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004754

rs_760786665

6 SubmittersRCV000501863 RCV001170101 RCV001541554

NM_001267550.2(TTN):c.27994G>A (p.Val9332Met)

SNV
Germline

Chr2:178711242

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA1999678

rs_367734747

4 SubmittersRCV000508163 RCV001130354 RCV001130355 RCV001130356 RCV001130357 RCV001130358 RCV002481644

NM_001267550.2(TTN):c.83902C>T (p.Pro27968Ser)

SNV
Germline

Chr2:178562230

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988856

rs_541254027

3 SubmittersRCV000513927 RCV005404630

NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)

SNV
Germline

Chr2:178570586

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349622093

rs_1553603152

3 SubmittersRCV000515731 RCV000850282 RCV002527445

NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)

SNV
Germline

Chr2:178587200

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Multiple Submitters
No Conflicts

CA349446699

rs_1553636324

4 SubmittersRCV000515670 RCV000695044 RCV002350135 RCV004771476

NM_001267550.2(TTN):c.106375-2A>G

SNV
Germline

Chr2:178530118

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349405662

rs_1553482872

5 SubmittersRCV000517317 RCV000985108 RCV004527388

NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)

SNV
Germline

Chr2:178534725

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985826

rs_779064623

5 SubmittersRCV000516320 RCV000834759 RCV001131356 RCV001131355 RCV001134357 RCV001134358 RCV001134359 RCV002395240

NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)

SNV
Germline

Chr2:178544006

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986814

rs_368154623

7 SubmittersRCV000518399 RCV000734454 RCV001088427 RCV002367721 RCV004537865

NM_001267550.2(TTN):c.95798C>T (p.Pro31933Leu)

SNV
Germline

Chr2:178544431

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349457475

rs_769829272

2 SubmittersRCV000517505 RCV003486855

NM_001267550.2(TTN):c.92226G>A (p.Arg30742=)

SNV
Germline

Chr2:178549400

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987468

rs_759484932

3 SubmittersRCV000517830 RCV001506182 RCV004023530

NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)

SNV
Germline

Chr2:178556908

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988182

rs_755325663

5 SubmittersRCV000517221 RCV000643542

NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)

SNV
Germline

Chr2:178561929

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988809

rs_72648219

7 SubmittersRCV000534861 RCV000710278 RCV002350143 RCV005404632

NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln)

SNV
Germline

Chr2:178571586

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990182

rs_745488276

3 SubmittersRCV000518155 RCV001591175

NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)

SNV
Germline

Chr2:178575226

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990707

rs_189208539

7 SubmittersRCV000516712 RCV000831396 RCV001133459 RCV001134963 RCV001134965 RCV001133460 RCV001134964 RCV002329228

NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)

SNV
Germline

Chr2:178589179

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992213

rs_372685222

5 SubmittersRCV000516867 RCV000538004 RCV003139728

NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)

SNV
Germline

Chr2:178594202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60971875

rs_370091658

6 SubmittersRCV000518231 RCV000727307 RCV001435776 RCV002323883

NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)

SNV
Germline

Chr2:178609349

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994088

rs_752764827

5 SubmittersRCV000516215 RCV000725371 RCV002448563 RCV003150252

NM_001267550.2(TTN):c.50355-5A>G

SNV
Germline

Chr2:178611959

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA658657159

rs_1553697218

2 SubmittersRCV000517923 RCV003766937

NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)

SNV
Germline

Chr2:178617327

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994992

rs_775513269

5 SubmittersRCV000517781 RCV000550143 RCV000617706 RCV000786258

NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)

SNV
Germline

Chr2:178629302

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995649

rs_374419129

7 SubmittersRCV000517345 RCV000552677 RCV001171012 RCV002404335 RCV005632446

NM_001267550.2(TTN):c.44157T>C (p.Asp14719=)

SNV
Germline

Chr2:178630365

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995731

rs_760908766

4 SubmittersRCV000516413 RCV001467045 RCV003362811

NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)

SNV
Germline

Chr2:178632691

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995898

rs_200914097

5 SubmittersRCV000517260 RCV000530176 RCV000729420 RCV002404334

NM_001267550.2(TTN):c.36044C>T (p.Thr12015Met)

SNV
Germline

Chr2:178664926

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997671

rs_199868380

2 SubmittersRCV000516512 RCV002263723

NM_001267550.2(TTN):c.31927+1G>T

SNV
Germline

Chr2:178689514

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349556230

rs_1553852989

2 SubmittersRCV000516303 RCV002525103

NM_001267550.2(TTN):c.30754+1G>T

SNV
Germline

Chr2:178698842

Conflicting classifications of pathogenicity

not specified
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60993595

rs_914288774

3 SubmittersRCV000517753 RCV002481688 RCV002525102

NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)

SNV
Germline

Chr2:178723222

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000953

rs_200954184

5 SubmittersRCV000517328 RCV000525218

NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)

SNV
Germline

Chr2:178729501

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001565

rs_72648948

6 SubmittersRCV000518701 RCV000556938 RCV000726124

NM_001267550.2(TTN):c.2742G>T (p.Glu914Asp)

SNV
Germline

Chr2:178784103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60982426

rs_145735907

3 SubmittersRCV000516200 RCV003139724 RCV003486854

NM_001267550.2(TTN):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr2:178799860

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349524918

rs_1554042042

1 SubmittersRCV000516964

NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)

SNV
Germline

Chr2:178546323

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349467635

rs_1322596650

8 SubmittersRCV000519781 RCV001858015 RCV003150256 RCV004735593 RCV005252946 RCV004992302

NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)

SNV
Germline

Chr2:178547709

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987228

rs_555405542

4 SubmittersRCV000539776 RCV000733004

NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)

SNV
Germline

Chr2:178552530

Pathogenic/Likely pathogenic

Condition: not provided
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349511395

rs_1553539995

4 SubmittersRCV000522951 RCV001778991 RCV003237349 RCV003766961

NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter)

SNV
Germline

Chr2:178563782

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349573978

rs_1060503941

1 SubmittersRCV000524068

NM_001267550.2(TTN):c.80452G>T (p.Glu26818Ter)

SNV
Germline

Chr2:178565680

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349588714

rs_1553583434

2 SubmittersRCV000518949

NM_001267550.2(TTN):c.64123G>A (p.Val21375Met)

SNV
Germline

Chr2:178586778

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1991948

rs_371670651

2 SubmittersRCV001707720 RCV005027611

NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)

SNV
Germline

Chr2:178602066

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993520

rs_776899398

4 SubmittersRCV000520206 RCV000691773 RCV002438261

NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)

SNV
Germline

Chr2:178617387

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1995003

rs_772625773

3 SubmittersRCV000520795 RCV000643535 RCV001336909

NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)

SNV
Germline

Chr2:178632990

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349652181

rs_754568652

3 SubmittersRCV000523057 RCV001036879 RCV002404354

NM_001267550.2(TTN):c.30511+1G>C

SNV
Germline

Chr2:178702167

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA60997603

rs_879082842

3 SubmittersRCV000520831 RCV001857989 RCV002481714

NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)

SNV
Germline

Chr2:178741320

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Dilated and arrhythmogenic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349618353

rs_749961489

4 SubmittersRCV001368902 RCV003150257 RCV004719089 RCV006650186

NM_001267550.2(TTN):c.107292A>G (p.Ala35764=)

SNV
Germline

Chr2:178528359

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430234558

rs_1553479171

2 SubmittersRCV000558011 RCV000786250

NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)

SNV
Germline

Chr2:178528628

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60950183

rs_71423567

6 SubmittersRCV000556516 RCV000769839 RCV004735603 RCV005027645 RCV005404651 RCV005252963

NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)

SNV
Germline

Chr2:178532843

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985546

rs_778021095

4 SubmittersRCV000532155 RCV000839060 RCV005404646

NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)

SNV
Germline

Chr2:178533400

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60957462

rs_748516187

3 SubmittersRCV000533957 RCV000733731 RCV002395400

NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)

SNV
Germline

Chr2:178547018

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
See cases
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1987126

rs_375657115

9 SubmittersRCV000560368 RCV000618293 RCV000993510 RCV002252162 RCV001798890 RCV003227786 RCV005404673

NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)

SNV
Germline

Chr2:178531007

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1985231

rs_771136390

7 SubmittersRCV000526551 RCV000593816 RCV005398807

NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)

SNV
Germline

Chr2:178560116

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547000

rs_1553562022

1 SubmittersRCV000550796

NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)

SNV
Germline

Chr2:178564485

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989175

rs_371910831

4 SubmittersRCV000554115 RCV002506349 RCV003486872 RCV003139830

NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile)

SNV
Germline

Chr2:178565686

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989345

rs_774092000

2 SubmittersRCV000546478 RCV001568704

NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)

SNV
Germline

Chr2:178548085

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349482402

rs_1243301263

2 SubmittersRCV000554078 RCV001798880

NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)

SNV
Germline

Chr2:178567139

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989539

rs_745659756

4 SubmittersRCV000594055 RCV001078631 RCV002341357 RCV005404669

NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro)

SNV
Germline

Chr2:178550196

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1987582

rs_369043548

3 SubmittersRCV000553707 RCV005632479 RCV006650230

NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)

SNV
Germline

Chr2:178567218

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989553

rs_199646089

6 SubmittersRCV000547535 RCV000594551 RCV002341356 RCV002476171 RCV003330778 RCV004735608

NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)

SNV
Germline

Chr2:178531202

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985265

rs_771741670

5 SubmittersRCV000536908 RCV001722486 RCV005404648

NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)

SNV
Germline

Chr2:178553740

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA349519683

rs_1179247052

4 SubmittersRCV000541321 RCV002367859 RCV003114664 RCV002497135

NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)

SNV
Germline

Chr2:178568806

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349611184

rs_1553600058

1 SubmittersRCV001378783

NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)

SNV
Germline

Chr2:178529147

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985065

rs_368179478

4 SubmittersRCV000540970 RCV000592815 RCV002420448

NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)

SNV
Germline

Chr2:178530695

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985188

rs_780629996

4 SubmittersRCV000531836 RCV000830759 RCV004537977

NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)

SNV
Germline

Chr2:178570873

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990080

rs_759110420

8 SubmittersRCV000543490 RCV000733724 RCV002341351

NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)

SNV
Germline

Chr2:178558458

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988393

rs_750591986

4 SubmittersRCV000547526 RCV001662563

NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)

SNV
Germline

Chr2:178571272

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990134

rs_202191466

4 SubmittersRCV000550865 RCV000841632 RCV005896823

NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)

SNV
Germline

Chr2:178571793

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990209

rs_776673912

5 SubmittersRCV000555738 RCV001129087 RCV001131757 RCV001131755 RCV001131754 RCV001131756 RCV002476169 RCV003139825 RCV005404666

NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)

SNV
Germline

Chr2:178534092

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1985742

rs_752697861

7 SubmittersRCV000534053 RCV003302825 RCV004764933 RCV004735598

NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr)

SNV
Germline

Chr2:178572813

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990381

rs_370931683

3 SubmittersRCV000540170 RCV001572517 RCV002341347

NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln)

SNV
Germline

Chr2:178539513

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986358

rs_775915301

2 SubmittersRCV000548812 RCV001568591

NM_001267550.2(TTN):c.98119G>C (p.Asp32707His)

SNV
Germline

Chr2:178539946

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349434738

rs_1307768306

3 SubmittersRCV000535737 RCV002225655

NM_001267550.2(TTN):c.96904+1G>A

SNV
Germline

Chr2:178543068

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349444554

rs_1553517092

3 SubmittersRCV001377466 RCV002367860 RCV003994008

NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn)

SNV
Germline

Chr2:178564587

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989192

rs_373448447

3 SubmittersRCV000542811 RCV001565833

NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)

SNV
Germline

Chr2:178536363

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986039

rs_748104690

4 SubmittersRCV000535926 RCV000595704

NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala)

SNV
Germline

Chr2:178564615

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989199

rs_754325718

4 SubmittersRCV000532629 RCV000620567 RCV005404670

NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)

SNV
Germline

Chr2:178537004

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349426757

rs_1553503201

1 SubmittersRCV001378158

NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)

SNV
Germline

Chr2:178546268

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349466946

rs_794729538

1 SubmittersRCV001378680

NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)

SNV
Germline

Chr2:178579023

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991205

rs_755897447

4 SubmittersRCV000537353 RCV002491048 RCV003302842 RCV004541702

NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)

SNV
Germline

Chr2:178548303

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987318

rs_373732722

4 SubmittersRCV000541137 RCV000765541 RCV001554920

NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)

SNV
Germline

Chr2:178584726

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349436291

rs_1432889079

2 SubmittersRCV000541256 RCV000788718

NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)

SNV
Germline

Chr2:178587304

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992002

rs_372812312

10 SubmittersRCV000549166 RCV000593395 RCV001130771 RCV001133738 RCV001130770 RCV001133737 RCV001133736 RCV002456151 RCV002282219

NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)

SNV
Germline

Chr2:178554897

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349526686

rs_1436663696

1 SubmittersRCV001377726

NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)

SNV
Germline

Chr2:178554946

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988139

rs_372360369

6 SubmittersRCV000559910 RCV000733570 RCV000765550 RCV002358527 RCV005404672

NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)

SNV
Germline

Chr2:178569330

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989858

rs_374913031

4 SubmittersRCV000533551 RCV001563336 RCV002341354

NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)

SNV
Germline

Chr2:178548372

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987332

rs_549841864

3 SubmittersRCV000591905 RCV001087664 RCV002367867

NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp)

SNV
Germline

Chr2:178557048

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988201

rs_55898359

2 SubmittersRCV000558081 RCV001570517

NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)

SNV
Germline

Chr2:178559706

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349543885

rs_1553560951

3 SubmittersRCV000526787 RCV002506341 RCV003302840

NM_001267550.2(TTN):c.62703A>G (p.Leu20901=)

SNV
Germline

Chr2:178589022

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992189

rs_749180542

4 SubmittersRCV000525012 RCV001131159 RCV001131160 RCV001134117 RCV001134118 RCV001131161 RCV001722493 RCV002456149

NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)

SNV
Germline

Chr2:178560179

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984297

rs_546573613

7 SubmittersRCV000535412 RCV000609956 RCV000732255 RCV001170547 RCV003159839

NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)

SNV
Germline

Chr2:178553710

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987948

rs_375374658

4 SubmittersRCV000596681 RCV000726669 RCV002526151 RCV003343910

NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)

SNV
Germline

Chr2:178593045

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992720

rs_771977738

3 SubmittersRCV000553967 RCV000828415

NM_001267550.2(TTN):c.88306+8T>C

SNV
Germline

Chr2:178556840

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988172

rs_369690199

5 SubmittersRCV000727332 RCV000591787 RCV001257071

NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)

SNV
Germline

Chr2:178557042

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988198

rs_767890385

7 SubmittersRCV000531701 RCV000609858 RCV001507588 RCV002358524

NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)

SNV
Germline

Chr2:178562787

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349568154

rs_769862471

1 SubmittersRCV001377930

NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn)

SNV
Germline

Chr2:178563100

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988984

rs_781128731

2 SubmittersRCV000547342 RCV001584290

NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)

SNV
Germline

Chr2:178593830

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992846

rs_374118468

7 SubmittersRCV000536342 RCV000619409 RCV001311243 RCV001798886

NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)

SNV
Germline

Chr2:178557704

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988285

rs_749606240

3 SubmittersRCV000555058 RCV001132854 RCV001136270 RCV001136267 RCV001136269 RCV001136268 RCV003139832

NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)

SNV
Germline

Chr2:178558623

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988422

rs_748587720

3 SubmittersRCV000548767 RCV001584291

NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)

SNV
Germline

Chr2:178577354

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991008

rs_183056142

6 SubmittersRCV000538225 RCV000601528 RCV001130429 RCV001131146 RCV001131147 RCV001131148 RCV001131149 RCV002330890 RCV005632474

NM_001267550.2(TTN):c.54194G>A (p.Arg18065His)

SNV
Germline

Chr2:178604895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified

Criteria Provided
Conflicting Classifications

CA1993667

rs_375895183

4 SubmittersRCV000546800 RCV000834832 RCV001136060 RCV001136061 RCV001136062 RCV001136063 RCV001136064 RCV006650227

NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)

SNV
Germline

Chr2:178605110

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349556213

rs_1553682168

3 SubmittersRCV001388242 RCV002438392 RCV003314612

NM_001267550.2(TTN):c.85428A>G (p.Gln28476=)

SNV
Germline

Chr2:178560704

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984697

rs_777939514

3 SubmittersRCV000559704 RCV003222029 RCV005298527

NM_001267550.2(TTN):c.51249C>A (p.Val17083=)

SNV
Germline

Chr2:178610277

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994228

rs_377342233

5 SubmittersRCV000727699 RCV001088974 RCV002448712

NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)

SNV
Germline

Chr2:178564189

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1989132

rs_373533040

2 SubmittersRCV001377020 RCV006270396

NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)

SNV
Germline

Chr2:178565670

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989341

rs_200489046

5 SubmittersRCV000552086 RCV000619182 RCV000769933 RCV000828890

NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)

SNV
Germline

Chr2:178566838

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1989495

rs_774411587

2 SubmittersRCV000537733 RCV002350284

NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)

SNV
Germline

Chr2:178566881

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989500

rs_369019463

4 SubmittersRCV000525632 RCV000768915 RCV001591240

NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr)

SNV
Germline

Chr2:178567701

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1989604

rs_183015944

4 SubmittersRCV000556034 RCV000836314 RCV001134958 RCV001134959 RCV001134960 RCV001134961 RCV001134962 RCV005404668

NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)

SNV
Germline

Chr2:178568383

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989717

rs_370137092

8 SubmittersRCV000548592 RCV000768919 RCV001130054 RCV001130055 RCV001130056 RCV001130057 RCV001130058 RCV001555582 RCV005404667

NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)

SNV
Germline

Chr2:178615389

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994792

rs_377563403

4 SubmittersRCV000547316 RCV000764337 RCV001764572

NM_001267550.2(TTN):c.66161-1G>C

SNV
Germline

Chr2:178582209

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349429741

rs_1553627403

5 SubmittersRCV000528310 RCV002060327 RCV002491025 RCV006249651

NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)

SNV
Germline

Chr2:178574832

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1990652

rs_370516890

7 SubmittersRCV000533920 RCV000837055 RCV001798888 RCV005435011

NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)

SNV
Germline

Chr2:178575130

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349659824

rs_1553612321

1 SubmittersRCV000542475

NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)

SNV
Germline

Chr2:178569522

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989884

rs_561977468

6 SubmittersRCV000734884 RCV001079343 RCV001135501 RCV001135502 RCV001135503 RCV001135499 RCV001135500 RCV002341353

NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)

SNV
Germline

Chr2:178572615

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990358

rs_567446185

6 SubmittersRCV000528939 RCV000610035 RCV001131868 RCV001131869 RCV001131871 RCV001131870 RCV001131872 RCV001571924

NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)

SNV
Germline

Chr2:178619726

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995217

rs_761815745

7 SubmittersRCV000541917 RCV001564240 RCV002413549 RCV004767364

NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)

SNV
Germline

Chr2:178575154

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349659930

rs_1553612386

7 SubmittersRCV000530506 RCV002293451 RCV002330888 RCV006704764 RCV005409673

NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys)

SNV
Germline

Chr2:178580421

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991397

rs_772361876

2 SubmittersRCV000538703 RCV003486870

NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)

SNV
Germline

Chr2:178577392

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349670794

rs_1553617378

1 SubmittersRCV001379435

NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)

SNV
Germline

Chr2:178580077

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991353

rs_369257896

7 SubmittersRCV000532135 RCV001131635 RCV001131637 RCV001131639 RCV001131636 RCV001131638 RCV001170576 RCV001584289

NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)

SNV
Germline

Chr2:178581565

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991458

rs_751354601

7 SubmittersRCV000550774 RCV000607451 RCV000727753 RCV001170579 RCV002377097

NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)

SNV
Germline

Chr2:178589910

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992304

rs_761374262

4 SubmittersRCV000548488 RCV002460087 RCV005404665 RCV005632472

NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys)

SNV
Germline

Chr2:178582470

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991600

rs_577114038

5 SubmittersRCV000555810 RCV003150268 RCV003139820

NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)

SNV
Germline

Chr2:178583668

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991691

rs_372543748

5 SubmittersRCV000604026 RCV000727798 RCV001088565 RCV003159835

NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)

SNV
Germline

Chr2:178652529

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996880

rs_763845436

4 SubmittersRCV000536838 RCV000594353 RCV000852866

NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)

SNV
Germline

Chr2:178658746

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349484155

rs_1236045684

5 SubmittersRCV000549749 RCV000714021 RCV001293184 RCV004537984

NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)

SNV
Germline

Chr2:178589158

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992209

rs_373867080

5 SubmittersRCV000547486 RCV003139817 RCV002456147 RCV005418207

NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)

SNV
Germline

Chr2:178591278

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Single Submitter

CA349484513

rs_1553644047

2 SubmittersRCV000535768 RCV004537975

NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)

SNV
Germline

Chr2:178592531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992660

rs_376465623

8 SubmittersRCV000528644 RCV001174706 RCV001703197 RCV002448714 RCV002506347 RCV004537986

NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)

SNV
Germline

Chr2:178664069

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349499145

rs_1455879402

3 SubmittersRCV000540704 RCV002473054

NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)

SNV
Germline

Chr2:178667477

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1997758

rs_750832804

5 SubmittersRCV000532364 RCV001004945 RCV001785656 RCV005404658 RCV005252964

NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu)

SNV
Germline

Chr2:178670292

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1997854

rs_373508919

3 SubmittersRCV000553175 RCV001775864 RCV003486867

NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)

SNV
Germline

Chr2:178597700

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993056

rs_138367112

5 SubmittersRCV000527995 RCV001584288 RCV002438408 RCV003330776

NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile)

SNV
Germline

Chr2:178597712

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993058

rs_142841000

6 SubmittersRCV000549854 RCV000600882 RCV000852838 RCV002438407 RCV004799217 RCV006277887

NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)

SNV
Germline

Chr2:178598799

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993160

rs_373153121

4 SubmittersRCV000537662 RCV001563367 RCV002438405

NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)

SNV
Germline

Chr2:178593338

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349501189

rs_1553649171

9 SubmittersRCV000527865 RCV001093060 RCV001594397 RCV002323980

NM_001267550.2(TTN):c.55107C>T (p.Ala18369=)

SNV
Germline

Chr2:178602295

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430269250

rs_1316618431

2 SubmittersRCV000541115 RCV000727944

NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)

SNV
Germline

Chr2:178604775

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993654

rs_760383112

5 SubmittersRCV000535805 RCV000731131 RCV003486868

NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)

SNV
Germline

Chr2:178598750

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993148

rs_373351577

6 SubmittersRCV000558569 RCV000596680 RCV002438406 RCV005404663

NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)

SNV
Germline

Chr2:178598826

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA60975146

rs_556286196

7 SubmittersRCV000559374 RCV000756856 RCV001798885 RCV005239179

NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)

SNV
Germline

Chr2:178599442

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993265

rs_771284532

11 SubmittersRCV000555385 RCV000597681 RCV000727403 RCV003150266

NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)

SNV
Germline

Chr2:178600916

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993349

rs_368350844

5 SubmittersRCV000550352 RCV001536689 RCV002438402 RCV005431753

NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)

SNV
Germline

Chr2:178600932

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1993353

rs_764985774

5 SubmittersRCV001376967 RCV002438393 RCV004017671 RCV006699290 RCV006690672

NM_001267550.2(TTN):c.54819G>A (p.Pro18273=)

SNV
Germline

Chr2:178602583

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993565

rs_373624715

3 SubmittersRCV000540767 RCV002438400 RCV005431752

NM_001267550.2(TTN):c.54812-1G>T

SNV
Germline

Chr2:178602591

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547316

rs_1416873295

1 SubmittersRCV001378254

NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)

SNV
Germline

Chr2:178612377

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994438

rs_374138859

4 SubmittersRCV000540826 RCV003139802 RCV003278897

NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)

SNV
Germline

Chr2:178605670

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993765

rs_373277508

6 SubmittersRCV000597466 RCV000727093 RCV001089015 RCV004678744

NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)

SNV
Germline

Chr2:178605124

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993705

rs_368425364

8 SubmittersRCV000538658 RCV000658892 RCV002456146

NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)

SNV
Germline

Chr2:178617345

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994994

rs_764059405

3 SubmittersRCV000535141 RCV001136069 RCV001136070 RCV001136071 RCV001136072 RCV001136073 RCV003139798

NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)

SNV
Germline

Chr2:178707813

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999522

rs_200856239

4 SubmittersRCV000540573 RCV000594144 RCV000727514

NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)

SNV
Germline

Chr2:178608688

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994019

rs_749855424

3 SubmittersRCV000557556 RCV000591969 RCV004024033

NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys)

SNV
Germline

Chr2:178611632

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994337

rs_774137928

5 SubmittersRCV000555019 RCV001130078 RCV001130079 RCV001130080 RCV001130081 RCV001130777 RCV001700146

NM_001267550.2(TTN):c.52032T>C (p.His17344=)

SNV
Germline

Chr2:178609278

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1994074

rs_374254751

3 SubmittersRCV001129744 RCV001129745 RCV001129746 RCV001129747 RCV001129743 RCV001461264 RCV006452724

NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)

SNV
Germline

Chr2:178632203

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995817

rs_377015571

4 SubmittersRCV000548147 RCV001130211 RCV001130212 RCV001130213 RCV001130214 RCV001130215 RCV003488678 RCV005632470

NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)

SNV
Germline

Chr2:178609740

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994142

rs_370644359

8 SubmittersRCV000541583 RCV000997458 RCV001132561 RCV001132562 RCV001132563 RCV001132565 RCV001132564 RCV001264594 RCV002448713

NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)

SNV
Germline

Chr2:178611074

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994260

rs_773394284

4 SubmittersRCV000549952 RCV002225654

NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)

SNV
Germline

Chr2:178615356

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994784

rs_748917057

3 SubmittersRCV000550943 RCV000728962

NM_001267550.2(TTN):c.24506-8C>G

SNV
Germline

Chr2:178718608

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000410

rs_748675191

3 SubmittersRCV000727805 RCV001089274

NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)

SNV
Germline

Chr2:178616995

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349612840

rs_878982457

1 SubmittersRCV001377019

NM_001267550.2(TTN):c.23215C>A (p.Arg7739=)

SNV
Germline

Chr2:178720547

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000673

rs_372250586

2 SubmittersRCV000530748 RCV000596092

NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)

SNV
Germline

Chr2:178722030

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA2000796

rs_764687326

5 SubmittersRCV000559278 RCV001355451 RCV002497137

NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)

SNV
Germline

Chr2:178630312

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995719

rs_373298007

10 SubmittersRCV000528178 RCV000595875 RCV002404468 RCV003330774

NM_001267550.2(TTN):c.43748-4G>A

SNV
Germline

Chr2:178631304

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430276445

rs_1301078575

2 SubmittersRCV001490437 RCV003159833

NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)

SNV
Germline

Chr2:178636708

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996321

rs_762470432

5 SubmittersRCV000726465 RCV001087655 RCV002384158

NM_001267550.2(TTN):c.40927+1G>A

SNV
Germline

Chr2:178637368

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349662073

rs_1553749862

2 SubmittersRCV000535076 RCV001289375

NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)

SNV
Germline

Chr2:178728663

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001436

rs_552531581

5 SubmittersRCV000547366 RCV000605203 RCV001591238

NM_001267550.2(TTN):c.44667G>C (p.Gly14889=)

SNV
Germline

Chr2:178624613

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995594

rs_746287950

4 SubmittersRCV000544398 RCV002404471 RCV004711157

NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)

SNV
Germline

Chr2:178649608

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996555

rs_553280930

6 SubmittersRCV000531343 RCV001700144 RCV001724049

NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)

SNV
Germline

Chr2:178652486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996865

rs_755793186

4 SubmittersRCV000727194 RCV001088791

NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)

SNV
Germline

Chr2:178633011

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995936

rs_754227553

6 SubmittersRCV000555469 RCV001131047 RCV001131048 RCV001131049 RCV001131050 RCV001131046 RCV002261109 RCV002404466 RCV004527644

NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn)

SNV
Germline

Chr2:178731446

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001859

rs_752660722

3 SubmittersRCV000528320 RCV001574168 RCV003150265

NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)

SNV
Germline

Chr2:178635580

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996214

rs_371426048

3 SubmittersRCV000539660 RCV000609462 RCV003139794

NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)

SNV
Germline

Chr2:178662800

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA60973326

rs_997014833

6 SubmittersRCV000554897 RCV001579633 RCV002483434

NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)

SNV
Germline

Chr2:178665743

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1997710

rs_182102510

3 SubmittersRCV000535697 RCV002483432 RCV005404659

NM_001267550.2(TTN):c.35797+1G>T

SNV
Germline

Chr2:178667235

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349507965

rs_917175304

2 SubmittersRCV000547235 RCV004722894

NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys)

SNV
Germline

Chr2:178647399

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60965007

rs_988844595

3 SubmittersRCV000559314 RCV000852862 RCV004808766

NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser)

SNV
Germline

Chr2:178673684

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997992

rs_754511830

2 SubmittersRCV000545009 RCV000827044

NM_001267550.2(TTN):c.39709+7G>A

SNV
Germline

Chr2:178650744

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996625

rs_750763722

3 SubmittersRCV000552140 RCV001132777 RCV001132778 RCV001132776 RCV001136168 RCV001136167 RCV003431089

NM_001267550.2(TTN):c.32198-9C>A

SNV
Germline

Chr2:178688233

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1998689

rs_555383226

2 SubmittersRCV000543857 RCV003330773

NM_001267550.2(TTN):c.38898T>A (p.Val12966=)

SNV
Germline

Chr2:178652909

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996966

rs_200432936

3 SubmittersRCV000548400 RCV003437264

NM_001267550.2(TTN):c.33561G>T (p.Val11187=)

SNV
Germline

Chr2:178679913

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1998319

rs_763629416

4 SubmittersRCV000732978 RCV001087228 RCV005404656

NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)

SNV
Germline

Chr2:178717694

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60970212

rs_898098652

4 SubmittersRCV000527697 RCV002506345 RCV005404655 RCV005632469

NM_001267550.2(TTN):c.25063+1G>A

SNV
Germline

Chr2:178717942

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000298

rs_754247415

4 SubmittersRCV000550198 RCV000595351 RCV003338656

NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile)

SNV
Germline

Chr2:178688710

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998714

rs_763742779

3 SubmittersRCV000553123 RCV003486866 RCV004791553

NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter)

SNV
Germline

Chr2:178770204

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349677253

rs_1553994874

1 SubmittersRCV000530624

NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)

SNV
Germline

Chr2:178719377

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2000516

rs_757042397

5 SubmittersRCV000547861 RCV002491034 RCV003139785 RCV003486864 RCV005404654

NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile)

SNV
Germline

Chr2:178773330

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA61006134

rs_1016165797

2 SubmittersRCV000526249 RCV003486871

NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)

SNV
Germline

Chr2:178774314

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004933

rs_764882950

7 SubmittersRCV000546592 RCV000770125 RCV001567645 RCV001824822 RCV002367862

NM_001267550.2(TTN):c.22529-7C>A

SNV
Germline

Chr2:178722141

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000812

rs_769076842

2 SubmittersRCV000558054 RCV000613068

NM_001267550.2(TTN):c.21962-6C>T

SNV
Germline

Chr2:178722943

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000914

rs_374870814

6 SubmittersRCV000527935 RCV001131425 RCV001131426 RCV001131427 RCV001131429 RCV001171046 RCV001131428 RCV001269144 RCV001712508

NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe)

SNV
Germline

Chr2:178776784

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005222

rs_769798880

4 SubmittersRCV000536531 RCV003313096 RCV005404662

NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)

SNV
Germline

Chr2:178692530

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1998891

rs_376613199

7 SubmittersRCV000537819 RCV001129104 RCV001136087 RCV001136088 RCV001129105 RCV001136089 RCV001584287 RCV001798883 RCV004586777

NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)

SNV
Germline

Chr2:178681088

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1998386

rs_545067681

2 SubmittersRCV000544688 RCV001130796 RCV001130792 RCV001130794 RCV001130793 RCV001130795

NM_001267550.2(TTN):c.31513+1G>A

SNV
Germline

Chr2:178693921

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349561364

rs_1553860401

1 SubmittersRCV000534671

NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)

SNV
Germline

Chr2:178696105

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349566116

rs_1425322355

2 SubmittersRCV000545303 RCV003139789

NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile)

SNV
Germline

Chr2:178724347

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001091

rs_564660466

2 SubmittersRCV000547280 RCV006635946

NM_001267550.2(TTN):c.31422G>A (p.Val10474=)

SNV
Germline

Chr2:178694603

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998968

rs_72650020

4 SubmittersRCV000533749 RCV000600984 RCV001136178 RCV001136179 RCV001136180 RCV001136181 RCV001136177

NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter)

SNV
Germline

Chr2:178707659

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349587149

rs_1553883443

1 SubmittersRCV000553206

NM_001267550.2(TTN):c.19496A>T (p.His6499Leu)

SNV
Germline

Chr2:178728328

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001385

rs_375173049

2 SubmittersRCV000553414 RCV001547863

NM_001267550.2(TTN):c.2494-5T>C

SNV
Germline

Chr2:178784356

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005798

rs_370759512

3 SubmittersRCV000542966 RCV000730921 RCV001130682 RCV001130683 RCV001130685 RCV001129982 RCV001130684

NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)

SNV
Germline

Chr2:178729472

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001559

rs_368427156

3 SubmittersRCV000558290 RCV001133395 RCV001134866 RCV001134867 RCV001134868 RCV001134869 RCV001722490

NM_001267550.2(TTN):c.29502A>G (p.Glu9834=)

SNV
Germline

Chr2:178705276

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999365

rs_759468315

2 SubmittersRCV000536126 RCV000611230

NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)

SNV
Germline

Chr2:178739231

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002496

rs_758920941

4 SubmittersRCV000542699 RCV000770102 RCV001722488 RCV004537979

NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)

SNV
Germline

Chr2:178712199

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60965305

rs_563954136

4 SubmittersRCV000535040 RCV000727817 RCV001844195

NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro)

SNV
Germline

Chr2:178712163

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999746

rs_201253546

3 SubmittersRCV000547639 RCV002285358

NM_001267550.2(TTN):c.24879T>C (p.Ile8293=)

SNV
Germline

Chr2:178718127

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430286233

rs_1221548315

2 SubmittersRCV000558714 RCV003139787

NM_001267550.2(TTN):c.208G>A (p.Val70Met)

SNV
Germline

Chr2:178802225

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006391

rs_772248060

4 SubmittersRCV000529975 RCV000733548 RCV002420451

NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala)

SNV
Germline

Chr2:178740799

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002711

rs_372744369

2 SubmittersRCV000525087 RCV002323982

NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)

SNV
Germline

Chr2:178722035

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000798

rs_560272834

4 SubmittersRCV000546839 RCV001556090 RCV005418206

NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)

SNV
Germline

Chr2:178723101

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000933

rs_370548693

4 SubmittersRCV000728181 RCV001085374 RCV004800459

NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys)

SNV
Germline

Chr2:178718034

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60970448

rs_879030954

2 SubmittersRCV000536238 RCV000840283

NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)

SNV
Germline

Chr2:178770061

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA61003499

rs_879222360

6 SubmittersRCV000531115 RCV000595272 RCV002413551 RCV004537991

NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)

SNV
Germline

Chr2:178719566

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000545

rs_200395305

5 SubmittersRCV000533884 RCV000764344 RCV001536507 RCV006690674

NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)

SNV
Germline

Chr2:178725968

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001223

rs_201586695

3 SubmittersRCV000557256 RCV001131916 RCV001131912 RCV001131914 RCV001131913 RCV001131915 RCV003139782

NC_000002.12:g.178728782T>C

SNV
Germline

Chr2:178728782

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60977327

rs_1025136671

3 SubmittersRCV000611059 RCV000731843 RCV001089008

NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)

SNV
Germline

Chr2:178725857

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001214

rs_371518764

3 SubmittersRCV000556465 RCV000595473

NM_001267550.2(TTN):c.2274C>T (p.His758=)

SNV
Germline

Chr2:178785944

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005865

rs_772664968

2 SubmittersRCV000536991 RCV002420452

NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)

SNV
Germline

Chr2:178729447

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001554

rs_750368911

3 SubmittersRCV000534457 RCV001805179 RCV005404653

NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)

SNV
Germline

Chr2:178731447

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001860

rs_760724229

7 SubmittersRCV000547616 RCV001170645 RCV001700143 RCV001726228 RCV001840645 RCV001840646 RCV001840643 RCV001840644 RCV004537981

NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)

SNV
Germline

Chr2:178735687

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002354

rs_371455094

6 SubmittersRCV000540278 RCV000592077 RCV003330772 RCV004735604

NM_001267550.2(TTN):c.1938+1G>T

SNV
Germline

Chr2:178789977

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005939

rs_774414270

3 SubmittersRCV000528221 RCV004017673 RCV004992337

NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)

SNV
Germline

Chr2:178773346

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
not specified
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA2004773

rs_368574470

8 SubmittersRCV000537759 RCV000619486 RCV000714095 RCV001193720 RCV001170103 RCV002476170

NM_001267550.2(TTN):c.1185C>A (p.Ala395=)

SNV
Germline

Chr2:178794982

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430283084

rs_372346898

2 SubmittersRCV000532869 RCV002341344

NM_001267550.2(TTN):c.4646-7C>A

SNV
Germline

Chr2:178777324

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2005287

rs_758516007

4 SubmittersRCV000769126 RCV000828088 RCV001088152 RCV006650225

NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser)

SNV
Germline

Chr2:178740554

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA349610964

rs_1553939161

2 SubmittersRCV000554544 RCV000605220

NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu)

SNV
Germline

Chr2:178778887

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA349472224

rs_1554011657

2 SubmittersRCV000557575 RCV005404661

NM_001267550.2(TTN):c.2916G>A (p.Pro972=)

SNV
Germline

Chr2:178782990

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2005680

rs_757569345

6 SubmittersRCV000593933 RCV001088320 RCV002438396 RCV005628258

NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)

SNV
Germline

Chr2:178741222

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002775

rs_376000381

3 SubmittersRCV000559272 RCV001570411 RCV002456140

NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)

SNV
Germline

Chr2:178800551

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2006320

rs_754182768

5 SubmittersRCV000528780 RCV001591239 RCV002330889 RCV006690676

NM_001267550.2(TTN):c.156C>G (p.Pro52=)

SNV
Germline

Chr2:178802277

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006406

rs_72647842

5 SubmittersRCV000530794 RCV002271526 RCV002404465 RCV002060328

NM_001267550.2(TTN):c.11311+1G>T

SNV
Germline

Chr2:178753123

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349668262

rs_1553963537

2 SubmittersRCV000536709 RCV002431626

NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)

SNV
Germline

Chr2:178757566

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA2004068

rs_774004409

5 SubmittersRCV000547390 RCV000762302 RCV005404649 RCV002483429

NM_001267550.2(TTN):c.9988+2T>C

SNV
Germline

Chr2:178764525

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349673957

rs_1298389127

1 SubmittersRCV000551120

NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter)

SNV
Germline

Chr2:178770572

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349677873

rs_1553995639

1 SubmittersRCV000560362

NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)

SNV
Germline

Chr2:178782283

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349486609

rs_1467686861

1 SubmittersRCV000552951

NM_001267550.2(TTN):c.2745C>G (p.Arg915=)

SNV
Germline

Chr2:178784100

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005747

rs_773568773

2 SubmittersRCV000547165 RCV002438395

NM_001267550.2(TTN):c.66904C>T (p.Leu22302=)

SNV
Germline

Chr2:178580475

Likely pathogenic

Wolff-Parkinson-White pattern

No Assertion Criteria Provided

CA430262132

rs_1553624186

1 SubmittersRCV000656163

NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)

SNV
Germline

Chr2:178577785

Likely pathogenic

Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349671539

rs_1213930919

6 SubmittersRCV000578155 RCV001039553 RCV002330994 RCV003332208 RCV004796238

NM_001267550.2(TTN):c.100897C>T (p.Gln33633Ter)

SNV
Germline

Chr2:178535718

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349422531

rs_1553500574

1 SubmittersRCV000578744

NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)

SNV
Germline

Chr2:178535729

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349422586

rs_1260821931

5 SubmittersRCV000579133 RCV000618233 RCV000705335 RCV002497223

NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)

SNV
Germline

Chr2:178536043

Likely pathogenic

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349424907

rs_1553501227

4 SubmittersRCV000578936 RCV000844995 RCV002384275 RCV006556292

NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)

SNV
Germline

Chr2:178552203

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349509363

rs_1553539391

8 SubmittersRCV000578702 RCV001046151 RCV002289846 RCV004024595

NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)

SNV
Germline

Chr2:178560364

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349548048

rs_748689777

6 SubmittersRCV000578933 RCV001067487 RCV005410907 RCV005502839

NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)

SNV
Germline

Chr2:178563475

Pathogenic/Likely pathogenic

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60986821

rs_869178171

6 SubmittersRCV000579232 RCV000763467 RCV001379494 RCV001798900 RCV003159974

NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter)

SNV
Germline

Chr2:178575369

Likely pathogenic

Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349661349

rs_1553612999

2 SubmittersRCV000579027 RCV004796242

NM_001267550.2(TTN):c.49700C>G (p.Ser16567Ter)

SNV
Germline

Chr2:178613021

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349601418

rs_1553699802

1 SubmittersRCV000579023

NM_001267550.2(TTN):c.37906A>T (p.Lys12636Ter)

SNV
Germline

Chr2:178657735

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349481709

rs_1332772993

1 SubmittersRCV000578869

NM_001267550.2(TTN):c.17461+1G>T

SNV
Germline

Chr2:178731304

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001830

rs_747990127

3 SubmittersRCV000579361 RCV000811252 RCV004530628

NM_001267550.2(TTN):c.12643C>T (p.Gln4215Ter)

SNV
Germline

Chr2:178740590

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002683

rs_368329612

2 SubmittersRCV000579144 RCV006556289

NM_001267550.2(TTN):c.8875C>T (p.Gln2959Ter)

SNV
Germline

Chr2:178769706

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349676400

rs_774032732

1 SubmittersRCV000579040

NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter)

SNV
Germline

Chr2:178773202

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349679037

rs_1553999955

3 SubmittersRCV001041732 RCV001697390 RCV006362478

NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter)

SNV
Germline

Chr2:178775620

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349441942

rs_750064248

3 SubmittersRCV000732914 RCV001327301

NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter)

SNV
Germline

Chr2:178721046

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349517599

rs_1553908254

1 SubmittersRCV000585177

NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)

SNV
Germline

Chr2:178730700

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001734

rs_776790387

7 SubmittersRCV000591846 RCV000770088 RCV001133775 RCV001130809 RCV001130806 RCV001130807 RCV001130808

NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)

SNV
Germline

Chr2:178712178

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999749

rs_746558975

6 SubmittersRCV000596415 RCV001130453 RCV001130452 RCV001135523 RCV001130454 RCV001130455 RCV006459635

NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)

SNV
Germline

Chr2:178776124

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005144

rs_118161093

5 SubmittersRCV000725466 RCV001086587 RCV002350421

NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)

SNV
Germline

Chr2:178575268

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990711

rs_72646892

6 SubmittersRCV000725479 RCV001170343 RCV005863215

NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)

SNV
Germline

Chr2:178632970

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995930

rs_765214404

6 SubmittersRCV000597605 RCV001130347 RCV001130348 RCV001131043 RCV001131045 RCV001131044 RCV002061996 RCV002404597 RCV005404704

NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)

SNV
Germline

Chr2:178775505

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005064

rs_141142920

6 SubmittersRCV000592201 RCV001128781 RCV001131430 RCV001128780 RCV001131431 RCV001131432 RCV001170106 RCV002367996

NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)

SNV
Germline

Chr2:178532828

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985541

rs_762235688

5 SubmittersRCV000598204 RCV001040325 RCV002483573 RCV002395513

NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)

SNV
Germline

Chr2:178531354

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985286

rs_556741970

4 SubmittersRCV000593807 RCV001460979 RCV002413670 RCV003150291

NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)

SNV
Germline

Chr2:178532317

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985446

rs_751788327

5 SubmittersRCV000725693 RCV001086141 RCV002404598

NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)

SNV
Germline

Chr2:178566798

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989487

rs_764254441

6 SubmittersRCV000596420 RCV000725718

NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

SNV
Germline

Chr2:178693930

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998943

rs_768632287

4 SubmittersRCV000593097 RCV001174673

NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)

SNV
Germline

Chr2:178548056

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987281

rs_746309005

5 SubmittersRCV000594645 RCV000643852

NM_001267550.2(TTN):c.13228G>A (p.Glu4410Lys)

SNV
Germline

Chr2:178740005

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2002608

rs_374312091

5 SubmittersRCV000591076 RCV002358652 RCV005628261

NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)

SNV
Germline

Chr2:178577131

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990972

rs_188919648

3 SubmittersRCV000595417 RCV001456795 RCV004024698

NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)

SNV
Germline

Chr2:178532025

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985395

rs_756640084

4 SubmittersRCV000596663 RCV002404599 RCV006692282

NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val)

SNV
Germline

Chr2:178571550

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1990170

rs_149232991

6 SubmittersRCV000596674 RCV002341513 RCV005240292

NM_001267550.2(TTN):c.54811+10C>T

SNV
Germline

Chr2:178603866

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60979573

rs_796651993

6 SubmittersRCV000597465 RCV000726045 RCV003767351

NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)

SNV
Germline

Chr2:178766445

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004275

rs_760666570

5 SubmittersRCV000595458 RCV001440741 RCV005404705 RCV004678754

NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)

SNV
Germline

Chr2:178552152

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987749

rs_200651247

5 SubmittersRCV000596779 RCV002282251 RCV002367997

NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn)

SNV
Germline

Chr2:178582351

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991578

rs_373681189

3 SubmittersRCV000598416 RCV000643463 RCV003486887

NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)

SNV
Germline

Chr2:178712437

Conflicting classifications of pathogenicity

Condition: not provided
Left ventricular hypertrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999797

rs_199793620

9 SubmittersRCV000593381 RCV000678758 RCV001082337 RCV001662639

NM_001267550.2(TTN):c.31596C>T (p.Val10532=)

SNV
Germline

Chr2:178692579

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430131640

rs_1553858068

2 SubmittersRCV000598272 RCV001402332

NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)

SNV
Germline

Chr2:178577338

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991006

rs_369068922

6 SubmittersRCV000595925 RCV001088759 RCV002331006 RCV005404706

NM_001267550.2(TTN):c.28819G>A (p.Val9607Met)

SNV
Germline

Chr2:178707748

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999513

rs_375807609

2 SubmittersRCV000595600 RCV000643300

NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)

SNV
Germline

Chr2:178778932

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005396

rs_144609506

8 SubmittersRCV000598532 RCV000643133 RCV002232229 RCV002358653 RCV002467915

NM_001267550.2(TTN):c.34119G>A (p.Glu11373=)

SNV
Germline

Chr2:178677793

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998138

rs_548399416

3 SubmittersRCV000597324 RCV001134848 RCV001134849 RCV001134850 RCV001134851 RCV001134852 RCV002061997

NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)

SNV
Germline

Chr2:178713149

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA1999892

rs_781351100

5 SubmittersRCV000595566 RCV000643599 RCV000764341

NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)

SNV
Germline

Chr2:178545885

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA349462688

rs_1553520967

4 SubmittersRCV000598013 RCV001382385 RCV005407774

NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln)

SNV
Germline

Chr2:178601336

Conflicting classifications of pathogenicity

Condition: not provided
not specified
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993415

rs_202126861

5 SubmittersRCV000591262 RCV001264486 RCV002497246 RCV003486888

NM_001267550.2(TTN):c.31349-4A>T

SNV
Germline

Chr2:178694680

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA60991703

rs_1029227575

4 SubmittersRCV000596769 RCV001084080 RCV004788005 RCV006650269

NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)

SNV
Germline

Chr2:178537647

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986172

rs_560306385

5 SubmittersRCV000591100 RCV001251361 RCV002377225

NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)

SNV
Germline

Chr2:178535578

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985940

rs_377190399

6 SubmittersRCV000596585 RCV001078755 RCV001798909 RCV002384292 RCV005404707

NM_001267550.2(TTN):c.89313C>T (p.Val29771=)

SNV
Germline

Chr2:178553692

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987944

rs_746897918

3 SubmittersRCV000591198 RCV002065140 RCV002367998

NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)

SNV
Germline

Chr2:178552209

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987758

rs_373722546

6 SubmittersRCV000642932 RCV000726510 RCV002367999 RCV004526712

NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)

SNV
Germline

Chr2:178576584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990907

rs_371996901

4 SubmittersRCV000597824 RCV000726520 RCV001087903 RCV002331008

NM_001267550.2(TTN):c.1815T>C (p.Thr605=)

SNV
Germline

Chr2:178790101

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005953

rs_757604614

7 SubmittersRCV000592469 RCV001084909 RCV002404600

NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)

SNV
Germline

Chr2:178576690

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990918

rs_201448988

7 SubmittersRCV000592541

NM_001267550.2(TTN):c.29658T>G (p.Leu9886=)

SNV
Germline

Chr2:178704913

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999333

rs_372392376

3 SubmittersRCV000595938 RCV001080414

NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)

SNV
Germline

Chr2:178573458

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990474

rs_55992239

8 SubmittersRCV000618453 RCV000643696 RCV000714087

NM_001267550.2(TTN):c.55788G>A (p.Val18596=)

SNV
Germline

Chr2:178601116

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1993384

rs_769822399

2 SubmittersRCV000596114 RCV001491402

NM_133379.5(TTN):c.15313C>A (p.Arg5105=)

SNV
Germline

Chr2:178747087

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA645514539

rs_376396183

4 SubmittersRCV000596156 RCV001724070

NM_133379.5(TTN):c.15261C>A (p.Pro5087=)

SNV
Germline

Chr2:178747139

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2003139

rs_565824755

2 SubmittersRCV000596714

NM_001267550.2(TTN):c.48483T>C (p.Asn16161=)

SNV
Germline

Chr2:178615462

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430105645

rs_1301618072

3 SubmittersRCV000598063 RCV005213329 RCV005502841

NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn)

SNV
Germline

Chr2:178574300

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349650435

rs_1449315408

2 SubmittersRCV000591142

NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)

SNV
Germline

Chr2:178559777

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988514

rs_745857020

4 SubmittersRCV000726731 RCV001087455 RCV002358655

NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)

SNV
Germline

Chr2:178578612

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430104778

rs_1553619783

4 SubmittersRCV000598357 RCV001860163 RCV005502842

NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)

SNV
Germline

Chr2:178723286

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000959

rs_367854582

5 SubmittersRCV000596300 RCV000643403 RCV000726734

NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)

SNV
Germline

Chr2:178574018

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990542

rs_768064912

4 SubmittersRCV000726738 RCV001445279 RCV006717149

NM_001267550.2(TTN):c.45327C>T (p.Thr15109=)

SNV
Germline

Chr2:178621497

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995458

rs_376143828

3 SubmittersRCV000591488 RCV002065147 RCV005502843

NM_001267550.2(TTN):c.87183C>T (p.Asn29061=)

SNV
Germline

Chr2:178558171

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988351

rs_372776235

3 SubmittersRCV000592997 RCV002531011 RCV006662964

NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)

SNV
Germline

Chr2:178548497

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987353

rs_758336721

5 SubmittersRCV000592432 RCV001079341 RCV002377228

NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)

SNV
Germline

Chr2:178533313

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985627

rs_773408387

5 SubmittersRCV000598529 RCV000726762 RCV001454590 RCV002395520

NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)

SNV
Germline

Chr2:178584958

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991858

rs_542156552

4 SubmittersRCV000591151 RCV000726792 RCV001468362 RCV004024728

NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)

SNV
Germline

Chr2:178635512

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996208

rs_201725483

5 SubmittersRCV000726793 RCV001798910 RCV002395521

NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val)

SNV
Germline

Chr2:178607159

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1993810

rs_368065637

2 SubmittersRCV000726794 RCV000596048

NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)

SNV
Germline

Chr2:178635546

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996210

rs_766397292

3 SubmittersRCV000591108 RCV001454734 RCV002395522

NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)

SNV
Germline

Chr2:178739754

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002576

rs_368698752

4 SubmittersRCV000592689 RCV001087938 RCV002377229

NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)

SNV
Germline

Chr2:178535635

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60960301

rs_727503536

3 SubmittersRCV000597986 RCV001485438 RCV002384294

NM_001267550.2(TTN):c.6508+1G>T

SNV
Germline

Chr2:178775355

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349682676

rs_1373416532

3 SubmittersRCV000591560 RCV000696133 RCV002368004

NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)

SNV
Germline

Chr2:178777900

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005346

rs_771454835

4 SubmittersRCV000591386 RCV001450128 RCV002331011

NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)

SNV
Germline

Chr2:178567153

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349600340

rs_1419374180

8 SubmittersRCV000592175 RCV001379743 RCV003302911 RCV004017690 RCV004813123

NM_001267550.2(TTN):c.4206C>T (p.Ile1402=)

SNV
Germline

Chr2:178778876

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430107882

rs_1554011604

2 SubmittersRCV000597040 RCV001488139

NM_001267550.2(TTN):c.55986C>T (p.Val18662=)

SNV
Germline

Chr2:178600918

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60977418

rs_747136342

3 SubmittersRCV000593469 RCV001504997 RCV002438534

NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)

SNV
Germline

Chr2:178604109

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993613

rs_777505893

6 SubmittersRCV000596246 RCV000642758 RCV002438535 RCV003150292

NM_001267550.2(TTN):c.795C>T (p.Ser265=)

SNV
Germline

Chr2:178799606

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2006224

rs_780802517

3 SubmittersRCV000597096 RCV002420570 RCV003767364

NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)

SNV
Germline

Chr2:178574433

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1990599

rs_369292052

7 SubmittersRCV000597169 RCV000642885 RCV002331013 RCV002467916 RCV006650270

NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)

SNV
Germline

Chr2:178617487

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60990170

rs_879099244

4 SubmittersRCV000726885 RCV001505310 RCV002420571

NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)

SNV
Germline

Chr2:178543972

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1986809

rs_201463708

7 SubmittersRCV000596001 RCV000643669 RCV005404710

NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)

SNV
Germline

Chr2:178560410

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988598

rs_763685410

3 SubmittersRCV000591478 RCV001481979 RCV004735646

NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)

SNV
Germline

Chr2:178560959

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349555326

rs_1553563519

3 SubmittersRCV000595054 RCV004024755 RCV006556315

NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)

SNV
Germline

Chr2:178639775

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61009077

rs_879111430

3 SubmittersRCV000597549 RCV001417395 RCV002384297

NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)

SNV
Germline

Chr2:178551781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987689

rs_192167542

5 SubmittersRCV000595176 RCV000690292 RCV000765545 RCV002358656

NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)

SNV
Germline

Chr2:178533369

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430236949

rs_1553492053

5 SubmittersRCV000595885 RCV001447328 RCV006662968

NM_001267550.2(TTN):c.39895+1G>A

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996565

rs_749931280

2 SubmittersRCV000592493 RCV003767367

NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)

SNV
Germline

Chr2:178577108

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990964

rs_765930349

5 SubmittersRCV000595597 RCV000726940

NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)

SNV
Germline

Chr2:178559594

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988485

rs_747423090

4 SubmittersRCV000594772 RCV001087858 RCV002358657

NM_001267550.2(TTN):c.14871C>A (p.Thr4957=)

SNV
Germline

Chr2:178735575

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60981741

rs_779268926

3 SubmittersRCV000597239 RCV000769084 RCV002062036

NM_001267550.2(TTN):c.39895+7A>G

SNV
Germline

Chr2:178649810

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA538436598

rs_1299824475

3 SubmittersRCV000595003 RCV001490434 RCV003235304

NM_001267550.2(TTN):c.70743C>T (p.His23581=)

SNV
Germline

Chr2:178575389

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990733

rs_375194057

5 SubmittersRCV000596443 RCV001436245 RCV002331014 RCV004735649

NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)

SNV
Germline

Chr2:178740276

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002645

rs_762330685

5 SubmittersRCV000591436 RCV001088777 RCV003160020 RCV004543347

NM_001267550.2(TTN):c.574C>T (p.Leu192=)

SNV
Germline

Chr2:178800404

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006301

rs_767983460

3 SubmittersRCV000597367 RCV001083092 RCV002350425

NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)

SNV
Germline

Chr2:178631061

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349646549

rs_1271800091

3 SubmittersRCV000597653 RCV002404605

NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)

SNV
Germline

Chr2:178584907

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991847

rs_773855604

5 SubmittersRCV000592451 RCV001079605 RCV002368011

NM_001267550.2(TTN):c.91998C>G (p.Ala30666=)

SNV
Germline

Chr2:178549724

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430244670

rs_1160773007

3 SubmittersRCV000597857 RCV005213332

NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)

SNV
Germline

Chr2:178576605

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430258584

rs_1487392148

4 SubmittersRCV000593391 RCV000726988 RCV002532456 RCV004992374

NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)

SNV
Germline

Chr2:178553140

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987872

rs_747181293

6 SubmittersRCV000643405 RCV000714112 RCV005863218

NM_001267550.2(TTN):c.39895+1G>C

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349447873

rs_749931280

3 SubmittersRCV000596509 RCV000687882

NM_001267550.2(TTN):c.90594T>C (p.His30198=)

SNV
Germline

Chr2:178552306

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987771

rs_765307374

4 SubmittersRCV000593298 RCV001081029 RCV002368013

NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)

SNV
Germline

Chr2:178549014

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987425

rs_756610221

3 SubmittersRCV000591967

NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=)

SNV
Germline

Chr2:178732531

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA60979693

rs_970449071

3 SubmittersRCV000597697 RCV001465696 RCV005404711

NM_001267550.2(TTN):c.32471-6C>T

SNV
Germline

Chr2:178684995

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998628

rs_763361422

4 SubmittersRCV000596044 RCV001079251 RCV004788007

NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr)

SNV
Germline

Chr2:178620442

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349629531

rs_1465320800

2 SubmittersRCV000591428 RCV000852856

NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)

SNV
Germline

Chr2:178731069

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001786

rs_753136638

5 SubmittersRCV000597458 RCV000643100

NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)

SNV
Germline

Chr2:178532910

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349413691

rs_1553490574

7 SubmittersRCV000592204 RCV001217365 RCV002260514 RCV002395527 RCV005418231

NM_001267550.2(TTN):c.24951C>T (p.Asn8317=)

SNV
Germline

Chr2:178718055

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430286033

rs_370154022

2 SubmittersRCV000596021 RCV001445759

NM_001267550.2(TTN):c.57719G>A (p.Arg19240Gln)

SNV
Germline

Chr2:178595635

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993001

rs_535940583

4 SubmittersRCV000594157 RCV001798911

NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)

SNV
Germline

Chr2:178545512

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430101523

rs_1553520323

4 SubmittersRCV000596808 RCV002282257 RCV006342385 RCV006556322

NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)

SNV
Germline

Chr2:178543090

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986695

rs_199532781

5 SubmittersRCV000727094 RCV003488718

NM_001267550.2(TTN):c.96904+8C>A

SNV
Germline

Chr2:178543061

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA538435099

rs_528358945

2 SubmittersRCV000594105 RCV001506422

NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln)

SNV
Germline

Chr2:178563606

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA349573086

rs_1246168127

3 SubmittersRCV000594071 RCV002497271 RCV005404712

NM_001267550.2(TTN):c.25173G>A (p.Val8391=)

SNV
Germline

Chr2:178717701

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60970216

rs_912662531

2 SubmittersRCV000595328 RCV002062060

NM_001267550.2(TTN):c.81711A>G (p.Glu27237=)

SNV
Germline

Chr2:178564421

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430251227

rs_1553576452

2 SubmittersRCV000597961 RCV002062061

NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys)

SNV
Germline

Chr2:178545424

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986903

rs_745365163

3 SubmittersRCV000593714

NM_001267550.2(TTN):c.96039T>C (p.Asp32013=)

SNV
Germline

Chr2:178544105

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241574

rs_1553518883

2 SubmittersRCV000591435 RCV005298545

NM_001267550.2(TTN):c.2733C>T (p.Val911=)

SNV
Germline

Chr2:178784112

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430111757

rs_1554019951

2 SubmittersRCV000591712 RCV002062062

NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)

SNV
Germline

Chr2:178568093

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989672

rs_755117644

5 SubmittersRCV000592710 RCV003488719 RCV001798912

NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)

SNV
Germline

Chr2:178569095

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989830

rs_372800320

3 SubmittersRCV000598088 RCV002062064 RCV004024781

NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala)

SNV
Germline

Chr2:178701183

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999086

rs_781304514

2 SubmittersRCV000596332

NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)

SNV
Germline

Chr2:178542933

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986664

rs_771385738

6 SubmittersRCV000591398 RCV001088167 RCV001805201 RCV002368015 RCV004530698

NM_001267550.2(TTN):c.18028+2T>C

SNV
Germline

Chr2:178730503

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349567570

rs_1553922787

2 SubmittersRCV000594817 RCV003767373

NM_001267550.2(TTN):c.34161A>G (p.Glu11387=)

SNV
Germline

Chr2:178677751

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998127

rs_780975680

2 SubmittersRCV000598235 RCV002531062

NM_001267550.2(TTN):c.32887+1G>T

SNV
Germline

Chr2:178683210

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1998505

rs_546105899

6 SubmittersRCV000597154 RCV001303055 RCV002506422 RCV006257305

NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)

SNV
Germline

Chr2:178611030

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994251

rs_755994820

5 SubmittersRCV000592436 RCV001453780 RCV002431752 RCV004735651

NM_001267550.2(TTN):c.32199A>G (p.Val10733=)

SNV
Germline

Chr2:178688223

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998687

rs_769008912

2 SubmittersRCV000596295 RCV003767378

NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)

SNV
Germline

Chr2:178534001

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985728

rs_367926247

7 SubmittersRCV000597739 RCV002395528 RCV003317296

NM_001267550.2(TTN):c.89742A>G (p.Ile29914Met)

SNV
Germline

Chr2:178553158

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349516367

rs_1230340692

3 SubmittersRCV000593704 RCV005404713

NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)

SNV
Germline

Chr2:178677820

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998140

rs_765888527

4 SubmittersRCV000591114 RCV001453686

NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)

SNV
Germline

Chr2:178771425

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430125876

rs_1553997365

3 SubmittersRCV000592928 RCV000643027 RCV004024790

NM_001267550.2(TTN):c.25035C>T (p.Val8345=)

SNV
Germline

Chr2:178717971

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000304

rs_781552736

2 SubmittersRCV000595423 RCV001477295

NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)

SNV
Germline

Chr2:178739893

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002595

rs_777547090

6 SubmittersRCV000727182 RCV002368019

NM_001267550.2(TTN):c.90171T>C (p.Asp30057=)

SNV
Germline

Chr2:178552729

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987824

rs_774509104

2 SubmittersRCV000598155 RCV002531067

NM_001267550.2(TTN):c.86345C>A (p.Pro28782Gln)

SNV
Germline

Chr2:178559787

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60983998

rs_561319491

4 SubmittersRCV000596075 RCV006265099

NM_001267550.2(TTN):c.6423G>A (p.Val2141=)

SNV
Germline

Chr2:178775441

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005051

rs_768989325

4 SubmittersRCV000592509 RCV001444322 RCV002368021

NM_001267550.2(TTN):c.4641G>T (p.Val1547=)

SNV
Germline

Chr2:178777424

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60978325

rs_1012929202

4 SubmittersRCV000598051 RCV000727209 RCV002331017 RCV003767384

NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)

SNV
Germline

Chr2:178568966

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60993257

rs_757252494

5 SubmittersRCV000593181 RCV000727210 RCV001397000 RCV002341526

NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)

SNV
Germline

Chr2:178576229

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990859

rs_372799151

4 SubmittersRCV000591872 RCV001506188 RCV002331018

NM_001267550.2(TTN):c.41329+2T>G

SNV
Germline

Chr2:178636396

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349660604

rs_1553747489

3 SubmittersRCV000592248 RCV002395529 RCV003767387

NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)

SNV
Germline

Chr2:178569650

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989906

rs_370908118

6 SubmittersRCV000594836 RCV000727213 RCV001078978 RCV001798913 RCV002341527

NM_001267550.2(TTN):c.73827A>G (p.Glu24609=)

SNV
Germline

Chr2:178572305

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430255839

rs_754097967

2 SubmittersRCV000597460 RCV001505919

NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)

SNV
Germline

Chr2:178618702

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995160

rs_766610061

3 SubmittersRCV000595440 RCV004024794 RCV003767388

NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)

SNV
Germline

Chr2:178549838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987539

rs_144922355

4 SubmittersRCV000598113 RCV000727216 RCV005223031

NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)

SNV
Germline

Chr2:178571033

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1990105

rs_370272814

6 SubmittersRCV000591231 RCV001394349 RCV002341528 RCV006459642

NM_001267550.2(TTN):c.14670C>T (p.Phe4890=)

SNV
Germline

Chr2:178735776

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430294753

rs_1260191732

2 SubmittersRCV000591902 RCV001447600

NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)

SNV
Germline

Chr2:178546838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987098

rs_558347312

4 SubmittersRCV000596386 RCV000727233 RCV001088824 RCV002368024

NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)

SNV
Germline

Chr2:178537671

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986175

rs_576759867

4 SubmittersRCV000591641 RCV001193165

NM_001267550.2(TTN):c.95805C>T (p.Tyr31935=)

SNV
Germline

Chr2:178544424

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986875

rs_375076970

2 SubmittersRCV000591035 RCV001483282

NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)

SNV
Germline

Chr2:178729827

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430292741

rs_1435792777

2 SubmittersRCV000595306 RCV001396182

NM_001267550.2(TTN):c.22653T>A (p.Asp7551Glu)

SNV
Germline

Chr2:178722010

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000793

rs_371736246

3 SubmittersRCV000597299 RCV005628262

NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)

SNV
Germline

Chr2:178738241

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430295203

rs_1311308523

3 SubmittersRCV000597960 RCV000643764 RCV004024808

NM_001267550.2(TTN):c.82401T>C (p.Tyr27467=)

SNV
Germline

Chr2:178563731

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989078

rs_771006818

2 SubmittersRCV000594730 RCV005223033

NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)

SNV
Germline

Chr2:178784310

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005788

rs_768608500

5 SubmittersRCV000596809 RCV000765593 RCV002456309

NM_001267550.2(TTN):c.92871T>C (p.Ala30957=)

SNV
Germline

Chr2:178548755

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA430243556

rs_748822553

2 SubmittersRCV000595556

NM_001267550.2(TTN):c.98685T>C (p.Asn32895=)

SNV
Germline

Chr2:178539250

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986326

rs_752093604

2 SubmittersRCV000593137 RCV001487197

NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)

SNV
Germline

Chr2:178794509

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006097

rs_371639583

5 SubmittersRCV000594779 RCV000727286 RCV002384303

NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)

SNV
Germline

Chr2:178601120

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1993387

rs_770499179

7 SubmittersRCV000597499 RCV000643805 RCV003150293 RCV005404714

NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)

SNV
Germline

Chr2:178625329

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1995628

rs_751929345

7 SubmittersRCV000592154 RCV000643402 RCV002491214 RCV003150294 RCV005404715

NM_001267550.2(TTN):c.54477C>G (p.Val18159=)

SNV
Germline

Chr2:178604210

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993623

rs_374335905

4 SubmittersRCV000593379 RCV000643767 RCV000727302 RCV002431755

NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)

SNV
Germline

Chr2:178630299

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995715

rs_368830196

3 SubmittersRCV000591544 RCV002404610

NM_001267550.2(TTN):c.88009+8T>C

SNV
Germline

Chr2:178557245

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988231

rs_748691963

3 SubmittersRCV000598393 RCV005223035

NM_001267550.2(TTN):c.83580G>A (p.Val27860=)

SNV
Germline

Chr2:178562552

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988901

rs_200096597

6 SubmittersRCV000598519 RCV000727312 RCV001088493 RCV002350427

NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)

SNV
Germline

Chr2:178629307

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995651

rs_368005198

3 SubmittersRCV000593166 RCV000622141 RCV001087059

NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn)

SNV
Germline

Chr2:178572195

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990288

rs_370902028

3 SubmittersRCV000591346 RCV002331021

NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)

SNV
Germline

Chr2:178572197

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990289

rs_375726644

4 SubmittersRCV000594387 RCV001084814 RCV002341531

NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)

SNV
Germline

Chr2:178599748

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349534533

rs_1477101279

5 SubmittersRCV000592832 RCV000818597 RCV003326470

NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)

SNV
Germline

Chr2:178704535

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60999470

rs_878892843

3 SubmittersRCV000591143 RCV001503601

NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)

SNV
Germline

Chr2:178565291

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60988624

rs_1015506783

3 SubmittersRCV000597207 RCV001436632 RCV002350428

NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)

SNV
Germline

Chr2:178718485

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000392

rs_751733811

4 SubmittersRCV000595784 RCV001088549 RCV004543373

NM_001267550.2(TTN):c.95838G>A (p.Leu31946=)

SNV
Germline

Chr2:178544391

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241881

rs_1553519324

3 SubmittersRCV000597342 RCV005223036 RCV006342389

NM_001267550.2(TTN):c.47079T>G (p.Val15693=)

SNV
Germline

Chr2:178618379

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430274676

rs_1367055779

3 SubmittersRCV000597806 RCV002532594 RCV006662972

NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)

SNV
Germline

Chr2:178615374

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994787

rs_747433688

4 SubmittersRCV000592417 RCV002420578

NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)

SNV
Germline

Chr2:178548371

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987331

rs_372611171

6 SubmittersRCV000597642 RCV000619890 RCV001078576

NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)

SNV
Germline

Chr2:178774319

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61007161

rs_879103814

4 SubmittersRCV000593221 RCV001089205 RCV004024820

NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)

SNV
Germline

Chr2:178609711

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1994134

rs_773035917

11 SubmittersRCV000597287 RCV000852520 RCV001134844 RCV001129852 RCV001129853 RCV001129851 RCV001134845 RCV001798914 RCV002456311 RCV005431792

NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)

SNV
Germline

Chr2:178583882

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991727

rs_762578274

5 SubmittersRCV000593981 RCV002358661 RCV004767432

NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)

SNV
Germline

Chr2:178573774

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990511

rs_372309164

6 SubmittersRCV000596464 RCV000643217 RCV000764317 RCV003150295

NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)

SNV
Germline

Chr2:178790021

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005945

rs_150231219

6 SubmittersRCV000591041 RCV000643755 RCV000765595 RCV003150296

NM_001267550.2(TTN):c.8184C>G (p.Val2728=)

SNV
Germline

Chr2:178770608

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61003840

rs_753356474

3 SubmittersRCV000594168 RCV001427410 RCV002420580

NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)

SNV
Germline

Chr2:178534053

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985734

rs_577667352

4 SubmittersRCV000727386 RCV001860207

NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala)

SNV
Germline

Chr2:178651527

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349456024

rs_1553769611

2 SubmittersRCV000591220 RCV000727391

NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)

SNV
Germline

Chr2:178576256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430258960

rs_1267766480

4 SubmittersRCV000593399 RCV000727392 RCV001461403 RCV002331023

NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)

SNV
Germline

Chr2:178775621

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005083

rs_770052197

5 SubmittersRCV000596760 RCV001867980 RCV002358662

NM_001267550.2(TTN):c.31749T>C (p.Ala10583=)

SNV
Germline

Chr2:178692029

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430131529

rs_1553856718

2 SubmittersRCV000591891 RCV005209510

NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)

SNV
Germline

Chr2:178592503

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60970715

rs_972823319

4 SubmittersRCV000593924 RCV002062087 RCV002325133

NM_001267550.2(TTN):c.23477T>C (p.Val7826Ala)

SNV
Germline

Chr2:178720165

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2000620

rs_200663337

6 SubmittersRCV000593092 RCV003486889 RCV005431793

NM_001267550.2(TTN):c.14372-2A>C

SNV
Germline

Chr2:178736076

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349600286

rs_747942388

2 SubmittersRCV000593692 RCV000701156

NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)

SNV
Germline

Chr2:178534075

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985739

rs_368844570

4 SubmittersRCV000594709 RCV001087013 RCV002395537 RCV003323629

NM_001267550.2(TTN):c.95649G>A (p.Val31883=)

SNV
Germline

Chr2:178545461

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430101461

rs_1553520236

3 SubmittersRCV000597107 RCV002532623 RCV003160053

NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)

SNV
Germline

Chr2:178778874

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005386

rs_531590921

4 SubmittersRCV000727416 RCV001083942 RCV002325134

NM_001267550.2(TTN):c.80820A>G (p.Lys26940=)

SNV
Germline

Chr2:178565312

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430251583

rs_1553581397

2 SubmittersRCV000596275 RCV006556335

NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)

SNV
Germline

Chr2:178577786

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991060

rs_370292933

4 SubmittersRCV000596448 RCV001419810 RCV002331024

NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)

SNV
Germline

Chr2:178588881

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992175

rs_770335539

4 SubmittersRCV000594086 RCV001432210 RCV003343936 RCV002509462

NM_001267550.2(TTN):c.13872C>T (p.His4624=)

SNV
Germline

Chr2:178739361

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002513

rs_765700138

3 SubmittersRCV000598316 RCV002062090 RCV004024830

NM_001267550.2(TTN):c.44112C>T (p.His14704=)

SNV
Germline

Chr2:178630846

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995758

rs_754693395

5 SubmittersRCV000595906 RCV000620212 RCV001495203 RCV004543382

NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)

SNV
Germline

Chr2:178768786

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA2004458

rs_372303620

4 SubmittersRCV000592200 RCV001171061 RCV002377238 RCV002483648

NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr)

SNV
Germline

Chr2:178784195

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005768

rs_772195446

2 SubmittersRCV000727450

NM_001267550.2(TTN):c.34930+2T>C

SNV
Germline

Chr2:178672405

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Myopathy, centronuclear, 2
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1997937

rs_749252830

8 SubmittersRCV000597258 RCV001050674 RCV001535718 RCV005404718

NM_001267550.2(TTN):c.5645G>A (p.Arg1882His)

SNV
Germline

Chr2:178776219

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005152

rs_374605213

4 SubmittersRCV000592661

NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala)

SNV
Germline

Chr2:178782895

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349490449

rs_1413214135

3 SubmittersRCV000597082 RCV000852942

NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu)

SNV
Germline

Chr2:178560087

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988559

rs_760467197

2 SubmittersRCV000598042 RCV000727467

NM_001267550.2(TTN):c.2840C>T (p.Ser947Leu)

SNV
Germline

Chr2:178783721

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005713

rs_761200839

3 SubmittersRCV001194353 RCV000593406 RCV003150297

NM_001267550.2(TTN):c.83351C>T (p.Thr27784Met)

SNV
Germline

Chr2:178562781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988932

rs_140879454

3 SubmittersRCV000595985 RCV001130883 RCV001130884 RCV001130886 RCV001130885 RCV001130887

NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)

SNV
Germline

Chr2:178587534

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992032

rs_371286595

5 SubmittersRCV000593342 RCV002456312 RCV004530722

NM_001267550.2(TTN):c.65577C>A (p.Val21859=)

SNV
Germline

Chr2:178583226

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430262861

rs_1553629776

2 SubmittersRCV000591634 RCV005286143

NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro)

SNV
Germline

Chr2:178611778

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1994361

rs_764983586

5 SubmittersRCV000595764 RCV002476338 RCV005404719

NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)

SNV
Germline

Chr2:178589257

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992222

rs_758019778

6 SubmittersRCV000594020 RCV000643621 RCV000727490

NM_001267550.2(TTN):c.40723+8T>G

SNV
Germline

Chr2:178640533

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA538092019

rs_1219288687

2 SubmittersRCV000594410 RCV002062098

NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)

SNV
Germline

Chr2:178776287

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005163

rs_551538420

4 SubmittersRCV000596191 RCV001421176 RCV002350431

NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)

SNV
Germline

Chr2:178564985

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989246

rs_765706611

3 SubmittersRCV000593982 RCV001468391 RCV003302924

NM_001267550.2(TTN):c.100818T>C (p.His33606=)

SNV
Germline

Chr2:178535797

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430238629

rs_1402147578

3 SubmittersRCV000596602 RCV003767408

NM_133379.5(TTN):c.11940T>C (p.Asn3980=)

SNV
Germline

Chr2:178750460

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA60989887

rs_923904530

3 SubmittersRCV000593799

NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)

SNV
Germline

Chr2:178548731

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430243503

rs_1379558944

3 SubmittersRCV000591570 RCV000643524 RCV003362853

NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)

SNV
Germline

Chr2:178608769

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994028

rs_765216874

4 SubmittersRCV000593011 RCV001456308 RCV002456316

NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)

SNV
Germline

Chr2:178581984

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991535

rs_763729258

4 SubmittersRCV000594415 RCV000727518 RCV002377239

NM_001267550.2(TTN):c.267G>A (p.Ala89=)

SNV
Germline

Chr2:178802166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006378

rs_577716745

5 SubmittersRCV000593917 RCV000727529 RCV001089114 RCV002431757

NM_001267550.2(TTN):c.53881+4C>T

SNV
Germline

Chr2:178605410

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993735

rs_187632918

6 SubmittersRCV000597103 RCV000810641 RCV002456317

NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)

SNV
Germline

Chr2:178774444

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA61007278

rs_145649088

5 SubmittersRCV000598721 RCV001369643 RCV003302927 RCV004543395

NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter)

SNV
Germline

Chr2:178766430

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349674681

rs_1553987591

1 SubmittersRCV000598812

NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)

SNV
Germline

Chr2:178738208

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349602415

rs_1553934752

3 SubmittersRCV000599003 RCV001860226 RCV005404721

NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)

SNV
Germline

Chr2:178777249

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349462378

rs_1554008881

6 SubmittersRCV002062110 RCV002341535 RCV004735656 RCV005416116 RCV005431797 RCV005223040

NM_001267550.2(TTN):c.30434-15G>A

SNV
Germline

Chr2:178702260

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999168

rs_373562293

3 SubmittersRCV000609407 RCV002062122

NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu)

SNV
Germline

Chr2:178598963

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349527354

rs_1296926879

3 SubmittersRCV000601136 RCV003139931

NM_001267550.2(TTN):c.51437-9G>A

SNV
Germline

Chr2:178609995

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994188

rs_183060991

3 SubmittersRCV000608971 RCV001491312 RCV001584412

NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala)

SNV
Germline

Chr2:178704315

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999246

rs_754368714

4 SubmittersRCV000608815 RCV003139930 RCV004533261

NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)

SNV
Germline

Chr2:178548519

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987355

rs_376942948

5 SubmittersRCV000609584 RCV000643232 RCV002225685 RCV002368031

NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)

SNV
Germline

Chr2:178557031

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988195

rs_368439674

8 SubmittersRCV000609021 RCV000643199 RCV001544870 RCV002358669

NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe)

SNV
Germline

Chr2:178588138

Conflicting classifications of pathogenicity

not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992118

rs_377480514

5 SubmittersRCV000606624 RCV000765560 RCV003480708

NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)

SNV
Germline

Chr2:178592211

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9

Criteria Provided
Multiple Submitters
No Conflicts

CA60970456

rs_974671846

5 SubmittersRCV000601929 RCV000823931 RCV002473069 RCV002325139 RCV003338681

NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)

SNV
Germline

Chr2:178704348

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349576091

rs_1553877757

2 SubmittersRCV000600896 RCV003488722

NM_001267550.2(TTN):c.24922C>T (p.Pro8308Ser)

SNV
Germline

Chr2:178718084

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000323

rs_373770383

3 SubmittersRCV000604384 RCV005231145

NM_001267550.2(TTN):c.21545G>A (p.Arg7182Gln)

SNV
Germline

Chr2:178723555

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001006

rs_200447686

3 SubmittersRCV000615684 RCV000827561

NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)

SNV
Germline

Chr2:178731759

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001913

rs_376593556

7 SubmittersRCV000611089 RCV000643455 RCV000727862

NM_001267550.2(TTN):c.106127G>C (p.Gly35376Ala)

SNV
Germline

Chr2:178530488

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985162

rs_752758517

2 SubmittersRCV000616501 RCV004017699

NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)

SNV
Germline

Chr2:178531803

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985355

rs_755726554

5 SubmittersRCV000599694 RCV000867039 RCV002413696 RCV003139906

NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)

SNV
Germline

Chr2:178539634

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986378

rs_371807358

9 SubmittersRCV000619886 RCV000993519 RCV003317298

NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)

SNV
Germline

Chr2:178541472

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986520

rs_760676361

4 SubmittersRCV000601157 RCV000643488 RCV000769866 RCV003139922

NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)

SNV
Germline

Chr2:178544221

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986840

rs_745962752

4 SubmittersRCV000601678 RCV001134224 RCV001131260 RCV001131262 RCV001131261 RCV001131263 RCV003139928

NM_001267550.2(TTN):c.95884A>G (p.Asn31962Asp)

SNV
Germline

Chr2:178544345

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986859

rs_369087584

6 SubmittersRCV000605539 RCV002360467 RCV002261129 RCV004735673

NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)

SNV
Germline

Chr2:178548412

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987338

rs_368932767

8 SubmittersRCV000643766 RCV000734327 RCV001798924 RCV002377318

NM_001267550.2(TTN):c.86821+3A>G

SNV
Germline

Chr2:178559308

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60983587

rs_1010541689

2 SubmittersRCV000609352 RCV001854152

NM_001267550.2(TTN):c.84650C>T (p.Ser28217Phe)

SNV
Germline

Chr2:178561482

Conflicting classifications of pathogenicity

not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA60985064

rs_888839405

2 SubmittersRCV000607818 RCV005027726

NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)

SNV
Germline

Chr2:178563051

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988973

rs_775499341

7 SubmittersRCV000608835 RCV000861017 RCV001704702 RCV001840690 RCV001840692 RCV001840689 RCV001840691 RCV002350441 RCV004543405

NM_001267550.2(TTN):c.80221A>G (p.Ser26741Gly)

SNV
Germline

Chr2:178565911

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA1989376

rs_750048032

2 SubmittersRCV000602705

NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala)

SNV
Germline

Chr2:178527479

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349399818

rs_1553477432

2 SubmittersRCV000608133 RCV000729995

NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)

SNV
Germline

Chr2:178574229

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Distal myopathy

Criteria Provided
Conflicting Classifications

CA1990570

rs_769320596

5 SubmittersRCV000616649 RCV000621844 RCV000734657 RCV005621982

NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys)

SNV
Germline

Chr2:178532166

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349411708

rs_1553488312

2 SubmittersRCV000607468 RCV003767703

NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn)

SNV
Germline

Chr2:178533650

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985676

rs_763242057

2 SubmittersRCV000604247 RCV003139918

NM_001267550.2(TTN):c.102363G>A (p.Lys34121=)

SNV
Germline

Chr2:178534252

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985764

rs_758224214

6 SubmittersRCV000868507 RCV001712651 RCV002395592

NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)

SNV
Germline

Chr2:178584682

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991814

rs_776272431

6 SubmittersRCV000610485 RCV000941159 RCV001492679 RCV002368101

NM_001267550.2(TTN):c.97192+6G>A

SNV
Germline

Chr2:178542656

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986616

rs_367760700

8 SubmittersRCV000607160 RCV000997344 RCV001133855 RCV001133851 RCV001133853 RCV001133852 RCV001133854 RCV005404724

NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)

SNV
Germline

Chr2:178592471

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992652

rs_201457934

4 SubmittersRCV000613768 RCV001133053 RCV001133054 RCV001133055 RCV001133056 RCV001132127 RCV003139925 RCV003486894

NM_001267550.2(TTN):c.55420G>A (p.Val18474Ile)

SNV
Germline

Chr2:178601670

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993460

rs_779583004

2 SubmittersRCV000600853 RCV006436852

NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys)

SNV
Germline

Chr2:178633467

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995998

rs_778634417

3 SubmittersRCV000601723 RCV000731255

NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)

SNV
Germline

Chr2:178549571

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987489

rs_182422055

7 SubmittersRCV000643779 RCV000845550 RCV001712645 RCV001729655 RCV002368073

NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala)

SNV
Germline

Chr2:178552994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1987856

rs_201220828

4 SubmittersRCV000609420 RCV000728767 RCV002368037 RCV005027720

NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)

SNV
Germline

Chr2:178553548

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430246073

rs_1553542686

6 SubmittersRCV000615384 RCV000727790 RCV002065418 RCV002368092

NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)

SNV
Germline

Chr2:178560743

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988652

rs_144731702

6 SubmittersRCV000728839 RCV001082174 RCV002358706 RCV004525983

NM_001267550.2(TTN):c.83925G>A (p.Lys27975=)

SNV
Germline

Chr2:178562207

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60985308

rs_1031543708

2 SubmittersRCV000612349 RCV003139913

NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)

SNV
Germline

Chr2:178645933

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996500

rs_766145596

6 SubmittersRCV000643597 RCV000730971 RCV000770047 RCV004735669

NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile)

SNV
Germline

Chr2:178530825

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985211

rs_770730954

2 SubmittersRCV000609354 RCV003139916

NM_001267550.2(TTN):c.33826+7G>A

SNV
Germline

Chr2:178678740

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998224

rs_752099208

3 SubmittersRCV000607148 RCV001134975 RCV001134976 RCV001134977 RCV001133484 RCV001133483 RCV003767692

NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)

SNV
Germline

Chr2:178530482

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1985159

rs_555476312

7 SubmittersRCV001337854 RCV001698004 RCV002420630 RCV004530797 RCV005404733

NM_001267550.2(TTN):c.77812T>A (p.Trp25938Arg)

SNV
Germline

Chr2:178568320

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA60991870

rs_1052501136

2 SubmittersRCV000601571

NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)

SNV
Germline

Chr2:178539813

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986406

rs_746586029

4 SubmittersRCV001704807 RCV002360472 RCV002298707

NM_001267550.2(TTN):c.28754-11T>C

SNV
Germline

Chr2:178707824

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999525

rs_146738622

4 SubmittersRCV001129949 RCV001129951 RCV001129952 RCV001129950 RCV001129953 RCV001718940 RCV002222564 RCV002064005

NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu)

SNV
Germline

Chr2:178548916

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987418

rs_370265204

3 SubmittersRCV001704837 RCV002360476

NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe)

SNV
Germline

Chr2:178534923

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60959765

rs_371930491

2 SubmittersRCV000603355 RCV001220251

NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu)

SNV
Germline

Chr2:178710798

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999616

rs_372608982

3 SubmittersRCV000600521 RCV001293147 RCV003139911

NM_001267550.2(TTN):c.98990-8T>C

SNV
Germline

Chr2:178538847

Conflicting classifications of pathogenicity

not specified
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430239751

rs_1553507751

4 SubmittersRCV000602889 RCV005027722 RCV005223050

NM_001267550.2(TTN):c.98606G>A (p.Arg32869His)

SNV
Germline

Chr2:178539459

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986349

rs_587780495

2 SubmittersRCV000599702 RCV000729223

NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)

SNV
Germline

Chr2:178542462

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986582

rs_72648267

5 SubmittersRCV000608252 RCV000733493 RCV001454601 RCV006342402

NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser)

SNV
Germline

Chr2:178544486

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA349458274

rs_1490243211

3 SubmittersRCV000607811 RCV003139934 RCV005027730

NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)

SNV
Germline

Chr2:178547243

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1987153

rs_190282707

4 SubmittersRCV000606918 RCV000867180 RCV003139907 RCV005027721

NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile)

SNV
Germline

Chr2:178554612

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60979994

rs_879204059

2 SubmittersRCV000616620 RCV003488727

NM_001267550.2(TTN):c.89645G>A (p.Ser29882Asn)

SNV
Germline

Chr2:178553255

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987886

rs_755022770

2 SubmittersRCV000614494 RCV004791625

NM_001267550.2(TTN):c.87341G>A (p.Arg29114Lys)

SNV
Germline

Chr2:178558013

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349537117

rs_1253866874

2 SubmittersRCV000607486 RCV002358700

NM_001267550.2(TTN):c.57594T>A (p.Asn19198Lys)

SNV
Germline

Chr2:178595760

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993018

rs_367606284

2 SubmittersRCV000613670 RCV005632521

NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)

SNV
Germline

Chr2:178557754

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988293

rs_750362675

7 SubmittersRCV000614303 RCV000643213 RCV001129288 RCV001129290 RCV001129286 RCV001129289 RCV001129287 RCV001698079

NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)

SNV
Germline

Chr2:178560261

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988576

rs_538641703

5 SubmittersRCV000769911 RCV000872544 RCV001707764 RCV002358690

NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)

SNV
Germline

Chr2:178563646

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989062

rs_554231442

9 SubmittersRCV000605403 RCV000643071 RCV001128736 RCV001128737 RCV001135733 RCV001135732 RCV001135734 RCV001702686 RCV002343157

NM_001267550.2(TTN):c.54811+8T>C

SNV
Germline

Chr2:178603868

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993574

rs_747409403

3 SubmittersRCV000604371 RCV001128851 RCV001135851 RCV001135852 RCV001135853 RCV001135850 RCV005213359

NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met)

SNV
Germline

Chr2:178565420

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989314

rs_773395582

3 SubmittersRCV000610049 RCV002343141 RCV003139921

NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)

SNV
Germline

Chr2:178568219

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989691

rs_72648203

7 SubmittersRCV000643038 RCV001133590 RCV001133591 RCV001135078 RCV001133592 RCV001133593 RCV001719124 RCV002334014 RCV006650297

NM_001267550.2(TTN):c.50254C>G (p.Pro16752Ala)

SNV
Germline

Chr2:178612157

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60986314

rs_938347047

2 SubmittersRCV000610045 RCV003150307

NM_001267550.2(TTN):c.77878G>A (p.Glu25960Lys)

SNV
Germline

Chr2:178568254

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1989698

rs_367624488

4 SubmittersRCV001718910 RCV005392170 RCV005407798

NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)

SNV
Germline

Chr2:178776609

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005205

rs_150737838

6 SubmittersRCV000729526 RCV001087612 RCV002298706 RCV002341551

NM_001267550.2(TTN):c.74895A>G (p.Gln24965=)

SNV
Germline

Chr2:178571237

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430255296

rs_201512527

4 SubmittersRCV000614728 RCV000643003 RCV005512778

NM_001267550.2(TTN):c.73705G>C (p.Val24569Leu)

SNV
Germline

Chr2:178572427

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990332

rs_755676676

3 SubmittersRCV000600032 RCV003883489

NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser)

SNV
Germline

Chr2:178571366

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990149

rs_372814940

4 SubmittersRCV001707815 RCV002331069

NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile)

SNV
Germline

Chr2:178576669

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349667482

rs_1319888327

2 SubmittersRCV000607552 RCV002331046

NM_001267550.2(TTN):c.69412+4T>G

SNV
Germline

Chr2:178576919

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1990945

rs_761388922

3 SubmittersRCV000610928 RCV003160079 RCV005898829

NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)

SNV
Germline

Chr2:178573657

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1990495

rs_371764714

3 SubmittersRCV001697501 RCV002331050 RCV003479172

NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)

SNV
Germline

Chr2:178777892

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2005343

rs_373690688

6 SubmittersRCV001132046 RCV001132042 RCV001132043 RCV001132044 RCV001132045 RCV001697352 RCV002331040 RCV003150298 RCV006692316

NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)

SNV
Germline

Chr2:178778922

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005395

rs_115303497

4 SubmittersRCV000610308 RCV000714029 RCV002358727

NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val)

SNV
Germline

Chr2:178779114

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005423

rs_774954394

2 SubmittersRCV000613184 RCV002358730

NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)

SNV
Germline

Chr2:178620374

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995298

rs_773073914

3 SubmittersRCV000606606 RCV001509193

NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)

SNV
Germline

Chr2:178793490

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006040

rs_768211726

4 SubmittersRCV000600232 RCV000731374

NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)

SNV
Germline

Chr2:178621869

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995514

rs_72677221

5 SubmittersRCV000861804 RCV001463863 RCV002404698

NM_001267550.2(TTN):c.44497G>A (p.Val14833Ile)

SNV
Germline

Chr2:178625324

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995627

rs_373168798

6 SubmittersRCV000615542 RCV002261128 RCV002413756 RCV004735672

NM_001267550.2(TTN):c.63834C>T (p.Val21278=)

SNV
Germline

Chr2:178587377

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60965319

rs_911870330

4 SubmittersRCV000643423 RCV001697906 RCV002456369

NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)

SNV
Germline

Chr2:178584921

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991849

rs_578085621

5 SubmittersRCV000621472 RCV000993467

NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr)

SNV
Germline

Chr2:178585102

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991878

rs_749070255

3 SubmittersRCV000600400 RCV002343148 RCV003139924

NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)

SNV
Germline

Chr2:178636788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996336

rs_777187629

4 SubmittersRCV000601150 RCV001508115 RCV002385941

NM_001267550.2(TTN):c.62939T>A (p.Met20980Lys)

SNV
Germline

Chr2:178588786

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349458764

rs_757789191

2 SubmittersRCV000607593 RCV006277933

NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)

SNV
Germline

Chr2:178594357

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992926

rs_376310289

3 SubmittersRCV000606520 RCV000817437 RCV002325145

NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)

SNV
Germline

Chr2:178589627

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992270

rs_151193056

6 SubmittersRCV000733501 RCV001082712 RCV002271538 RCV002457959

NM_001267550.2(TTN):c.39493G>A (p.Glu13165Lys)

SNV
Germline

Chr2:178651507

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996689

rs_747566528

3 SubmittersRCV000643141 RCV001704704

NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val)

SNV
Germline

Chr2:178651895

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996756

rs_761828404

2 SubmittersRCV000734658

NM_001267550.2(TTN):c.37414G>A (p.Glu12472Lys)

SNV
Germline

Chr2:178659044

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349485068

rs_1553782108

2 SubmittersRCV000616194 RCV004597836

NM_001267550.2(TTN):c.33826+4C>T

SNV
Germline

Chr2:178678743

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998227

rs_750851792

3 SubmittersRCV000616140 RCV001050242 RCV003432649

NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)

SNV
Germline

Chr2:178608721

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60982954

rs_990974705

3 SubmittersRCV000607729 RCV000731845 RCV002528689

NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)

SNV
Germline

Chr2:178590749

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992418

rs_370995867

6 SubmittersRCV000609383 RCV000868058 RCV002271537 RCV002457958

NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)

SNV
Germline

Chr2:178591794

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992562

rs_371988490

3 SubmittersRCV000614085 RCV002448896 RCV003139926

NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly)

SNV
Germline

Chr2:178707643

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA1999502

rs_367888853

3 SubmittersRCV000604462

NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)

SNV
Germline

Chr2:178597581

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993043

rs_780536141

5 SubmittersRCV000608241 RCV001459071 RCV003139909 RCV002498905 RCV004024911

NM_001267550.2(TTN):c.50268C>T (p.Tyr16756=)

SNV
Germline

Chr2:178612143

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994408

rs_748836778

5 SubmittersRCV001697489 RCV001463080 RCV001798919 RCV002448867

NM_001267550.2(TTN):c.49795G>A (p.Val16599Ile)

SNV
Germline

Chr2:178612926

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349600986

rs_1553699620

2 SubmittersRCV000614409 RCV006436854

NM_001267550.2(TTN):c.23114C>T (p.Thr7705Ile)

SNV
Germline

Chr2:178720648

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000697

rs_772162626

2 SubmittersRCV001704718

NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)

SNV
Germline

Chr2:178599645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993287

rs_111262307

5 SubmittersRCV000604468 RCV000729996 RCV001489575 RCV004025010

NM_001267550.2(TTN):c.42940G>A (p.Val14314Ile)

SNV
Germline

Chr2:178633419

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1995989

rs_376881525

4 SubmittersRCV001697353 RCV002404628 RCV003150299 RCV006692317

NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn)

SNV
Germline

Chr2:178636169

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996273

rs_757590541

2 SubmittersRCV000601853 RCV003139919

NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)

SNV
Germline

Chr2:178607867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430271034

rs_1553687219

4 SubmittersRCV000609030 RCV000728770 RCV002431811 RCV002531633

NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)

SNV
Germline

Chr2:178729437

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001552

rs_761993856

5 SubmittersRCV000610462 RCV000866810 RCV001417846

NM_001267550.2(TTN):c.39709+9G>C

SNV
Germline

Chr2:178650742

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996624

rs_765647346

7 SubmittersRCV000729144 RCV000617013 RCV001087109 RCV003150306

NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)

SNV
Germline

Chr2:178674347

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA1998012

rs_752903377

5 SubmittersRCV000615121 RCV000732481 RCV000769040 RCV005625703

NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)

SNV
Germline

Chr2:178624467

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995573

rs_571522834

4 SubmittersRCV000863336 RCV001719006 RCV006650287

NM_001267550.2(TTN):c.32806+5A>G

SNV
Germline

Chr2:178683994

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998526

rs_755370435

2 SubmittersRCV001707827 RCV006692350

NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)

SNV
Germline

Chr2:178642237

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349664595

rs_587780488

3 SubmittersRCV000729294 RCV001868069

NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)

SNV
Germline

Chr2:178758999

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004146

rs_376029089

6 SubmittersRCV000643800 RCV001707761 RCV002331042 RCV005404729

NM_001267550.2(TTN):c.9918G>A (p.Ala3306=)

SNV
Germline

Chr2:178764597

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004226

rs_533798702

5 SubmittersRCV001132366 RCV001133300 RCV001132365 RCV001133299 RCV001133301 RCV001171054 RCV001397167 RCV001722553 RCV002384312

NM_001267550.2(TTN):c.30930G>T (p.Lys10310Asn)

SNV
Germline

Chr2:178696142

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA60992282

rs_879244158

2 SubmittersRCV000605143

NM_001267550.2(TTN):c.8562G>A (p.Gln2854=)

SNV
Germline

Chr2:178770139

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004580

rs_375056408

3 SubmittersRCV001423311 RCV001718894 RCV002413719

NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr)

SNV
Germline

Chr2:178775374

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005037

rs_56285559

4 SubmittersRCV000864818 RCV001495656

NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile)

SNV
Germline

Chr2:178782423

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005605

rs_780035225

2 SubmittersRCV000615840 RCV003139917

NM_001267550.2(TTN):c.31208-13G>A

SNV
Germline

Chr2:178695423

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60992063

rs_377135196

3 SubmittersRCV000608575 RCV001132877 RCV001132878 RCV001132879 RCV001132880 RCV001136300 RCV002062858

NM_001267550.2(TTN):c.15775+15A>C

SNV
Germline

Chr2:178733599

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002166

rs_776801864

3 SubmittersRCV000610924 RCV001128874 RCV001131549 RCV001131550 RCV001128872 RCV001128873 RCV002063204

NM_001267550.2(TTN):c.10244C>T (p.Thr3415Met)

SNV
Germline

Chr2:178759043

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004151

rs_761799688

4 SubmittersRCV000864085 RCV001698007

NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr)

SNV
Germline

Chr2:178729783

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001612

rs_371882162

5 SubmittersRCV000605914 RCV001133506 RCV001133507 RCV001134999 RCV001133508 RCV001135000 RCV001724082

NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)

SNV
Germline

Chr2:178739775

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002579

rs_748885610

5 SubmittersRCV000733611 RCV001079895 RCV002377324

NM_001267550.2(TTN):c.9523G>A (p.Val3175Ile)

SNV
Germline

Chr2:178766561

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004295

rs_762667276

2 SubmittersRCV000608804 RCV005632518

NM_001267550.2(TTN):c.5296G>A (p.Val1766Ile)

SNV
Germline

Chr2:178776568

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005200

rs_149494502

3 SubmittersRCV001722558 RCV005404725

NM_001267550.2(TTN):c.3086A>G (p.Tyr1029Cys)

SNV
Germline

Chr2:178782820

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005655

rs_774126306

2 SubmittersRCV000600106 RCV006277935

NM_001267550.2(TTN):c.2301A>G (p.Arg767=)

SNV
Germline

Chr2:178785917

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005861

rs_746831560

6 SubmittersRCV000602294 RCV000643047 RCV002431826 RCV003139935 RCV004544804

NM_001267550.2(TTN):c.7331-3C>T

SNV
Germline

Chr2:178773728

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004826

rs_772008843

2 SubmittersRCV000601271 RCV002377273

NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)

SNV
Germline

Chr2:178776975

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005249

rs_371601918

3 SubmittersRCV000600001 RCV002334003 RCV003139923

NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)

SNV
Germline

Chr2:178783052

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005693

rs_373848402

3 SubmittersRCV000608868 RCV002431798 RCV003139920

NM_001267550.2(TTN):c.197C>T (p.Thr66Met)

SNV
Germline

Chr2:178802236

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA2006395

rs_372755739

4 SubmittersRCV000613481 RCV003486892 RCV005392168

NM_001267550.2(TTN):c.1584C>T (p.Ser528=)

SNV
Germline

Chr2:178792150

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006008

rs_267599093

4 SubmittersRCV000612650 RCV001392629 RCV004678763 RCV005632519

NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)

SNV
Germline

Chr2:178527548

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60949220

rs_1009131948

6 SubmittersRCV000619039 RCV001004985 RCV001389433 RCV002483701 RCV003151795 RCV006699303

NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp)

SNV
Germline

Chr2:178531435

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349409323

rs_56308529

3 SubmittersRCV000621956 RCV001860374 RCV006459674

NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)

SNV
Germline

Chr2:178536105

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986011

rs_773561397

8 SubmittersRCV000617509 RCV001508099 RCV005404750

NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)

SNV
Germline

Chr2:178537051

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986083

rs_138234724

4 SubmittersRCV000617377 RCV000643506 RCV001562342 RCV005404747

NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)

SNV
Germline

Chr2:178548050

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987279

rs_377521708

3 SubmittersRCV000621164 RCV001129495 RCV001129496 RCV001132226 RCV001132227 RCV001132228 RCV001496580

NM_001267550.2(TTN):c.91565-1G>A

SNV
Germline

Chr2:178550274

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349500060

rs_775248181

1 SubmittersRCV000618516

NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)

SNV
Germline

Chr2:178551787

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349503675

rs_1553538469

1 SubmittersRCV000619489

NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)

SNV
Germline

Chr2:178553348

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987895

rs_774885355

5 SubmittersRCV000617857 RCV000765547 RCV002261131 RCV004527683

NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)

SNV
Germline

Chr2:178555037

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349527671

rs_1553547657

2 SubmittersRCV000617567 RCV000642747

NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)

SNV
Germline

Chr2:178559512

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349542598

rs_765852996

2 SubmittersRCV000618263 RCV005209519

NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr)

SNV
Germline

Chr2:178564323

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989152

rs_368527797

4 SubmittersRCV000618605 RCV001293051 RCV003139944 RCV005240333

NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)

SNV
Germline

Chr2:178564395

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989164

rs_367603381

4 SubmittersRCV000621288 RCV000764311 RCV000730566 RCV005404753

NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)

SNV
Germline

Chr2:178565923

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989377

rs_566764105

3 SubmittersRCV000619393 RCV000839813 RCV003235309

NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)

SNV
Germline

Chr2:178568132

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430253396

rs_1178033234

3 SubmittersRCV000620834 RCV002060665 RCV003139942

NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)

SNV
Germline

Chr2:178568830

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1989796

rs_541266544

4 SubmittersRCV000620531 RCV000871033 RCV002066934

NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)

SNV
Germline

Chr2:178568905

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349611790

rs_765997807

2 SubmittersRCV000621085 RCV001231073

NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)

SNV
Germline

Chr2:178570081

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989959

rs_201839118

5 SubmittersRCV000620012 RCV002225687

NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)

SNV
Germline

Chr2:178570158

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA349618632

rs_1553602546

3 SubmittersRCV000618810 RCV000800140 RCV003319989

NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)

SNV
Germline

Chr2:178572349

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990313

rs_543275318

6 SubmittersRCV000621417 RCV000643363 RCV001170334 RCV001597186 RCV004544807

NM_001267550.2(TTN):c.70331C>G (p.Pro23444Arg)

SNV
Germline

Chr2:178575801

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349663358

rs_1325284144

2 SubmittersRCV000622183 RCV003486898

NM_001267550.2(TTN):c.64715T>C (p.Ile21572Thr)

SNV
Germline

Chr2:178584926

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991851

rs_765749707

2 SubmittersRCV000620383 RCV006650302

NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val)

SNV
Germline

Chr2:178589114

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992201

rs_767670018

4 SubmittersRCV000618178 RCV001130546 RCV001130542 RCV001130544 RCV001130543 RCV001130545 RCV001578203 RCV005407806

NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)

SNV
Germline

Chr2:178592545

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349493406

rs_1250461669

5 SubmittersRCV000622152 RCV001594400 RCV003767781 RCV004525986 RCV004797841

NM_001267550.2(TTN):c.53288-1G>C

SNV
Germline

Chr2:178607315

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349565409

rs_1553685927

1 SubmittersRCV000617300

NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter)

SNV
Germline

Chr2:178611568

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349593760

rs_1553696233

1 SubmittersRCV000619152

NM_001267550.2(TTN):c.50396T>G (p.Val16799Gly)

SNV
Germline

Chr2:178611913

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349596392

rs_1222977459

2 SubmittersRCV000620393 RCV003437329

NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)

SNV
Germline

Chr2:178612851

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349600656

rs_1471414348

3 SubmittersRCV000617825 RCV001239022 RCV004796251

NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)

SNV
Germline

Chr2:178612863

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349600711

rs_1553699454

2 SubmittersRCV000617296 RCV001860375

NM_001267550.2(TTN):c.47090G>A (p.Arg15697His)

SNV
Germline

Chr2:178618368

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995123

rs_757663389

5 SubmittersRCV000621977 RCV002483711 RCV005404752 RCV005632527

NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)

SNV
Germline

Chr2:178620044

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995256

rs_377564388

7 SubmittersRCV000621523 RCV000765571 RCV001557404 RCV005404744

NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter)

SNV
Germline

Chr2:178621102

Likely pathogenic

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60993942

rs_796314079

2 SubmittersRCV000619746 RCV006459677

NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr)

SNV
Germline

Chr2:178621120

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995411

rs_752318420

3 SubmittersRCV000618337 RCV000840349

NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)

SNV
Germline

Chr2:178632751

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995904

rs_529018517

6 SubmittersRCV000617443 RCV000871034 RCV001473643 RCV004533274

NM_001267550.2(TTN):c.11692T>G (p.Tyr3898Asp)

SNV
Germline

Chr2:178741541

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349620002

rs_1553941743

3 SubmittersRCV000622248 RCV003486899 RCV004820065

NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)

SNV
Germline

Chr2:178768899

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004474

rs_368525666

6 SubmittersRCV000621563 RCV001170096 RCV001396119 RCV002282265 RCV002491311 RCV003432653

NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr)

SNV
Germline

Chr2:178776970

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA349459712

rs_1250136125

2 SubmittersRCV000621318 RCV005404749

NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)

SNV
Germline

Chr2:178782871

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005663

rs_368885310

5 SubmittersRCV000618628 RCV000643738 RCV000728296

NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr2:178785912

Conflicting classifications of pathogenicity

Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA60982751

rs_979110143

3 SubmittersRCV000621901 RCV002477345 RCV005435064

NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)

SNV
Germline

Chr2:178786129

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349502198

rs_1554023044

2 SubmittersRCV000620965 RCV006556438

NM_001267550.2(TTN):c.111G>C (p.Val37=)

SNV
Germline

Chr2:178802322

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2006414

rs_373923523

5 SubmittersRCV000619184 RCV000867668 RCV000769151 RCV005404741

NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)

SNV
Germline

Chr2:178552194

Pathogenic/Likely pathogenic

Primary familial dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349507301

rs_974510652

2 SubmittersRCV000624039 RCV006272391

NM_001267550.2(TTN):c.66770-2A>C

SNV
Germline

Chr2:178580611

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349426176

rs_1553624468

3 SubmittersRCV001067918 RCV005400737

NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)

SNV
Germline

Chr2:178609842

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349584257

rs_1553692290

1 SubmittersRCV005400738

NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter)

SNV
Germline

Chr2:178641253

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA61009952

rs_869238992

1 SubmittersRCV000623590

NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)

SNV
Germline

Chr2:178546425

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987045

rs_776793953

2 SubmittersRCV000625860 RCV000871094

NM_001267550.2(TTN):c.33826+1G>A

SNV
Germline

Chr2:178678746

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349532964

rs_1389908421

5 SubmittersRCV000625949 RCV001771842 RCV001860469 RCV005627376

NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)

SNV
Unknown

Chr2:178790737

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349507909

rs_747286444

1 SubmittersRCV000625926

NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu)

SNV
Germline

Chr2:178692532

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998893

rs_753460621

2 SubmittersRCV000626132 RCV002510937

NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)

SNV
Unknown

Chr2:178781157

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349483247

rs_1554015228

1 SubmittersRCV000626128

NM_001267550.2(TTN):c.20836+1G>A

SNV
Unknown

Chr2:178725367

Pathogenic

Noncompaction cardiomyopathy

Criteria Provided
Single Submitter

CA349540437

rs_1553915256

1 SubmittersRCV000626788

NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)

SNV
Germline

Chr2:178552907

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349514407

rs_376543931

4 SubmittersRCV000627373 RCV002467946 RCV003767844 RCV006725907

NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter)

SNV
Germline

Chr2:178571303

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349630890

rs_1553604563

1 SubmittersRCV000627384

NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)

SNV
Germline

Chr2:178531524

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985308

rs_552058608

6 SubmittersRCV000643471 RCV001577593 RCV002406402 RCV005405231

NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)

SNV
Germline

Chr2:178532100

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349411489

rs_1553488049

5 SubmittersRCV000642787 RCV001784217 RCV002397233 RCV003486902

NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)

SNV
Germline

Chr2:178529980

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985096

rs_575070622

5 SubmittersRCV000643595 RCV000997312 RCV002422318

NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)

SNV
Germline

Chr2:178546246

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987023

rs_746787955

5 SubmittersRCV000642781 RCV001131745 RCV001131741 RCV001131742 RCV001131743 RCV001131744 RCV002473086 RCV003162901

NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)

SNV
Germline

Chr2:178538575

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986231

rs_777035261

6 SubmittersRCV000643240 RCV000764300 RCV000836270 RCV002369697 RCV004533356

NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)

SNV
Germline

Chr2:178548152

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987297

rs_750803038

5 SubmittersRCV000643714 RCV000768858 RCV001555172 RCV002307570 RCV002360587

NM_001267550.2(TTN):c.96445A>G (p.Met32149Val)

SNV
Germline

Chr2:178543528

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA60969988

rs_972033083

2 SubmittersRCV000642792 RCV005405219

NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)

SNV
Germline

Chr2:178550169

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349499329

rs_1553536305

4 SubmittersRCV000642740 RCV002360580 RCV004588068 RCV006556483

NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)

SNV
Germline

Chr2:178544246

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986845

rs_776682000

7 SubmittersRCV000643644 RCV001170756 RCV002360586 RCV003140014 RCV005405233

NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)

SNV
Germline

Chr2:178548829

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349490836

rs_1553532356

4 SubmittersRCV000642695 RCV002360579 RCV005431833 RCV005414518

NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)

SNV
Germline

Chr2:178547177

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987145

rs_541040798

5 SubmittersRCV000727707 RCV001088556 RCV001195179 RCV004544861

NM_001267550.2(TTN):c.94220-1G>A

SNV
Germline

Chr2:178547306

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349476428

rs_1553525592

1 SubmittersRCV000642799

NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)

SNV
Germline

Chr2:178527739

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349401143

rs_1553478042

6 SubmittersRCV000642697 RCV000762291 RCV003987639

NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)

SNV
Germline

Chr2:178560294

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988580

rs_368615862

4 SubmittersRCV000643460 RCV000764306 RCV005405230 RCV005632557

NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)

SNV
Germline

Chr2:178560682

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988640

rs_56330345

4 SubmittersRCV000643310 RCV003139993 RCV005405228

NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)

SNV
Germline

Chr2:178557504

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988262

rs_757300589

9 SubmittersRCV000643059 RCV000727830 RCV001193773 RCV002358829 RCV003486903

NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)

SNV
Germline

Chr2:178562860

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Amyloidosis, hereditary systemic 1
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988949

rs_188323108

7 SubmittersRCV000643302 RCV001085404 RCV000825689 RCV000852804 RCV001293123 RCV004533357

NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)

SNV
Germline

Chr2:178565904

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989375

rs_368263400

5 SubmittersRCV000643444 RCV002483848 RCV002343297 RCV002509489 RCV003140004

NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)

SNV
Germline

Chr2:178535176

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA60959919

rs_72629781

3 SubmittersRCV000642889 RCV002386070 RCV002477417

NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)

SNV
Germline

Chr2:178568057

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349603821

rs_1553597198

1 SubmittersRCV000642778

NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met)

SNV
Germline

Chr2:178568351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA349604843

rs_1226545466

3 SubmittersRCV000643123 RCV005405225

NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)

SNV
Germline

Chr2:178563253

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349570886

rs_747365357

3 SubmittersRCV000642770 RCV005630772

NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)

SNV
Germline

Chr2:178560377

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349548137

rs_1553562490

1 SubmittersRCV000642803

NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)

SNV
Germline

Chr2:178571121

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60996599

rs_909041164

3 SubmittersRCV000643357 RCV001171269 RCV003139997

NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)

SNV
Germline

Chr2:178563684

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60987026

rs_937111656

3 SubmittersRCV000642919 RCV000828354 RCV002343288

NM_001267550.2(TTN):c.79068A>G (p.Glu26356=)

SNV
Germline

Chr2:178567064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989532

rs_375454098

6 SubmittersRCV000642723 RCV003162900 RCV003488754 RCV004692011

NM_001267550.2(TTN):c.78756T>C (p.Ile26252=)

SNV
Germline

Chr2:178567376

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989568

rs_372319281

4 SubmittersRCV000643543 RCV001089358 RCV001132540 RCV001129847 RCV001132537 RCV001132538 RCV001132539 RCV003162905

NM_001267550.2(TTN):c.96311-4T>C

SNV
Germline

Chr2:178543666

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA658795968

rs_1553518208

2 SubmittersRCV000643374 RCV002360585

NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys)

SNV
Germline

Chr2:178570063

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1989958

rs_145437410

2 SubmittersRCV000642962 RCV001134105 RCV001134106 RCV001134107 RCV001134108 RCV001134104

NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)

SNV
Germline

Chr2:178571494

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349632580

rs_1553604869

1 SubmittersRCV000642783

NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)

SNV
Germline

Chr2:178547120

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349474274

rs_1553524697

4 SubmittersRCV000642818 RCV002360581 RCV004764935 RCV004773061

NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)

SNV
Germline

Chr2:178573901

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430257545

rs_1423712037

3 SubmittersRCV000643474 RCV000997397 RCV002331184

NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)

SNV
Germline

Chr2:178576317

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1990873

rs_758398301

7 SubmittersRCV000643511 RCV001566439 RCV003150315 RCV003323653

NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)

SNV
Germline

Chr2:178548721

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1987388

rs_754767262

5 SubmittersRCV000643822 RCV002360589 RCV004545797 RCV004692016 RCV005405235

NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)

SNV
Germline

Chr2:178569433

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989872

rs_3813244

6 SubmittersRCV000643032 RCV001131018 RCV001131020 RCV001131017 RCV001131019 RCV001131021 RCV001584482 RCV003235323

NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)

SNV
Germline

Chr2:178570045

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1989955

rs_757511354

3 SubmittersRCV000643501 RCV002222577

NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)

SNV
Germline

Chr2:178576175

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990856

rs_540840413

4 SubmittersRCV000642856 RCV000732767

NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)

SNV
Germline

Chr2:178578002

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991092

rs_372075439

6 SubmittersRCV000642737 RCV001584480 RCV001798938 RCV002331178 RCV006692431

NM_001267550.2(TTN):c.68825-7T>A

SNV
Germline

Chr2:178577517

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991025

rs_767881914

5 SubmittersRCV000643819 RCV001584484 RCV003323654 RCV003150317

NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)

SNV
Germline

Chr2:178579133

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349422569

rs_1553621179

1 SubmittersRCV000642769

NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)

SNV
Germline

Chr2:178573140

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990428

rs_755174224

4 SubmittersRCV000735174 RCV001086989 RCV002334128

NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser)

SNV
Germline

Chr2:178574827

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990651

rs_776889753

2 SubmittersRCV000643789 RCV000829330

NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln)

SNV
Germline

Chr2:178580601

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991432

rs_553988103

5 SubmittersRCV000643890 RCV000840893 RCV005405237

NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)

SNV
Germline

Chr2:178582399

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991587

rs_372989710

4 SubmittersRCV000643165 RCV000729834 RCV005772009

NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys)

SNV
Germline

Chr2:178562722

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988922

rs_759095633

3 SubmittersRCV000643528 RCV001592791 RCV002343298

NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)

SNV
Germline

Chr2:178583616

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991684

rs_752176305

3 SubmittersRCV000643247 RCV003139988

NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)

SNV
Germline

Chr2:178563782

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349573976

rs_1060503941

1 SubmittersRCV000642779

NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)

SNV
Germline

Chr2:178591418

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349485552

rs_1553644307

3 SubmittersRCV000642774 RCV000768973 RCV002325257

NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)

SNV
Germline

Chr2:178591627

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA430266829

rs_1215674180

2 SubmittersRCV000643889 RCV001129301 RCV001129302 RCV001129303 RCV001129304 RCV001136290

NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)

SNV
Germline

Chr2:178570316

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1989998

rs_770708534

4 SubmittersRCV000642711 RCV003162899 RCV002493004 RCV004689823

NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr)

SNV
Germline

Chr2:178592972

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992710

rs_763636451

4 SubmittersRCV000643116 RCV005438015 RCV005632551

NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)

SNV
Germline

Chr2:178593334

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349501161

rs_1553649122

2 SubmittersRCV000642718 RCV005772007

NM_001267550.2(TTN):c.52406-2A>C

SNV
Germline

Chr2:178608479

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993995

rs_753798236

5 SubmittersRCV000642796 RCV001784218 RCV002458070

NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr)

SNV
Germline

Chr2:178572310

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990308

rs_750166986

2 SubmittersRCV000643293 RCV002331181

NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile)

SNV
Germline

Chr2:178611175

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994274

rs_116765281

5 SubmittersRCV000642936 RCV000828852 RCV002458072

NM_001267550.2(TTN):c.52385T>A (p.Leu17462His)

SNV
Germline

Chr2:178608626

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA349574356

rs_1216814159

2 SubmittersRCV000642948 RCV005405222

NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)

SNV
Germline

Chr2:178579345

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1991252

rs_776797528

3 SubmittersRCV000642995 RCV002499085 RCV005405223

NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)

SNV
Germline

Chr2:178612103

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994397

rs_370782852

3 SubmittersRCV000643731 RCV002449023 RCV003140021

NM_001267550.2(TTN):c.49698A>G (p.Thr16566=)

SNV
Germline

Chr2:178613023

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994530

rs_778112130

2 SubmittersRCV000642722 RCV002424455

NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)

SNV
Germline

Chr2:178588152

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349454778

rs_1553638539

1 SubmittersRCV000642738

NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)

SNV
Germline

Chr2:178588829

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992168

rs_767887086

3 SubmittersRCV000643920 RCV000765562 RCV002458077

NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)

SNV
Germline

Chr2:178620958

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995385

rs_371621174

3 SubmittersRCV000643380 RCV001001219 RCV001568469

NM_001267550.2(TTN):c.44913+1G>T

SNV
Germline

Chr2:178622669

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349638533

rs_1553721106

2 SubmittersRCV000642808 RCV005512786

NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile)

SNV
Germline

Chr2:178652521

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1996878

rs_767090806

2 SubmittersRCV000643370 RCV005405229

NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)

SNV
Germline

Chr2:178625279

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995621

rs_759373140

3 SubmittersRCV000643312 RCV002397237 RCV003139994

NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)

SNV
Germline

Chr2:178629376

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995672

rs_367744803

3 SubmittersRCV000642865 RCV003303035 RCV003139975

NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)

SNV
Germline

Chr2:178597694

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349521015

rs_1553659628

2 SubmittersRCV000642821 RCV005512788

NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)

SNV
Germline

Chr2:178663819

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1997482

rs_371317962

3 SubmittersRCV000643204 RCV000765580 RCV005405226

NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)

SNV
Germline

Chr2:178706647

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999420

rs_368073588

3 SubmittersRCV000643099 RCV001577490

NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)

SNV
Germline

Chr2:178711085

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999652

rs_760466007

3 SubmittersRCV000643201 RCV000828989

NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe)

SNV
Germline

Chr2:178712495

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1999808

rs_186857044

5 SubmittersRCV000643598 RCV000769905 RCV001561069 RCV005027761

NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)

SNV
Germline

Chr2:178608698

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349575049

rs_1356720044

3 SubmittersRCV000643749 RCV003140023 RCV005628267

NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)

SNV
Germline

Chr2:178718173

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000336

rs_778611558

5 SubmittersRCV000643127 RCV000828678

NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val)

SNV
Germline

Chr2:178610351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994231

rs_188395969

4 SubmittersRCV000643244 RCV002449022 RCV003139987 RCV003486904

NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)

SNV
Germline

Chr2:178614664

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994734

rs_368527534

5 SubmittersRCV000642785 RCV001131286 RCV001131283 RCV001131284 RCV001131285 RCV001131287 RCV001805774 RCV002424456 RCV006277964

NM_001267550.2(TTN):c.18589+4C>T

SNV
Germline

Chr2:178729660

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA538437743

rs_1449021840

2 SubmittersRCV000643175 RCV003326481

NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)

SNV
Germline

Chr2:178712572

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999819

rs_375907742

6 SubmittersRCV000643429 RCV000727799 RCV000852885

NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)

SNV
Germline

Chr2:178675081

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349524427

rs_1441434215

6 SubmittersRCV000642807 RCV001170391 RCV002285385 RCV002477416 RCV004545796

NM_001267550.2(TTN):c.48461-2A>C

SNV
Germline

Chr2:178615486

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349609475

rs_1553705079

1 SubmittersRCV000642823

NM_001267550.2(TTN):c.15475A>G (p.Met5159Val)

SNV
Germline

Chr2:178734349

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA349593910

rs_1553929310

2 SubmittersRCV000643104 RCV005405224

NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)

SNV
Germline

Chr2:178740917

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349615627

rs_1553940122

4 SubmittersRCV000642815 RCV004017705 RCV004025646

NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)

SNV
Germline

Chr2:178717719

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000274

rs_772383867

2 SubmittersRCV000643699 RCV003140019

NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)

SNV
Germline

Chr2:178695916

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999021

rs_772195716

8 SubmittersRCV000643143 RCV000756840 RCV001129323 RCV001136307 RCV001129321 RCV001136306 RCV001129322 RCV002222576

NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)

SNV
Germline

Chr2:178617921

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995046

rs_373878153

4 SubmittersRCV000643320 RCV002422316 RCV003139995 RCV004533358

NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu)

SNV
Germline

Chr2:178782939

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005674

rs_376548316

3 SubmittersRCV000642830 RCV002440296 RCV005000440

NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro)

SNV
Germline

Chr2:178725625

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA60974941

rs_767944090

4 SubmittersRCV000643304 RCV002499090 RCV004689824

NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)

SNV
Germline

Chr2:178784101

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60982422

rs_376922544

4 SubmittersRCV000643659 RCV002440300 RCV003140015 RCV003486906

NM_001267550.2(TTN):c.2061A>G (p.Gln687=)

SNV
Germline

Chr2:178789375

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005916

rs_188680791

6 SubmittersRCV000642833 RCV000828783 RCV002406396

NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)

SNV
Germline

Chr2:178799502

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006201

rs_376737897

4 SubmittersRCV000643132 RCV001532889 RCV001570946

NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)

SNV
Germline

Chr2:178633827

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1996037

rs_368155350

6 SubmittersRCV000727963 RCV001088633 RCV002397239 RCV005000443

NM_001267550.2(TTN):c.41609-2A>G

SNV
Germline

Chr2:178635717

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349657872

rs_730880244

2 SubmittersRCV000642788 RCV006699306

NM_001267550.2(TTN):c.20837-1G>A

SNV
Germline

Chr2:178724539

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349540261

rs_1553914337

1 SubmittersRCV000643014

NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr)

SNV
Germline

Chr2:178640628

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349664050

rs_1393076582

2 SubmittersRCV000643408 RCV001592790

NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)

SNV
Germline

Chr2:178650179

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996603

rs_759268958

3 SubmittersRCV000643397 RCV000829106

NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)

SNV
Germline

Chr2:178727808

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001339

rs_775289296

9 SubmittersRCV000828821 RCV001136412 RCV001129430 RCV001129432 RCV001129431 RCV001129433 RCV001494210 RCV001729671 RCV003486905 RCV004533362

NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter)

SNV
Germline

Chr2:178770427

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349677563

rs_1553995241

1 SubmittersRCV000642817

NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg)

SNV
Germline

Chr2:178781258

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005562

rs_181375012

3 SubmittersRCV000643497 RCV001132372 RCV001132368 RCV001132369 RCV001132370 RCV001132371 RCV002325259

NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)

SNV
Germline

Chr2:178786135

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2005898

rs_747479318

4 SubmittersRCV000643879 RCV002493021 RCV005405236

NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp)

SNV
Germline

Chr2:178741566

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2002818

rs_377423256

6 SubmittersRCV000643248 RCV001556473 RCV002397236 RCV004799227 RCV006650344

NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)

SNV
Germline

Chr2:178756410

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2003996

rs_527924868

5 SubmittersRCV000642895 RCV001729669 RCV002469230

NM_001267550.2(TTN):c.25640-8T>C

SNV
Germline

Chr2:178715782

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796052

rs_1184501172

2 SubmittersRCV000643916 RCV000997526

NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala)

SNV
Germline

Chr2:178719394

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2000518

rs_750389762

2 SubmittersRCV000643801 RCV005628268

NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser)

SNV
Germline

Chr2:178727629

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001303

rs_751222632

6 SubmittersRCV000643575 RCV003150316 RCV005392210 RCV005632561 RCV006650345

NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)

SNV
Germline

Chr2:178784078

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA2005742

rs_369195237

6 SubmittersRCV000642896 RCV001192387 RCV001592788 RCV002424457 RCV005392209

NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)

SNV
Germline

Chr2:178785858

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005850

rs_143444636

5 SubmittersRCV000642937 RCV001570866 RCV002424459

NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)

SNV
Germline

Chr2:178735573

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2002333

rs_530572005

5 SubmittersRCV000643013 RCV000713972 RCV001129110 RCV001129111 RCV001129112 RCV001129113 RCV001131798

NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro)

SNV
Germline

Chr2:178756717

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60993591

rs_370496599

2 SubmittersRCV000643065 RCV001662694

NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)

SNV
Germline

Chr2:178529960

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985094

rs_768786354

3 SubmittersRCV000692362 RCV002422499 RCV005632633

NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)

SNV
Germline

Chr2:178564409

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349578454

rs_769821404

3 SubmittersRCV000700627 RCV002533595 RCV004026518

NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)

SNV
Germline

Chr2:178564882

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989234

rs_371498697

4 SubmittersRCV000689623 RCV000734994 RCV002265860

NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)

SNV
Germline

Chr2:178531844

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349410960

rs_1559003939

2 SubmittersRCV000706582 RCV001375607

NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)

SNV
Germline

Chr2:178534424

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA60959410

rs_149921607

5 SubmittersRCV000694038 RCV001574407 RCV002388252 RCV005240480

NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)

SNV
Germline

Chr2:178604269

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1993628

rs_747236787

6 SubmittersRCV000703169 RCV001560483 RCV002424697 RCV003336156 RCV004764937

NM_001267550.2(TTN):c.53287+1G>A

SNV
Germline

Chr2:178607400

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349565478

rs_1064794266

2 SubmittersRCV000702993 RCV000825481

NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)

SNV
Germline

Chr2:178552705

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60977857

rs_920201335

1 SubmittersRCV000705861

NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)

SNV
Germline

Chr2:178608371

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349573283

rs_1559748120

2 SubmittersRCV000686946 RCV006725935

NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)

SNV
Germline

Chr2:178560816

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988662

rs_764437671

6 SubmittersRCV000692384 RCV001288137 RCV002352142 RCV003330904

NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)

SNV
Germline

Chr2:178629402

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995675

rs_540115992

7 SubmittersRCV000694203 RCV002397410 RCV000756842

NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)

SNV
Germline

Chr2:178566834

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349598018

rs_1559355268

1 SubmittersRCV000698437

NM_001267550.2(TTN):c.40409-2A>C

SNV
Germline

Chr2:178644618

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349438470

rs_1560046529

1 SubmittersRCV000700267

NM_001267550.2(TTN):c.27329-1G>T

SNV
Germline

Chr2:178712594

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349454177

rs_1378646156

2 SubmittersRCV000699169 RCV004696980

NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)

SNV
Germline

Chr2:178586549

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1991920

rs_777425925

2 SubmittersRCV000703467 RCV003130016

NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)

SNV
Germline

Chr2:178586790

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60963511

rs_748901968

4 SubmittersRCV000693779 RCV001133596 RCV001133597 RCV001133598 RCV001133594 RCV001133595 RCV003140100 RCV005405271

NM_001267550.2(TTN):c.15218-2A>G

SNV
Germline

Chr2:178734608

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60981489

rs_1004898711

1 SubmittersRCV000704683

NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)

SNV
Germline

Chr2:178592056

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349489453

rs_1559598775

6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV005223127 RCV004792399

NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)

SNV
Germline

Chr2:178599644

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349533663

rs_1559669986

3 SubmittersRCV000687895 RCV003432730 RCV005502874

NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)

SNV
Germline

Chr2:178602118

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349544197

rs_1559696193

2 SubmittersRCV000703571 RCV006699320

NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)

SNV
Germline

Chr2:178609467

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579792

rs_1559759828

1 SubmittersRCV000687274

NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter)

SNV
Germline

Chr2:178649817

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996566

rs_758166967

2 SubmittersRCV000698813 RCV002223918

NM_001267550.2(TTN):c.32555-2A>C

SNV
Germline

Chr2:178684751

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1998599

rs_781581062

4 SubmittersRCV000694879 RCV000734886 RCV002485680

NM_001267550.2(TTN):c.16621+1G>T

SNV
Germline

Chr2:178732439

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002009

rs_761965693

2 SubmittersRCV000702953 RCV005411547

NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr2:178795128

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349518911

rs_1561470471

1 SubmittersRCV000706321

NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)

SNV
Germline

Chr2:178532670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349412882

rs_995029896

2 SubmittersRCV000691303 RCV006270420

NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)

SNV
Germline

Chr2:178534887

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349419783

rs_943777958

2 SubmittersRCV000703837 RCV002386262

NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)

SNV
Germline

Chr2:178609301

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349578190

rs_1343120755

5 SubmittersRCV000706544 RCV002424719 RCV004719969 RCV005253088

NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)

SNV
Germline

Chr2:178621183

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349633707

rs_1559877046

2 SubmittersRCV000706720 RCV000852524

NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)

SNV
Germline

Chr2:178630923

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1995766

rs_776970935

4 SubmittersRCV000692897 RCV002406576 RCV003486918 RCV005645155

NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)

SNV
Germline

Chr2:178634766

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655875

rs_1311474144

1 SubmittersRCV000694663

NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)

SNV
Germline

Chr2:178665777

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349505679

rs_1266298136

5 SubmittersRCV000685825 RCV002223904 RCV002493142 RCV004535706

NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)

SNV
Germline

Chr2:178740529

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610806

rs_1253161767

1 SubmittersRCV000690185

NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter)

SNV
Germline

Chr2:178740875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2002729

rs_746184552

1 SubmittersRCV000690826

NM_001267550.2(TTN):c.89503+1G>C

SNV
Germline

Chr2:178553501

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349518134

rs_1559218619

1 SubmittersRCV000705661

NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)

SNV
Germline

Chr2:178564062

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989121

rs_754175266

3 SubmittersRCV000687721 RCV001131502 RCV001131504 RCV001131500 RCV001131501 RCV001131503 RCV001289396

NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)

SNV
Germline

Chr2:178567498

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349601823

rs_1559362000

2 SubmittersRCV000694614 RCV006741295

NM_001267550.2(TTN):c.76967A>G (p.His25656Arg)

SNV
Germline

Chr2:178569165

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989841

rs_755172663

2 SubmittersRCV000697933 RCV002334337

NM_001267550.2(TTN):c.59926+1G>A

SNV
Germline

Chr2:178591977

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA60970255

rs_553526525

12 SubmittersRCV000696084 RCV001528301 RCV001594401 RCV003486921 RCV004026362 RCV004735753

NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)

SNV
Germline

Chr2:178601337

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349538603

rs_1483931960

10 SubmittersRCV000700102 RCV002223920 RCV002440503 RCV002477607 RCV003227836 RCV003237351 RCV006692593

NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)

SNV
Germline

Chr2:178609774

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349583499

rs_1060500503

4 SubmittersRCV000695631 RCV002223915 RCV002493201

NM_001267550.2(TTN):c.49345+2T>C

SNV
Germline

Chr2:178614050

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349605138

rs_1559805633

2 SubmittersRCV000698753 RCV006342495

NM_001267550.2(TTN):c.32555-1G>A

SNV
Germline

Chr2:178684750

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60985257

rs_932486601

1 SubmittersRCV000696272

NM_001267550.2(TTN):c.15497-2A>G

SNV
Germline

Chr2:178733894

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA349593557

rs_1232334931

3 SubmittersRCV000695112 RCV002223914 RCV002493196

NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)

SNV
Germline

Chr2:178773555

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA2004802

rs_781459488

2 SubmittersRCV000701241 RCV004026547

NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)

SNV
Germline

Chr2:178773558

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA349680106

rs_1561253718

3 SubmittersRCV000703270 RCV002386259 RCV002485742

NM_001267550.2(TTN):c.2371-1G>A

SNV
Germline

Chr2:178785743

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Cardiovascular phenotype
Autosomal recessive titinopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005833

rs_755365744

6 SubmittersRCV000706742 RCV000765594 RCV003141709 RCV002422611 RCV006265236 RCV006699321

NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)

SNV
Germline

Chr2:178577794

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991062

rs_764263517

4 SubmittersRCV000714079 RCV001134115 RCV001134116 RCV001135614 RCV001135613 RCV001135615 RCV002332524 RCV005405280

NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)

SNV
Germline

Chr2:178575256

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660551

rs_1559446852

1 SubmittersRCV000714863

NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)

SNV
Germline

Chr2:178545569

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986936

rs_749477738

5 SubmittersRCV000727703 RCV001089080 RCV002360849 RCV005405281

NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)

SNV
Germline

Chr2:178565096

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1989258

rs_550999055

7 SubmittersRCV000727712 RCV000769928 RCV001293050 RCV002343594 RCV004559640 RCV006265249

NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)

SNV
Germline

Chr2:178560386

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988593

rs_771116739

4 SubmittersRCV000727751 RCV001429953 RCV002352237

NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)

SNV
Germline

Chr2:178592029

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992589

rs_564432498

6 SubmittersRCV000727762 RCV000769991 RCV001293201 RCV002325442 RCV006265250

NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)

SNV
Germline

Chr2:178733055

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002088

rs_375577529

6 SubmittersRCV000727771 RCV004702374

NM_001267550.2(TTN):c.1364C>T (p.Thr455Met)

SNV
Germline

Chr2:178794433

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2006076

rs_368121196

6 SubmittersRCV000727797 RCV002386290 RCV003117523 RCV003150337

NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)

SNV
Germline

Chr2:178620300

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995285

rs_370808856

4 SubmittersRCV000727809 RCV001482250 RCV002406658

NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)

SNV
Germline

Chr2:178586663

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991931

rs_375659466

7 SubmittersRCV000727834 RCV000769977 RCV001002278 RCV001134971 RCV001134973 RCV001133468 RCV001134972 RCV001134974

NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)

SNV
Germline

Chr2:178527742

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1984946

rs_549598246

5 SubmittersRCV000727841 RCV006459865

NM_001267550.2(TTN):c.4650G>A (p.Val1550=)

SNV
Germline

Chr2:178777313

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60978278

rs_915170239

3 SubmittersRCV000727845 RCV002334407

NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)

SNV
Germline

Chr2:178590939

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA430266263

rs_1217782958

5 SubmittersRCV000727852 RCV001393936 RCV002325444 RCV004540032

NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)

SNV
Germline

Chr2:178531192

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985263

rs_534484592

6 SubmittersRCV000727952 RCV001004967 RCV002499341 RCV005223148 RCV005772027

NM_001267550.2(TTN):c.18028+1G>A

SNV
Germline

Chr2:178730504

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349567589

rs_1560786548

2 SubmittersRCV000727956 RCV000804731

NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)

SNV
Germline

Chr2:178720928

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA430287402

rs_1198504900

4 SubmittersRCV000728114 RCV001409022 RCV004997255

NM_001267550.2(TTN):c.46590A>G (p.Glu15530=)

SNV
Germline

Chr2:178619727

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430111677

rs_1559861805

2 SubmittersRCV000728222 RCV001467692

NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val)

SNV
Germline

Chr2:178605251

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA60980537

rs_371424482

3 SubmittersRCV000728328 RCV002493308 RCV005405282

NM_001267550.2(TTN):c.66726C>T (p.Asp22242=)

SNV
Germline

Chr2:178581542

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60958640

rs_879057314

2 SubmittersRCV000728840 RCV002060972

NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)

SNV
Germline

Chr2:178722118

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000810

rs_373496180

3 SubmittersRCV000729156 RCV001088934 RCV005405283

NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)

SNV
Germline

Chr2:178572800

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349642605

rs_775374887

1 SubmittersRCV000729292

NM_001267550.2(TTN):c.30357G>A (p.Glu10119=)

SNV
Germline

Chr2:178702530

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430279239

rs_1560501974

2 SubmittersRCV000729328 RCV002535116

NM_001267550.2(TTN):c.43068G>A (p.Gln14356=)

SNV
Germline

Chr2:178633205

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995958

rs_758915068

2 SubmittersRCV000729330 RCV003768187

NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)

SNV
Germline

Chr2:178576088

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1990846

rs_771534964

3 SubmittersRCV000729332 RCV003165962 RCV002536429

NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)

SNV
Germline

Chr2:178572367

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990318

rs_371821218

7 SubmittersRCV000729335 RCV001002599

NM_001267550.2(TTN):c.24108G>A (p.Ser8036=)

SNV
Germline

Chr2:178719282

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000500

rs_752974196

2 SubmittersRCV000729418 RCV001487044

NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)

SNV
Germline

Chr2:178537367

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986134

rs_375178211

5 SubmittersRCV000729427 RCV001087404 RCV002386293 RCV006268981

NM_001267550.2(TTN):c.2052A>G (p.Glu684=)

SNV
Germline

Chr2:178789384

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430112552

rs_1379431768

2 SubmittersRCV000729496 RCV006556587

NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)

SNV
Germline

Chr2:178527156

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1984868

rs_759154562

3 SubmittersRCV000729538 RCV002060977 RCV002422626

NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)

SNV
Germline

Chr2:178589628

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992271

rs_774995592

7 SubmittersRCV000729637 RCV001438477 RCV006725970

NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)

SNV
Germline

Chr2:178729487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA2001564

rs_772600691

5 SubmittersRCV000729688 RCV001079486 RCV001129859 RCV001134871 RCV001134873 RCV001134870 RCV001134872 RCV001701436

NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)

SNV
Germline

Chr2:178563400

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349571891

rs_368850871

2 SubmittersRCV000729689 RCV003768190

NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)

SNV
Germline

Chr2:178560857

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988671

rs_376484117

4 SubmittersRCV000729695 RCV001085380 RCV002352246 RCV004535825

NM_001267550.2(TTN):c.26982T>A (p.Gly8994=)

SNV
Germline

Chr2:178713152

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430284875

rs_1560588098

2 SubmittersRCV000729700 RCV006556588

NM_001267550.2(TTN):c.210G>T (p.Val70=)

SNV
Germline

Chr2:178802223

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2006390

rs_746033038

3 SubmittersRCV000729860 RCV001475221

NM_001267550.2(TTN):c.29566C>T (p.Leu9856=)

SNV
Germline

Chr2:178705212

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA61000127

rs_371542947

2 SubmittersRCV000729932 RCV001089304

NM_001267550.2(TTN):c.9468T>A (p.Val3156=)

SNV
Germline

Chr2:178767762

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA61001247

rs_879192388

4 SubmittersRCV000729984 RCV002369993 RCV002067104

NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter)

SNV
Germline

Chr2:178537806

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349428587

rs_1559071558

2 SubmittersRCV000730003

NM_001267550.2(TTN):c.39375A>G (p.Pro13125=)

SNV
Germline

Chr2:178651888

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1996752

rs_566794300

3 SubmittersRCV000730114 RCV001480507

NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)

SNV
Germline

Chr2:178636549

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430278321

rs_1559992784

2 SubmittersRCV000730115 RCV002388363

NM_001267550.2(TTN):c.40634-5T>C

SNV
Germline

Chr2:178640635

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913189562

rs_904821775

3 SubmittersRCV000730159 RCV002386298 RCV003768194

NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)

SNV
Germline

Chr2:178633886

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996042

rs_747480084

4 SubmittersRCV000730213 RCV002397508 RCV006556590

NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly)

SNV
Germline

Chr2:178548675

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987378

rs_770525487

2 SubmittersRCV000730216

NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)

SNV
Germline

Chr2:178599783

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430268925

rs_1559671858

3 SubmittersRCV000730258 RCV001490555

NM_001267550.2(TTN):c.33975G>A (p.Val11325=)

SNV
Germline

Chr2:178678144

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430278835

rs_1560303919

2 SubmittersRCV000730354 RCV002060993

NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)

SNV
Germline

Chr2:178608859

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430271486

rs_1004455055

3 SubmittersRCV000730465 RCV002067108 RCV004678807

NM_133379.5(TTN):c.14206C>T (p.Leu4736Phe)

SNV
Germline

Chr2:178748194

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2003285

rs_770663802

3 SubmittersRCV000730467 RCV004535835 RCV005405284

NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)

SNV
Germline

Chr2:178552720

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430245542

rs_1171957663

3 SubmittersRCV000730565 RCV002352247 RCV002535157

NM_001267550.2(TTN):c.5651G>A (p.Ser1884Asn)

SNV
Germline

Chr2:178776213

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005151

rs_749151809

2 SubmittersRCV000730576 RCV003486925

NM_001267550.2(TTN):c.24390T>C (p.Asp8130=)

SNV
Germline

Chr2:178718810

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430286687

rs_1158674912

2 SubmittersRCV000730577 RCV003117528

NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)

SNV
Germline

Chr2:178562606

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988908

rs_539533062

3 SubmittersRCV000730585 RCV001502224 RCV002343596

NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)

SNV
Germline

Chr2:178779379

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2005462

rs_773274762

4 SubmittersRCV000730813 RCV001442080 RCV002458341 RCV006692637

NM_133379.5(TTN):c.12204C>T (p.Gly4068=)

SNV
Germline

Chr2:178750196

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2003593

rs_144330952

3 SubmittersRCV000730815 RCV004540053 RCV005405285

NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)

SNV
Germline

Chr2:178581997

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991537

rs_756981729

4 SubmittersRCV000730863 RCV001494292 RCV002369996

NM_001267550.2(TTN):c.39626-10A>G

SNV
Germline

Chr2:178650844

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913190115

rs_1560092083

2 SubmittersRCV000730869 RCV006556592

NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)

SNV
Germline

Chr2:178588824

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430265009

rs_1245531460

3 SubmittersRCV000730925 RCV002067110 RCV002458342

NM_001267550.2(TTN):c.33419-9T>C

SNV
Germline

Chr2:178680064

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA60983229

rs_1030703466

3 SubmittersRCV000730927 RCV002499360 RCV005405286

NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)

SNV
Germline

Chr2:178694856

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA60991787

rs_901197333

3 SubmittersRCV000730952

NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)

SNV
Germline

Chr2:178594486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992945

rs_770525693

3 SubmittersRCV000731023 RCV001078946 RCV002319573

NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)

SNV
Germline

Chr2:178528350

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349401379

rs_1558965303

3 SubmittersRCV000731142 RCV005223152

NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)

SNV
Germline

Chr2:178536118

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986013

rs_772935423

3 SubmittersRCV000731152 RCV001464836 RCV002386302

NM_001267550.2(TTN):c.34575C>T (p.Ile11525=)

SNV
Germline

Chr2:178675076

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1998036

rs_537187311

3 SubmittersRCV000731217 RCV002067114 RCV005405288

NM_001267550.2(TTN):c.81393A>G (p.Lys27131=)

SNV
Germline

Chr2:178564739

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60988258

rs_374501251

2 SubmittersRCV000731370 RCV001487147

NM_001267550.2(TTN):c.64673-5T>C

SNV
Germline

Chr2:178584973

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60962359

rs_530496528

8 SubmittersRCV000731408 RCV001399219 RCV001727800 RCV003353011

NM_001267550.2(TTN):c.19428T>C (p.Asp6476=)

SNV
Germline

Chr2:178728396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430292223

rs_1228771607

2 SubmittersRCV000731594 RCV001078684

NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)

SNV
Germline

Chr2:178617229

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994975

rs_757006832

5 SubmittersRCV000731606 RCV001452050 RCV004535847

NM_001267550.2(TTN):c.50835T>C (p.Asn16945=)

SNV
Germline

Chr2:178611394

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994305

rs_750172128

3 SubmittersRCV000731712 RCV004993984 RCV005225105

NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)

SNV
Germline

Chr2:178607879

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993906

rs_748175453

4 SubmittersRCV000731713 RCV001088270 RCV001133058 RCV001136500 RCV001133057 RCV001133059 RCV001136501

NM_001267550.2(TTN):c.47715T>C (p.Asn15905=)

SNV
Germline

Chr2:178617370

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430107853

rs_1559839662

2 SubmittersRCV000731723 RCV001414548

NM_001267550.2(TTN):c.55303-4A>G

SNV
Germline

Chr2:178601791

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA538435665

rs_1191310144

2 SubmittersRCV000731785 RCV001082482

NM_001267550.2(TTN):c.90198T>G (p.Val30066=)

SNV
Germline

Chr2:178552702

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987819

rs_761842174

4 SubmittersRCV000731801 RCV001078504 RCV002352249 RCV005405289

NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)

SNV
Germline

Chr2:178583174

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991665

rs_72646866

7 SubmittersRCV000731808 RCV001029810 RCV002360856

NM_001267550.2(TTN):c.56670A>G (p.Lys18890=)

SNV
Germline

Chr2:178599040

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430268627

rs_1559663225

2 SubmittersRCV000731917 RCV001422986

NM_001267550.2(TTN):c.94494A>G (p.Ser31498=)

SNV
Germline

Chr2:178547031

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430242572

rs_1559155162

2 SubmittersRCV000731988 RCV001412847

NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)

SNV
Germline

Chr2:178534217

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985758

rs_764179161

7 SubmittersRCV000732211 RCV001307848 RCV002222619 RCV004535854

NM_001267550.2(TTN):c.61953G>A (p.Gly20651=)

SNV
Germline

Chr2:178589772

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60967562

rs_1007434751

2 SubmittersRCV000732283 RCV001406572

NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)

SNV
Germline

Chr2:178633486

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996000

rs_370216450

3 SubmittersRCV000732419 RCV002397511 RCV002067129

NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)

SNV
Germline

Chr2:178780059

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005507

rs_764873258

3 SubmittersRCV000732503 RCV001086158 RCV003344028

NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)

SNV
Germline

Chr2:178573416

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990465

rs_750298083

4 SubmittersRCV000732912 RCV002469280

NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)

SNV
Germline

Chr2:178597927

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430097218

rs_1185555417

5 SubmittersRCV000733259 RCV001079885 RCV001553766 RCV002440577

NM_001267550.2(TTN):c.6008G>A (p.Arg2003His)

SNV
Germline

Chr2:178775856

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2005113

rs_753167856

3 SubmittersRCV000733287 RCV002499371 RCV005405290

NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)

SNV
Germline

Chr2:178581946

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430262549

rs_1322620894

3 SubmittersRCV000733407 RCV002067152 RCV004027062

NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)

SNV
Germline

Chr2:178535083

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985868

rs_776839796

3 SubmittersRCV000733411 RCV002067153 RCV002386307

NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)

SNV
Germline

Chr2:178740669

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430296256

rs_547338168

3 SubmittersRCV000733482 RCV001436792 RCV002458351

NM_001267550.2(TTN):c.35199A>G (p.Val11733=)

SNV
Germline

Chr2:178671999

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA430123741

rs_1560255134

2 SubmittersRCV000733495

NM_001267550.2(TTN):c.13365A>G (p.Val4455=)

SNV
Germline

Chr2:178739868

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60983802

rs_956041710

3 SubmittersRCV000733497 RCV002067154 RCV004993985

NM_001267550.2(TTN):c.12813C>T (p.His4271=)

SNV
Germline

Chr2:178740420

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002667

rs_373302409

4 SubmittersRCV000733499 RCV001427357 RCV003303220 RCV004535868

NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)

SNV
Germline

Chr2:178543250

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241262

rs_1223885458

3 SubmittersRCV000733506 RCV001437276 RCV005772028

NM_001267550.2(TTN):c.32470+4T>C

SNV
Germline

Chr2:178685249

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA538095246

rs_1390842582

2 SubmittersRCV000733551

NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)

SNV
Germline

Chr2:178621151

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430276141

rs_1455525236

5 SubmittersRCV000733601 RCV001402269 RCV001700301 RCV002406669

NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)

SNV
Germline

Chr2:178575149

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990693

rs_568193318

5 SubmittersRCV000733704 RCV001088370 RCV003330933 RCV003486926 RCV004678810

NM_001267550.2(TTN):c.97539T>C (p.Arg32513=)

SNV
Germline

Chr2:178541538

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986528

rs_754524673

2 SubmittersRCV000733726 RCV001504590

NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)

SNV
Germline

Chr2:178530616

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985181

rs_764231632

3 SubmittersRCV000733733 RCV001441256 RCV002406670

NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)

SNV
Germline

Chr2:178618329

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995119

rs_185689179

3 SubmittersRCV000733788 RCV001816805

NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)

SNV
Germline

Chr2:178784339

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005795

rs_751157908

5 SubmittersRCV000733789 RCV001779071 RCV002442559 RCV004735788

NM_001267550.2(TTN):c.52050A>G (p.Lys17350=)

SNV
Germline

Chr2:178609260

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430271460

rs_1559756831

3 SubmittersRCV000733791 RCV003768235 RCV006717363

NM_001267550.2(TTN):c.89250C>T (p.Ser29750=)

SNV
Germline

Chr2:178553755

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430245953

rs_1559221602

2 SubmittersRCV000733820 RCV001439304

NM_001267550.2(TTN):c.1446C>A (p.Ala482=)

SNV
Germline

Chr2:178793494

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA430114733

rs_183258737

3 SubmittersRCV000733825 RCV003768236 RCV006459877

NM_001267550.2(TTN):c.1452T>C (p.Asp484=)

SNV
Germline

Chr2:178793488

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006039

rs_746610206

3 SubmittersRCV000733841 RCV002535353 RCV004678811

NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)

SNV
Germline

Chr2:178704541

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999285

rs_781508217

3 SubmittersRCV000734069 RCV002507307 RCV002536509

NM_001267550.2(TTN):c.72171A>C (p.Pro24057=)

SNV
Germline

Chr2:178573961

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430256849

rs_397517692

2 SubmittersRCV000734119 RCV001088923

NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)

SNV
Germline

Chr2:178552185

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA60977515

rs_879126335

4 SubmittersRCV000734234 RCV002499373 RCV005405291

NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)

SNV
Germline

Chr2:178641298

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349664414

rs_1560026402

2 SubmittersRCV000734245 RCV001855805

NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe)

SNV
Germline

Chr2:178561975

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349562004

rs_1194981313

2 SubmittersRCV000734317

NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)

SNV
Germline

Chr2:178671130

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1997871

rs_778338717

5 SubmittersRCV000734325 RCV001496625 RCV003226379

NM_001267550.2(TTN):c.29868T>C (p.His9956=)

SNV
Germline

Chr2:178704604

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999296

rs_373953903

2 SubmittersRCV000734344 RCV001416074

NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser)

SNV
Germline

Chr2:178715130

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000080

rs_370578197

4 SubmittersRCV000734539

NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met)

SNV
Germline

Chr2:178728736

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001448

rs_199564845

3 SubmittersRCV000734540

NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu)

SNV
Germline

Chr2:178784272

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005785

rs_772294126

3 SubmittersRCV005405292 RCV000734563 RCV002458352

NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)

SNV
Germline

Chr2:178599337

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993244

rs_201337786

4 SubmittersRCV000734565 RCV002440582

NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)

SNV
Germline

Chr2:178560689

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA1988644

rs_373326137

7 SubmittersRCV000734566 RCV001086240 RCV001701438 RCV002352252 RCV005897268

NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)

SNV
Germline

Chr2:178615771

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994849

rs_557105262

3 SubmittersRCV000734637 RCV002422633 RCV003768243

NM_001267550.2(TTN):c.9472-10C>A

SNV
Germline

Chr2:178766622

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913190016

rs_1561184482

2 SubmittersRCV000734640 RCV002536525

NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)

SNV
Germline

Chr2:178775458

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005054

rs_765377738

3 SubmittersRCV000734641 RCV001494837 RCV002360862

NM_001267550.2(TTN):c.26244C>T (p.Val8748=)

SNV
Germline

Chr2:178714530

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000046

rs_780219663

3 SubmittersRCV000734644 RCV003768244

NM_001267550.2(TTN):c.75642C>T (p.Ile25214=)

SNV
Germline

Chr2:178570490

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430254817

rs_1559390679

2 SubmittersRCV000734666 RCV002536526

NM_001267550.2(TTN):c.43716G>T (p.Gly14572=)

SNV
Germline

Chr2:178632178

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61003014

rs_200065187

3 SubmittersRCV000734668 RCV002397518

NM_001267550.2(TTN):c.4098C>T (p.Ala1366=)

SNV
Germline

Chr2:178778984

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005407

rs_760223250

3 SubmittersRCV000734712 RCV001498294 RCV006717365

NM_001267550.2(TTN):c.103524C>G (p.Val34508=)

SNV
Germline

Chr2:178533091

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430236659

rs_587780985

2 SubmittersRCV000734757 RCV001437533

NM_001267550.2(TTN):c.23085G>A (p.Ala7695=)

SNV
Germline

Chr2:178720934

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000720

rs_768936623

2 SubmittersRCV000734806 RCV001089081

NM_001267550.2(TTN):c.33861G>A (p.Lys11287=)

SNV
Germline

Chr2:178678463

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60982662

rs_774614159

2 SubmittersRCV000734878 RCV006556607

NM_133379.5(TTN):c.11169G>A (p.Thr3723=)

SNV
Germline

Chr2:178751231

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2003779

rs_145004106

3 SubmittersRCV000734892

NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)

SNV
Germline

Chr2:178766466

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60999981

rs_878971586

4 SubmittersRCV000734899 RCV001404534 RCV002370000

NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)

SNV
Germline

Chr2:178573502

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430256672

rs_1384344292

3 SubmittersRCV000734971 RCV002535406 RCV004027099

NM_001267550.2(TTN):c.58732+7A>G

SNV
Germline

Chr2:178593561

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913189423

rs_1559614110

2 SubmittersRCV000734993 RCV002535409

NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys)

SNV
Germline

Chr2:178595672

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1993008

rs_757820671

4 SubmittersRCV000735129 RCV005407933

NM_001267550.2(TTN):c.30223+1G>A

SNV
Germline

Chr2:178704146

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999225

rs_556408709

3 SubmittersRCV000735178 RCV001855834 RCV004735792

NM_001267550.2(TTN):c.106531+1G>A

SNV
Germline

Chr2:178529959

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985092

rs_760915007

7 SubmittersRCV000754724 RCV000986936 RCV001379575 RCV003489852 RCV003319208 RCV004678815

NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)

SNV
Germline

Chr2:178653292

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1997071

rs_767120669

7 SubmittersRCV000754743 RCV002284435 RCV004527768 RCV005502889

NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)

SNV
Unknown

Chr2:178722307

Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Single Submitter

CA349525674

rs_1560689563

1 SubmittersRCV000754739

NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg)

SNV
Germline

Chr2:178714059

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999964

rs_762113080

4 SubmittersRCV000756851

NM_001267550.2(TTN):c.29963-1G>C

SNV
Germline

Chr2:178704408

Pathogenic

Congenital titinopathy
Early-onset myopathy with fatal cardiomyopathy

No Assertion Criteria Provided

CA349576611

rs_1560513651

1 SubmittersRCV000758151

NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)

SNV
Germline

Chr2:178534662

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349418799

rs_534613934

3 SubmittersRCV000760599 RCV005286203 RCV002533840

NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter)

SNV
Germline

Chr2:178546699

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349470923

rs_1559151333

1 SubmittersRCV000760790

NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter)

SNV
Germline

Chr2:178551865

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349504361

rs_1559200525

1 SubmittersRCV000760582

NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)

SNV
Germline

Chr2:178563028

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349569463

rs_1559314812

4 SubmittersRCV000760332 RCV001377960 RCV004545884 RCV003166016

NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter)

SNV
Germline

Chr2:178563584

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349572964

rs_1559321340

3 SubmittersRCV000760894 RCV004764939

NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)

SNV
Germline

Chr2:178564482

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349579100

rs_1559330805

2 SubmittersRCV000760877 RCV001066127

NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)

SNV
Germline

Chr2:178567806

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349603262

rs_1559364892

2 SubmittersRCV000760684 RCV000824575

NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)

SNV
Germline

Chr2:178575418

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349661692

rs_1559449398

3 SubmittersRCV000760841 RCV001855932 RCV004764938

NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter)

SNV
Germline

Chr2:178579678

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349423577

rs_1559490694

2 SubmittersRCV000760517 RCV006556618

NM_001267550.2(TTN):c.67415G>A (p.Trp22472Ter)

SNV
Germline

Chr2:178579782

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349423812

rs_1559491398

1 SubmittersRCV000760739

NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter)

SNV
Germline

Chr2:178739267

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349605455

rs_747289468

2 SubmittersRCV000760630 RCV002533841

NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)

SNV
Germline

Chr2:178535508

Pathogenic/Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985929

rs_766265889

7 SubmittersRCV000769860 RCV000766232 RCV000821045 RCV002485976 RCV003994109 RCV005298605

NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)

SNV
Germline

Chr2:178529089

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985062

rs_753862749

4 SubmittersRCV000769844 RCV001489985 RCV003235388 RCV006732163

NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter)

SNV
Germline

Chr2:178535728

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349422583

rs_1559051231

1 SubmittersRCV000768835

NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)

SNV
Germline

Chr2:178539042

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986295

rs_186405108

5 SubmittersRCV000768845 RCV001592951 RCV002370028 RCV005405295

NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)

SNV
Germline

Chr2:178549394

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430243763

rs_1395558232

2 SubmittersRCV000768861 RCV001468628

NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys)

SNV
Germline

Chr2:178560409

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA1988597

rs_760762822

5 SubmittersRCV000769912 RCV000841666 RCV005405301 RCV005357993

NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met)

SNV
Germline

Chr2:178563393

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1989023

rs_748535477

5 SubmittersRCV000768901 RCV001000786 RCV003141747 RCV005029416

NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)

SNV
Germline

Chr2:178570990

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA60996378

rs_1034492140

5 SubmittersRCV000768929 RCV001412069 RCV003141748 RCV004686611 RCV005405296

NM_001267550.2(TTN):c.68996C>T (p.Thr22999Ile)

SNV
Germline

Chr2:178577339

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991007

rs_755306597

2 SubmittersRCV000769967 RCV000830407

NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)

SNV
Germline

Chr2:178588122

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992115

rs_760168563

4 SubmittersRCV000769985 RCV002067213 RCV002458377 RCV003437425

NM_001267550.2(TTN):c.62218G>A (p.Glu20740Lys)

SNV
Germline

Chr2:178589507

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA349465514

rs_1451572769

2 SubmittersRCV000768963 RCV005405297

NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)

SNV
Germline

Chr2:178608282

Likely pathogenic

Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349572617

rs_1559746821

3 SubmittersRCV002458378 RCV000770014 RCV005225122

NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)

SNV
Germline

Chr2:178612951

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1994517

rs_774495753

5 SubmittersRCV000770021 RCV002442575 RCV002500992 RCV006459886

NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)

SNV
Germline

Chr2:178631187

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995796

rs_374032491

3 SubmittersRCV000769016 RCV000864144 RCV001508112

NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala)

SNV
Germline

Chr2:178670224

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349513365

rs_751454643

3 SubmittersRCV000769033 RCV003141750 RCV005405298

NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala)

SNV
Germline

Chr2:178732670

Conflicting classifications of pathogenicity

Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA2002034

rs_377023302

4 SubmittersRCV000770100 RCV001135656 RCV001135652 RCV001135653 RCV001135654 RCV001135655 RCV003141756 RCV004559645

NM_001267550.2(TTN):c.12740A>G (p.Glu4247Gly)

SNV
Germline

Chr2:178740493

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60984099

rs_879038684

2 SubmittersRCV000770110 RCV006436896

NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)

SNV
Germline

Chr2:178773945

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004868

rs_777244038

3 SubmittersRCV000770123 RCV000831416

NM_001267550.2(TTN):c.4302T>C (p.Pro1434=)

SNV
Germline

Chr2:178777882

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430282240

rs_1561310756

2 SubmittersRCV000769132 RCV003768309

NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)

SNV
Germline

Chr2:178779110

Likely pathogenic

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349475356

rs_1561323791

2 SubmittersRCV000769137 RCV001869064

NM_001267550.2(TTN):c.66770-10A>C

SNV
Germline

Chr2:178580619

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991435

rs_769421715

2 SubmittersRCV000768951 RCV002067210

NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys)

SNV
Germline

Chr2:178614110

Likely pathogenic

Third degree atrioventricular block

Criteria Provided
Single Submitter

CA349605528

rs_763809932

1 SubmittersRCV000785756

NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)

SNV
Germline

Chr2:178534672

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349418837

rs_1575283255

4 SubmittersRCV000788631 RCV002535784 RCV004789186 RCV006663287

NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)

SNV
Germline

Chr2:178546761

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349471501

rs_868156117

3 SubmittersRCV000788575 RCV005225143 RCV005626212

NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)

SNV
Germline

Chr2:178552356

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349510090

rs_1575519034

1 SubmittersRCV000788953

NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)

SNV
Germline

Chr2:178560419

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349550982

rs_1575612435

1 SubmittersRCV000811065

NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)

SNV
Germline

Chr2:178573905

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349647954

rs_1575780854

2 SubmittersRCV000788475 RCV006556682

NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)

SNV
Germline

Chr2:178607170

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349564230

rs_1576359214

2 SubmittersRCV000788530 RCV006556683

NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)

SNV
Germline

Chr2:178614226

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60987368

rs_570046043

8 SubmittersRCV000788959 RCV001069013 RCV002424786 RCV004764940

NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)

SNV
Germline

Chr2:178636188

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349660337

rs_1576742510

1 SubmittersRCV000788735

NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)

SNV
Germline

Chr2:178766507

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2004287

rs_746115846

8 SubmittersRCV000788122 RCV001341958 RCV003228799 RCV003150348 RCV004027361 RCV005359524

NM_001267550.2(TTN):c.3963+1G>T

SNV
Germline

Chr2:178779228

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349475587

rs_1561325112

2 SubmittersRCV000788466 RCV002535776

NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)

SNV
Germline

Chr2:178527155

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349398781

rs_1575169924

4 SubmittersRCV000809754 RCV001798983 RCV003141818 RCV005405320

NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)

SNV
Germline

Chr2:178528367

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Left ventricular noncompaction cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349401413

rs_1477669354

4 SubmittersRCV000794012 RCV002061140 RCV002255166 RCV004796315

NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)

SNV
Germline

Chr2:178533162

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349414238

rs_1575259969

1 SubmittersRCV000810405

NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)

SNV
Germline

Chr2:178533699

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349415781

rs_1575269011

1 SubmittersRCV000806457

NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)

SNV
Germline

Chr2:178536357

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426091

rs_374920916

1 SubmittersRCV000810638

NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)

SNV
Germline

Chr2:178546268

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349466950

rs_794729538

1 SubmittersRCV000793807

NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)

SNV
Germline

Chr2:178548535

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349487952

rs_907669905

1 SubmittersRCV000794863

NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)

SNV
Germline

Chr2:178554522

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349524576

rs_766450773

4 SubmittersRCV000799871 RCV002352352 RCV003320751

NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)

SNV
Germline

Chr2:178557649

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349534715

rs_1575584918

2 SubmittersRCV000801960 RCV000825609

NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)

SNV
Germline

Chr2:178560163

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60984296

rs_72648224

3 SubmittersRCV000821629 RCV003227866 RCV004764943

NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)

SNV
Germline

Chr2:178561313

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA60985029

rs_72648222

2 SubmittersRCV000800421 RCV003486932

NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)

SNV
Germline

Chr2:178565585

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588316

rs_1575673206

1 SubmittersRCV000812768

NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)

SNV
Germline

Chr2:178566593

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349596257

rs_1575685597

1 SubmittersRCV000816354

NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)

SNV
Germline

Chr2:178567883

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349603428

rs_747203787

1 SubmittersRCV000794302

NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)

SNV
Germline

Chr2:178568884

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349611659

rs_1575714442

2 SubmittersRCV000808319 RCV004721625

NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)

SNV
Germline

Chr2:178572091

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636031

rs_1575756767

1 SubmittersRCV000804424

NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)

SNV
Germline

Chr2:178575253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349660525

rs_1575799625

2 SubmittersRCV000806370 RCV002067395

NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)

SNV
Germline

Chr2:178576686

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349667569

rs_1575821175

1 SubmittersRCV000798352

NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)

SNV
Germline

Chr2:178586583

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349441646

rs_1576014673

2 SubmittersRCV000809515 RCV000825608

NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)

SNV
Germline

Chr2:178586679

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349442600

rs_1576015923

1 SubmittersRCV000810026

NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)

SNV
Germline

Chr2:178589878

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349468328

rs_1576077909

1 SubmittersRCV000818732

NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)

SNV
Germline

Chr2:178590401

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349473747

rs_751412533

1 SubmittersRCV000811913

NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)

SNV
Germline

Chr2:178598927

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526910

rs_1576240126

1 SubmittersRCV000815455

NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)

SNV
Germline

Chr2:178604300

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349553237

rs_1576323463

1 SubmittersRCV000822947

NM_001267550.2(TTN):c.51633A>T (p.Gly17211=)

SNV
Germline

Chr2:178609790

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430271776

rs_879091553

2 SubmittersRCV000816645 RCV003166358

NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter)

SNV
Germline

Chr2:178618747

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349622238

rs_1576521473

2 SubmittersRCV000819832 RCV005436076

NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)

SNV
Germline

Chr2:178620236

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349627970

rs_1576543528

1 SubmittersRCV000811443

NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)

SNV
Germline/somatic

Chr2:178635683

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
TNN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA61006255

rs_747469275

7 SubmittersRCV000811776 RCV001375660 RCV004588281 RCV004764942 RCV005863286

NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter)

SNV
Germline

Chr2:178715631

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60969223

rs_887577241

2 SubmittersRCV000810624 RCV004702440

NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter)

SNV
Germline

Chr2:178718141

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349495572

rs_1577954678

1 SubmittersRCV000810920

NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)

SNV
Germline

Chr2:178738255

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349602643

rs_1574050861

1 SubmittersRCV000814448

NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter)

SNV
Germline

Chr2:178771372

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678605

rs_1574584676

1 SubmittersRCV000813063

NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)

SNV
Germline

Chr2:178775486

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005059

rs_754781119

4 SubmittersRCV000791623 RCV003141771 RCV006342546

NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter)

SNV
Germline

Chr2:178775883

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349445132

rs_758483877

2 SubmittersRCV000795945 RCV003238811

NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter)

SNV
Germline

Chr2:178776094

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349447663

rs_1327562179

1 SubmittersRCV000793444

NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)

SNV
Germline

Chr2:178795133

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349518971

rs_1574929972

4 SubmittersRCV000795870 RCV004561843 RCV005409743

NM_001267550.2(TTN):c.88895-1G>A

SNV
Germline

Chr2:178554217

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349522393

rs_1575540533

2 SubmittersRCV000798257 RCV004796317

NM_001267550.2(TTN):c.34612+2T>C

SNV
Germline

Chr2:178675037

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523971

rs_1577253441

1 SubmittersRCV000814981

NM_001267550.2(TTN):c.32311+1G>T

SNV
Germline

Chr2:178688110

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349551135

rs_1577433734

1 SubmittersRCV000800858

NM_001267550.2(TTN):c.4480+1G>T

SNV
Germline

Chr2:178777703

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349467916

rs_766581255

2 SubmittersRCV000796749 RCV005762098

NM_001267550.2(TTN):c.89197+2T>G

SNV
Germline

Chr2:178553912

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349520232

rs_1575536935

3 SubmittersRCV000796455 RCV006257321 RCV006717414

NM_001267550.2(TTN):c.51436+1G>T

SNV
Germline

Chr2:178610089

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349585825

rs_761807131

1 SubmittersRCV000811952

NM_001267550.2(TTN):c.66464-2A>G

SNV
Germline

Chr2:178581806

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349429077

rs_1575921187

2 SubmittersRCV000806664 RCV002370148

NM_001267550.2(TTN):c.26482+1G>A

SNV
Germline

Chr2:178714291

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349469035

rs_1440418037

1 SubmittersRCV000800833

NM_001267550.2(TTN):c.55121-1G>A

SNV
Germline

Chr2:178602151

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349544535

rs_1576297857

1 SubmittersRCV000796805

NM_001267550.2(TTN):c.32554+1G>T

SNV
Germline

Chr2:178684905

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Single Submitter

CA60985314

rs_376018437

3 SubmittersRCV000815013 RCV001796789

NM_001267550.2(TTN):c.56648-1G>A

SNV
Germline

Chr2:178599063

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993202

rs_769912484

7 SubmittersRCV000824892 RCV001248302 RCV002279552 RCV004764944 RCV005502929

NM_001267550.2(TTN):c.56347+1G>A

SNV
Germline

Chr2:178599553

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349532918

rs_1576251664

4 SubmittersRCV000824893 RCV001377760 RCV004545885 RCV004764945

NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)

SNV
Germline

Chr2:178531668

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60954275

rs_991187915

2 SubmittersRCV000825639 RCV003768554

NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)

SNV
Germline

Chr2:178563607

Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349573091

rs_1575649368

5 SubmittersRCV000825638 RCV002345917 RCV002495191 RCV002538222 RCV005240626

NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)

SNV
Germline

Chr2:178565182

Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349584896

rs_1060500562

2 SubmittersRCV000825607 RCV002345916

NM_001267550.2(TTN):c.49533-13G>A

SNV
Germline

Chr2:178613289

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60986863

rs_13395942

2 SubmittersRCV000826066 RCV003768564

NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)

SNV
Germline

Chr2:178531191

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1985262

rs_765274398

5 SubmittersRCV000828908 RCV001170283 RCV003489920

NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln)

SNV
Germline

Chr2:178532099

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985413

rs_371628882

3 SubmittersRCV000827419 RCV002399838

NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)

SNV
Germline

Chr2:178532287

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430235973

rs_1575245592

4 SubmittersRCV000840702 RCV001133711 RCV001133710 RCV001133712 RCV001130746 RCV001130747 RCV002536124 RCV005772039

NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val)

SNV
Germline

Chr2:178533348

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985634

rs_777746298

2 SubmittersRCV000840232 RCV002538290

NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn)

SNV
Germline

Chr2:178534322

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349417944

rs_1480810435

2 SubmittersRCV000842559 RCV001858442

NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)

SNV
Germline

Chr2:178534887

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA60959699

rs_943777958

7 SubmittersRCV000835252 RCV001174731 RCV004569795

NM_001267550.2(TTN):c.101684T>C (p.Ile33895Thr)

SNV
Germline

Chr2:178534931

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349419882

rs_1575286728

2 SubmittersRCV000827617 RCV006556730

NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)

SNV
Germline

Chr2:178539185

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986313

rs_561932256

4 SubmittersRCV000828077 RCV002363184

NM_001267550.2(TTN):c.97054C>T (p.Arg32352Cys)

SNV
Germline

Chr2:178542800

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986640

rs_753874904

2 SubmittersRCV000839545

NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met)

SNV
Germline

Chr2:178543584

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986757

rs_368998895

2 SubmittersRCV000842571 RCV002372382

NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val)

SNV
Germline

Chr2:178545841

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986965

rs_370916420

4 SubmittersRCV000841503 RCV003317388

NM_001267550.2(TTN):c.93919G>A (p.Gly31307Arg)

SNV
Germline

Chr2:178547707

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987227

rs_535927586

2 SubmittersRCV000839492

NM_001267550.2(TTN):c.93031G>A (p.Val31011Met)

SNV
Germline

Chr2:178548595

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987365

rs_369206712

3 SubmittersRCV000827141 RCV002363180 RCV006686873

NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile)

SNV
Germline

Chr2:178551105

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987633

rs_377531244

4 SubmittersRCV000838285 RCV002363188 RCV006686878

NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg)

SNV
Germline

Chr2:178553261

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987887

rs_781165041

3 SubmittersRCV000841573 RCV004528319

NM_001267550.2(TTN):c.88523G>A (p.Ser29508Asn)

SNV
Germline

Chr2:178554936

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349527008

rs_1314571330

3 SubmittersRCV000828098 RCV004782574

NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)

SNV
Germline

Chr2:178561186

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988717

rs_183238138

5 SubmittersRCV000828216 RCV002469303 RCV002352481

NM_001267550.2(TTN):c.84400C>T (p.Arg28134Cys)

SNV
Germline

Chr2:178561732

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988782

rs_771002170

2 SubmittersRCV000827494 RCV004782572

NM_001267550.2(TTN):c.83660C>A (p.Pro27887Gln)

SNV
Germline

Chr2:178562472

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988891

rs_751121559

2 SubmittersRCV000828323

NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr)

SNV
Germline

Chr2:178562934

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988958

rs_759928014

2 SubmittersRCV002345922 RCV000837896

NM_001267550.2(TTN):c.80694A>C (p.Lys26898Asn)

SNV
Germline

Chr2:178565438

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60988800

rs_372650410

2 SubmittersRCV000840206 RCV002345923

NM_001267550.2(TTN):c.80083G>T (p.Val26695Leu)

SNV
Germline

Chr2:178566049

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989398

rs_772729384

2 SubmittersRCV000836384

NM_001267550.2(TTN):c.79976G>C (p.Gly26659Ala)

SNV
Germline

Chr2:178566156

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA60989564

rs_574711878

2 SubmittersRCV000827368

NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile)

SNV
Germline

Chr2:178566352

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989436

rs_759737599

2 SubmittersRCV000831507

NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln)

SNV
Germline

Chr2:178566447

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1989444

rs_538960023

4 SubmittersRCV000828352 RCV002336734 RCV004735824 RCV006459966

NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln)

SNV
Germline

Chr2:178568617

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349610176

rs_1371831965

2 SubmittersRCV000827441

NM_001267550.2(TTN):c.77471G>A (p.Arg25824His)

SNV
Germline

Chr2:178568661

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989767

rs_376051922

3 SubmittersRCV000828873 RCV002336736

NM_001267550.2(TTN):c.71305A>G (p.Thr23769Ala)

SNV
Germline

Chr2:178574827

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990649

rs_776889753

3 SubmittersRCV000829272 RCV005056617

NM_001267550.2(TTN):c.70259C>T (p.Pro23420Leu)

SNV
Germline

Chr2:178575873

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990813

rs_776633672

2 SubmittersRCV000839273

NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys)

SNV
Germline

Chr2:178576736

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349667806

rs_1334543067

3 SubmittersRCV000828097 RCV004782573

NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala)

SNV
Germline

Chr2:178577195

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990977

rs_368697152

2 SubmittersRCV000828870 RCV002332734

NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)

SNV
Germline

Chr2:178579196

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991226

rs_757888367

4 SubmittersRCV000828350 RCV001170575

NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)

SNV
Germline

Chr2:178581668

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991471

rs_371324060

5 SubmittersRCV000840931 RCV001129184 RCV001129185 RCV001129186 RCV001129187 RCV001129188 RCV001502378 RCV002234382 RCV002372379

NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile)

SNV
Germline

Chr2:178583802

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991716

rs_373848128

4 SubmittersRCV000826484 RCV002352478 RCV006650457

NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala)

SNV
Germline

Chr2:178586618

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349442081

rs_1576014979

2 SubmittersRCV000840720 RCV001532931

NM_001267550.2(TTN):c.61963G>A (p.Glu20655Lys)

SNV
Germline

Chr2:178589762

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992288

rs_776314797

3 SubmittersRCV000827150 RCV003150357

NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly)

SNV
Germline

Chr2:178590242

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992359

rs_370128504

2 SubmittersRCV000828416

NM_001267550.2(TTN):c.60782C>T (p.Thr20261Ile)

SNV
Germline

Chr2:178590943

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992448

rs_555901678

2 SubmittersRCV000842742

NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile)

SNV
Germline

Chr2:178591854

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60970192

rs_1021499065

2 SubmittersRCV000831156 RCV002319944

NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr)

SNV
Germline

Chr2:178592092

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992602

rs_755204306

3 SubmittersRCV000842180 RCV005405337 RCV002442783

NM_001267550.2(TTN):c.59442A>G (p.Pro19814=)

SNV
Germline

Chr2:178592563

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA430267167

rs_1304742332

2 SubmittersRCV000842401

NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys)

SNV
Germline

Chr2:178594538

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1992955

rs_369082749

4 SubmittersRCV000836034 RCV002319594 RCV005392463

NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser)

SNV
Germline

Chr2:178601166

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1993391

rs_528329600

5 SubmittersRCV000841449 RCV001130551 RCV001130550 RCV001130547 RCV001130548 RCV001130549 RCV004538160 RCV006686883

NM_001267550.2(TTN):c.55709G>A (p.Arg18570Lys)

SNV
Germline

Chr2:178601288

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349538385

rs_1427580402

3 SubmittersRCV000827510 RCV005405330

NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)

SNV
Germline

Chr2:178607538

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993849

rs_757018821

3 SubmittersRCV000836076

NM_001267550.2(TTN):c.52449C>T (p.Thr17483=)

SNV
Germline

Chr2:178608434

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993986

rs_374894182

7 SubmittersRCV000827299 RCV001464897 RCV002427082 RCV005408007

NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile)

SNV
Germline

Chr2:178614184

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994649

rs_570644860

2 SubmittersRCV000842093 RCV002427088

NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)

SNV
Germline

Chr2:178617870

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60990414

rs_752514306

5 SubmittersRCV000842590 RCV002415965 RCV005213414

NM_001267550.2(TTN):c.45673G>A (p.Val15225Ile)

SNV
Germline

Chr2:178620937

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995383

rs_757519339

3 SubmittersRCV000842558 RCV005432459

NM_001267550.2(TTN):c.44323G>C (p.Val14775Leu)

SNV
Germline

Chr2:178629402

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995676

rs_540115992

2 SubmittersRCV000827165

NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe)

SNV
Germline

Chr2:178670233

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997842

rs_200587998

3 SubmittersRCV000835257

NM_001267550.2(TTN):c.34412A>T (p.Lys11471Ile)

SNV
Germline

Chr2:178675962

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA60980230

rs_912864418

2 SubmittersRCV000841665

NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys)

SNV
Germline

Chr2:178681133

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998396

rs_377710763

2 SubmittersRCV000828056 RCV001844240

NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu)

SNV
Germline

Chr2:178681417

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349539537

rs_1577342347

2 SubmittersRCV000827652

NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser)

SNV
Germline

Chr2:178681706

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998447

rs_746514747

3 SubmittersRCV000841498

NM_001267550.2(TTN):c.31070A>G (p.His10357Arg)

SNV
Germline

Chr2:178696002

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349565591

rs_1343660563

2 SubmittersRCV000827132

NM_001267550.2(TTN):c.29590G>C (p.Glu9864Gln)

SNV
Germline

Chr2:178705188

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349580172

rs_776836480

2 SubmittersRCV000840909 RCV001798989

NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val)

SNV
Germline

Chr2:178714394

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000014

rs_372229450

2 SubmittersRCV000839812 RCV003235418

NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr)

SNV
Germline

Chr2:178720121

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000612

rs_753072306

2 SubmittersRCV000839905

NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser)

SNV
Germline

Chr2:178724339

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA60974414

rs_1024577519

2 SubmittersRCV000827651

NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)

SNV
Germline

Chr2:178724376

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001098

rs_764035021

2 SubmittersRCV000826968

NM_001267550.2(TTN):c.19180G>C (p.Val6394Leu)

SNV
Germline

Chr2:178728746

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001449

rs_370515485

3 SubmittersRCV000828035

NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)

SNV
Germline

Chr2:178730133

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001652

rs_754848806

3 SubmittersRCV000842374 RCV001798991

NM_001267550.2(TTN):c.16891G>A (p.Val5631Ile)

SNV
Germline

Chr2:178732078

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001962

rs_778807865

2 SubmittersRCV000842289 RCV006453418

NM_001267550.2(TTN):c.15388G>A (p.Val5130Met)

SNV
Germline

Chr2:178734436

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002234

rs_765530283

3 SubmittersRCV000842588 RCV003994133

NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp)

SNV
Germline

Chr2:178759125

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004159

rs_758680640

2 SubmittersRCV000837895 RCV002381893

NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser)

SNV
Germline

Chr2:178764713

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60999090

rs_912372716

3 SubmittersRCV000827241 RCV001779084

NM_001267550.2(TTN):c.9226A>G (p.Met3076Val)

SNV
Germline

Chr2:178768093

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004399

rs_766144077

2 SubmittersRCV000826938

NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe)

SNV
Germline

Chr2:178771451

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA61005073

rs_944728845

2 SubmittersRCV000842400

NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala)

SNV
Germline

Chr2:178773564

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61006468

rs_943280773

2 SubmittersRCV000841347 RCV002381897

NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro)

SNV
Germline

Chr2:178777504

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349466793

rs_1574674545

2 SubmittersRCV000829159 RCV002332736

NM_001267550.2(TTN):c.3549C>T (p.Ser1183=)

SNV
Germline

Chr2:178780180

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005521

rs_764819788

4 SubmittersRCV000839201 RCV001438500 RCV002332745

NM_001267550.2(TTN):c.2426C>G (p.Pro809Arg)

SNV
Germline

Chr2:178785687

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005829

rs_556497793

2 SubmittersRCV000831005

NM_001267550.2(TTN):c.864C>T (p.His288=)

SNV
Germline

Chr2:178799537

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006213

rs_772543040

5 SubmittersRCV000827440 RCV001128783 RCV001128784 RCV001128782 RCV001408199 RCV001131433 RCV001131434 RCV003307570

NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter)

SNV
Germline

Chr2:178532758

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349413317

rs_1575253896

1 SubmittersRCV000845551

NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter)

SNV
Germline

Chr2:178564408

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349578437

rs_868349549

1 SubmittersRCV000845569

NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)

SNV
Germline

Chr2:178740965

Likely pathogenic

Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349615850

rs_1574087037

3 SubmittersRCV000845353 RCV003307577 RCV006556749

NM_001267550.2(TTN):c.70858A>T (p.Arg23620Ter)

SNV
Unknown

Chr2:178575274

Likely pathogenic

Interstitial cardiac fibrosis

Criteria Provided
Single Submitter

CA349660669

rs_1575800019

1 SubmittersRCV000850020

NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)

SNV
Germline

Chr2:178575049

Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349659461

rs_1575796530

2 SubmittersRCV000850280 RCV003169080

NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter)

SNV
Unknown

Chr2:178776481

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349452655

rs_1574659116

1 SubmittersRCV000850281

NM_001267550.2(TTN):c.104017A>G (p.Met34673Val)

SNV
Germline

Chr2:178532598

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985500

rs_758352523

3 SubmittersRCV000852773 RCV005633760 RCV006556758

NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter)

SNV
Germline

Chr2:178533241

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349414422

rs_1060500505

1 SubmittersRCV000852485

NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter)

SNV
Germline

Chr2:178551866

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349504377

rs_1575512482

1 SubmittersRCV000852491

NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu)

SNV
Germline

Chr2:178559787

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988519

rs_561319491

4 SubmittersRCV000852496 RCV002487882 RCV004720019 RCV005405344

NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile)

SNV
Germline

Chr2:178560486

Conflicting classifications of pathogenicity

Ventricular fibrillation
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988608

rs_774609232

4 SubmittersRCV000852497 RCV001702850 RCV005405345

NM_001267550.2(TTN):c.67636+2T>C

SNV
Germline

Chr2:178579559

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349423314

rs_1575872984

2 SubmittersRCV000852820 RCV001858514

NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter)

SNV
Germline

Chr2:178587173

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349446338

rs_1161735211

1 SubmittersRCV000852511

NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile)

SNV
Germline

Chr2:178592549

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992661

rs_758287054

4 SubmittersRCV000852832 RCV001700470

NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)

SNV
Germline

Chr2:178610090

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60984033

rs_906494713

5 SubmittersRCV000852521 RCV001216730 RCV001328329 RCV002442788 RCV006252737

NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)

SNV
Germline

Chr2:178631034

Conflicting classifications of pathogenicity

Atrial fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349646444

rs_1339350914

2 SubmittersRCV000852858 RCV003768625

NM_001267550.2(TTN):c.33611A>C (p.Glu11204Ala)

SNV
Germline

Chr2:178679652

Conflicting classifications of pathogenicity

Heart failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349536432

rs_1202130741

2 SubmittersRCV000852872 RCV004792551

NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys)

SNV
Germline

Chr2:178695898

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999020

rs_187792775

3 SubmittersRCV000852878 RCV001562580

NM_001267550.2(TTN):c.29305T>C (p.Tyr9769His)

SNV
Germline

Chr2:178706569

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999412

rs_778087108

2 SubmittersRCV000852881 RCV006265330

NM_001267550.2(TTN):c.19484G>A (p.Gly6495Asp)

SNV
Germline

Chr2:178728340

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349555451

rs_182633829

3 SubmittersRCV000852899 RCV003141869

NM_001267550.2(TTN):c.16464A>C (p.Lys5488Asn)

SNV
Germline

Chr2:178732597

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002028

rs_760521859

4 SubmittersRCV000852910 RCV001567254

NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn)

SNV
Germline

Chr2:178784183

Conflicting classifications of pathogenicity

Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005767

rs_759686739

3 SubmittersRCV000852944 RCV001331625 RCV001585794

NM_001267550.2(TTN):c.25064-4A>G

SNV
Germline

Chr2:178717814

Conflicting classifications of pathogenicity

Familial restrictive cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000286

rs_747247583

2 SubmittersRCV000853153 RCV000863734

NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter)

SNV
Unknown

Chr2:178573276

Pathogenic

Hypertrophic cardiomyopathy

Criteria Provided
Single Submitter

CA349645084

rs_1198682781

1 SubmittersRCV001293211

NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu)

SNV
Germline

Chr2:178589681

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA349466297

rs_2049804283

3 SubmittersRCV001293202 RCV002507456 RCV006650463

NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)

SNV
Germline

Chr2:178552518

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1987795

rs_183939928

9 SubmittersRCV000863180 RCV001086197 RCV002363215 RCV005405355 RCV005626243

NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)

SNV
Germline

Chr2:178588593

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992144

rs_561183059

3 SubmittersRCV000863129 RCV002336762 RCV003141875

NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)

SNV
Germline

Chr2:178712205

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1999759

rs_148355969

7 SubmittersRCV000863182 RCV001088473 RCV005405356

NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)

SNV
Germline

Chr2:178717258

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000211

rs_777349143

4 SubmittersRCV000863427 RCV001712803

NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)

SNV
Germline

Chr2:178773149

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004751

rs_184428451

6 SubmittersRCV000863088 RCV001170100 RCV002275165 RCV002399869 RCV005405353

NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)

SNV
Germline

Chr2:178531474

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60954123

rs_752897450

4 SubmittersRCV000865745 RCV002064518 RCV002495252 RCV002409037

NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)

SNV
Germline

Chr2:178531636

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985329

rs_775644738

4 SubmittersRCV000865716 RCV001132526 RCV001132525 RCV001133450 RCV001132524 RCV001133451 RCV003222157 RCV002409036

NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)

SNV
Germline

Chr2:178532489

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985479

rs_574420969

4 SubmittersRCV000866599 RCV001195473 RCV002399896 RCV004735838

NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg)

SNV
Germline

Chr2:178547635

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987217

rs_377660595

2 SubmittersRCV000865428 RCV002363229

NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)

SNV
Germline

Chr2:178563644

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989061

rs_373909196

4 SubmittersRCV000867909 RCV002345987 RCV003141878

NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)

SNV
Germline

Chr2:178564355

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430251058

rs_1438778988

2 SubmittersRCV000867700 RCV003768658

NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)

SNV
Germline

Chr2:178573330

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990449

rs_370474301

6 SubmittersRCV000868385 RCV001355526 RCV006702211

NM_001267550.2(TTN):c.72720T>A (p.Val24240=)

SNV
Germline

Chr2:178573412

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990464

rs_550285671

5 SubmittersRCV000870445 RCV001136391 RCV001136393 RCV001136390 RCV001136392 RCV001136394 RCV001570141 RCV003235427 RCV003353074

NM_001267550.2(TTN):c.66794C>T (p.Ala22265Val)

SNV
Germline

Chr2:178580585

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991428

rs_750836266

5 SubmittersRCV000864416 RCV002352518 RCV004538217 RCV005240653 RCV005633766

NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)

SNV
Germline

Chr2:178590564

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430266451

rs_1576089893

2 SubmittersRCV000870155 RCV001395275

NM_001267550.2(TTN):c.60928C>T (p.Arg20310Cys)

SNV
Germline

Chr2:178590797

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1992428

rs_200898955

4 SubmittersRCV000867314 RCV001083782 RCV004735841 RCV006459993

NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)

SNV
Germline

Chr2:178599360

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993249

rs_771353550

3 SubmittersRCV001131038 RCV001133996 RCV001131039 RCV001133997 RCV001133995 RCV002064540 RCV003362992

NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)

SNV
Germline

Chr2:178602392

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993547

rs_764568599

5 SubmittersRCV000866210 RCV001585819 RCV002434090 RCV006702208

NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)

SNV
Germline

Chr2:178605099

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993703

rs_747908048

6 SubmittersRCV000868800 RCV001136166 RCV001132769 RCV001132770 RCV001136164 RCV001136165 RCV001729724 RCV001729725 RCV002434104

NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)

SNV
Germline

Chr2:178605234

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993715

rs_367580862

4 SubmittersRCV000868264 RCV001759652 RCV003169149

NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)

SNV
Germline

Chr2:178630293

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995713

rs_376445406

4 SubmittersRCV000868047 RCV001133751 RCV001130791 RCV001133748 RCV001133749 RCV001133750 RCV001433548 RCV002409058

NM_001267550.2(TTN):c.38961A>G (p.Val12987=)

SNV
Germline

Chr2:178652735

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996930

rs_552745605

2 SubmittersRCV000867516 RCV005405362

NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)

SNV
Germline

Chr2:178698880

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999047

rs_553520141

4 SubmittersRCV000868527 RCV002501280 RCV003141879 RCV006459997

NM_001267550.2(TTN):c.28011C>T (p.Asp9337=)

SNV
Germline

Chr2:178711225

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999675

rs_757848062

3 SubmittersRCV000866261 RCV001135401 RCV001135402 RCV001135403 RCV001135404 RCV001130353 RCV001585820

NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)

SNV
Germline

Chr2:178721997

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA2000790

rs_754885396

6 SubmittersRCV000867034 RCV001570921 RCV003330976 RCV002495268

NM_001267550.2(TTN):c.18870A>G (p.Glu6290=)

SNV
Germline

Chr2:178729168

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001506

rs_777577096

2 SubmittersRCV000867643 RCV006686931

NM_001267550.2(TTN):c.14141G>A (p.Gly4714Asp)

SNV
Germline

Chr2:178738312

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002459

rs_750125429

2 SubmittersRCV000867338 RCV003141877

NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)

SNV
Germline

Chr2:178799710

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006241

rs_752452129

2 SubmittersRCV000869186 RCV003141880

NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)

SNV
Germline

Chr2:178539724

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986390

rs_562178341

4 SubmittersRCV000872200 RCV001546849 RCV002363275

NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)

SNV
Germline

Chr2:178547286

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60972829

rs_1042759526

4 SubmittersRCV001132944 RCV001132945 RCV001132943 RCV001132942 RCV001136382 RCV002363318 RCV002065447 RCV003438547

NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)

SNV
Germline

Chr2:178550064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987566

rs_767435344

2 SubmittersRCV002539116 RCV003141881

NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)

SNV
Germline

Chr2:178580141

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991363

rs_770418172

4 SubmittersRCV000871836 RCV001469669 RCV003307638 RCV004538307

NM_001267550.2(TTN):c.30702G>A (p.Lys10234=)

SNV
Germline

Chr2:178698895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60993676

rs_573246972

4 SubmittersRCV001484171 RCV004530880 RCV005405384 RCV005633771

NM_001267550.2(TTN):c.25956A>G (p.Ile8652Met)

SNV
Germline

Chr2:178715230

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000093

rs_760452917

2 SubmittersRCV003141882 RCV002539117

NM_001267550.2(TTN):c.9195G>A (p.Lys3065=)

SNV
Germline

Chr2:178768124

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004408

rs_780650145

3 SubmittersRCV000877506 RCV001129968 RCV001129969 RCV001135008 RCV001135009 RCV001129967 RCV006666439

NM_001267550.2(TTN):c.31548G>A (p.Glu10516=)

SNV
Germline

Chr2:178693655

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998916

rs_777887659

2 SubmittersRCV001129106 RCV001131783 RCV001131784 RCV001131785 RCV001131786 RCV005208670

NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile)

SNV
Germline

Chr2:178569649

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989905

rs_773127796

4 SubmittersRCV000887823 RCV001130427 RCV001087517 RCV001135505 RCV001135504 RCV001130428 RCV001135506

NM_001267550.2(TTN):c.32727A>G (p.Pro10909=)

SNV
Germline

Chr2:178684078

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA430128639

rs_756675105

2 SubmittersRCV000910794

NM_001267550.2(TTN):c.99996G>A (p.Glu33332=)

SNV
Germline

Chr2:178537113

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986092

rs_754693509

3 SubmittersRCV000924120 RCV001450701 RCV006720948

NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)

SNV
Germline

Chr2:178537209

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986112

rs_747130957

4 SubmittersRCV001136257 RCV001136254 RCV001136255 RCV001136256 RCV001136258 RCV001471963 RCV002382070 RCV003330995

NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)

SNV
Germline

Chr2:178560683

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988641

rs_758811159

3 SubmittersRCV001133269 RCV001133270 RCV001133271 RCV001133268 RCV001134722 RCV001464460 RCV002354761

NM_001267550.2(TTN):c.17910T>C (p.His5970=)

SNV
Germline

Chr2:178730623

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430292939

rs_1175537809

2 SubmittersRCV000912805 RCV002540846

NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)

SNV
Germline

Chr2:178527716

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430092428

rs_1445566495

4 SubmittersRCV000940416 RCV002416202 RCV005405417 RCV005633778

NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)

SNV
Germline

Chr2:178531255

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60953979

rs_904049980

3 SubmittersRCV000940825 RCV003141900 RCV004994143

NM_001267550.2(TTN):c.32160C>T (p.Phe10720=)

SNV
Germline

Chr2:178688714

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60987896

rs_1020838415

2 SubmittersRCV001431475 RCV004720023

NM_001267550.2(TTN):c.26373T>C (p.Ile8791=)

SNV
Germline

Chr2:178714401

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60968178

rs_949446550

2 SubmittersRCV000929832 RCV003169340

NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)

SNV
Germline

Chr2:178733397

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002136

rs_563456537

2 SubmittersRCV000942522 RCV003141901

NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)

SNV
Germline

Chr2:178579242

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA430260260

rs_1326950042

3 SubmittersRCV001502439 RCV002320185 RCV006269260

NM_001267550.2(TTN):c.44425-8A>C

SNV
Germline

Chr2:178625404

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA915942164

rs_1576608720

2 SubmittersRCV001448846 RCV001799016

NM_001267550.2(TTN):c.3730-5C>T

SNV
Germline

Chr2:178779467

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA915942202

rs_1574709001

2 SubmittersRCV001463604 RCV002337018

NM_001267550.2(TTN):c.28174+1G>T

SNV
Germline

Chr2:178711061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

No Assertion Criteria Provided

CA349439754

rs_1577824925

1 SubmittersRCV000985109

NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)

SNV
Germline

Chr2:178712315

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60965445

rs_769097909

2 SubmittersRCV000986942 RCV002549675

NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)

SNV
Unknown

Chr2:178728770

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349557534

rs_1578126437

1 SubmittersRCV000986943

NM_001267550.2(TTN):c.669+1G>A

SNV
Germline

Chr2:178799824

Pathogenic

Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349524646

rs_1574982376

2 SubmittersRCV000986947 RCV004792599

NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)

SNV
Germline

Chr2:178565715

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989350

rs_181766682

7 SubmittersRCV000993493 RCV002346198 RCV005405473

NM_001267550.2(TTN):c.21833T>A (p.Ile7278Lys)

SNV
Germline

Chr2:178723174

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000940

rs_766571996

3 SubmittersRCV000993398 RCV003150376

NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)

SNV
Germline

Chr2:178779033

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005418

rs_539470256

4 SubmittersRCV000993435 RCV001293096

NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)

SNV
Germline

Chr2:178530658

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349407357

rs_1575219172

1 SubmittersRCV002881463

NM_001267550.2(TTN):c.105707C>T (p.Ser35236Phe)

SNV
Germline

Chr2:178530908

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349408030

rs_1575223142

2 SubmittersRCV000997316 RCV005405476

NM_001267550.2(TTN):c.96434G>A (p.Arg32145His)

SNV
Germline

Chr2:178543539

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1986752

rs_759948951

4 SubmittersRCV000997345 RCV002481785 RCV006650625

NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

SNV
Germline

Chr2:178546655

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60972507

rs_897518524

2 SubmittersRCV000997352 RCV002550711

NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)

SNV
Germline

Chr2:178561451

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60985053

rs_373268234

3 SubmittersRCV000997372 RCV002346205 RCV002067624

NM_001267550.2(TTN):c.71537G>A (p.Ser23846Asn)

SNV
Germline

Chr2:178574595

Conflicting classifications of pathogenicity

Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990616

rs_760506346

3 SubmittersRCV002328225 RCV004736157 RCV005635513

NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val)

SNV
Germline

Chr2:178574680

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990628

rs_776911847

5 SubmittersRCV000997401 RCV004800655

NM_001267550.2(TTN):c.71307T>G (p.Thr23769=)

SNV
Germline

Chr2:178574825

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430257634

rs_1575793682

2 SubmittersRCV000997403 RCV005225194

NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)

SNV
Germline

Chr2:178577431

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61004825

rs_927987931

3 SubmittersRCV000997412 RCV002068733 RCV004030220

NM_001267550.2(TTN):c.65937G>A (p.Pro21979=)

SNV
Germline

Chr2:178582519

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991606

rs_765734959

3 SubmittersRCV000997422 RCV001481580 RCV004994176

NM_001267550.2(TTN):c.64453C>A (p.Arg21485=)

SNV
Germline

Chr2:178585291

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991900

rs_768345594

3 SubmittersRCV001133466 RCV001133467 RCV001133463 RCV001133464 RCV001133465 RCV002067626 RCV003307793

NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)

SNV
Germline

Chr2:178589044

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1992192

rs_370080086

6 SubmittersRCV000997433 RCV002454246 RCV002489499 RCV003317410

NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)

SNV
Germline

Chr2:178592587

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430267200

rs_1576125620

2 SubmittersRCV000997440 RCV003769363

NM_001267550.2(TTN):c.50925T>C (p.Pro16975=)

SNV
Germline

Chr2:178611204

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430272295

rs_1576415390

2 SubmittersRCV000997461 RCV006556883

NM_001267550.2(TTN):c.43326A>G (p.Lys14442=)

SNV
Germline

Chr2:178632680

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61003507

rs_878977270

2 SubmittersRCV000997475 RCV002400168

NM_001267550.2(TTN):c.39463+2T>C

SNV
Germline

Chr2:178651664

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349456197

rs_1576956162

2 SubmittersRCV000997481 RCV003769364

NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr)

SNV
Germline

Chr2:178657765

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1997225

rs_762460746

3 SubmittersRCV000997487 RCV002479179 RCV003994187

NM_001267550.2(TTN):c.36144C>A (p.Val12048=)

SNV
Germline

Chr2:178664712

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60974805

rs_879247400

2 SubmittersRCV000997494 RCV006556884

NM_001267550.2(TTN):c.35876-2A>G

SNV
Germline

Chr2:178665793

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349505885

rs_1577134819

1 SubmittersRCV000997495

NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val)

SNV
Germline

Chr2:178683261

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1998509

rs_763205133

1 SubmittersRCV001134018 RCV001134020 RCV001134019 RCV001134021 RCV001134017

NM_001267550.2(TTN):c.18586A>G (p.Lys6196Glu)

SNV
Germline

Chr2:178729667

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001594

rs_756791385

2 SubmittersRCV003137098 RCV005405997

NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)

SNV
Germline

Chr2:178740396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002662

rs_762681376

3 SubmittersRCV000997548 RCV001482725 RCV003160142

NM_001267550.2(TTN):c.9576A>G (p.Glu3192=)

SNV
Germline

Chr2:178766508

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2004288

rs_771979221

2 SubmittersRCV000997586 RCV001485774

NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)

SNV
Germline

Chr2:178773147

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2004750

rs_370857722

7 SubmittersRCV000997591 RCV002505518 RCV002400169 RCV004544999 RCV006269274

NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp)

SNV
Germline

Chr2:178775072

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2005004

rs_745719077

5 SubmittersRCV000997598 RCV002505519 RCV005405477

NM_001267550.2(TTN):c.5813T>C (p.Val1938Ala)

SNV
Germline

Chr2:178776051

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005136

rs_781196395

3 SubmittersRCV002347389 RCV005635517 RCV004736159

NM_001267550.2(TTN):c.1197G>A (p.Ser399=)

SNV
Germline

Chr2:178794970

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006124

rs_573255254

3 SubmittersRCV000997605 RCV001502768 RCV004994177

NM_001267550.2(TTN):c.670-2A>G

SNV
Germline

Chr2:178799733

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

rs_1574980606

1 SubmittersRCV006602204

NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)

SNV
Germline

Chr2:178528300

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349401258

rs_1575185742

2 SubmittersRCV001004968 RCV003769409

NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)

SNV
Germline

Chr2:178672157

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349518359

rs_557526069

1 SubmittersRCV001004969

NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)

SNV
Germline

Chr2:178580008

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349424095

rs_1200988060

7 SubmittersRCV001007836 RCV001059927 RCV002281145 RCV004764947 RCV005502967

NM_001267550.2(TTN):c.2370+2T>C

SNV
Germline

Chr2:178785846

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

No Assertion Criteria Provided

CA349499428

rs_1574817395

1 SubmittersRCV001007835

NM_001267550.2(TTN):c.89572C>T (p.Gln29858Ter)

SNV
Germline

Chr2:178553328

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349517620

rs_1316523481

1 SubmittersRCV001007993

NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)

SNV
Germline

Chr2:178599298

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349529701

rs_1576247054

3 SubmittersRCV001008693 RCV002434395 RCV003769413

NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter)

SNV
Germline

Chr2:178770506

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349677728

rs_1574570125

2 SubmittersRCV001008011 RCV001299915

NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)

SNV
Germline

Chr2:178574044

Likely pathogenic

Hypertrophic cardiomyopathy 9
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349648618

rs_1709195189

3 SubmittersRCV001030449 RCV002327242 RCV003768930

NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)

SNV
Germline

Chr2:178529166

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985067

rs_372116188

2 SubmittersRCV001062866 RCV002418529

NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)

SNV
Germline

Chr2:178533160

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985600

rs_746863482

2 SubmittersRCV001035354 RCV001799028

NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)

SNV
Germline

Chr2:178536974

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426692

rs_1691881913

1 SubmittersRCV001037352

NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)

SNV
Germline

Chr2:178548967

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349492067

rs_1305222903

3 SubmittersRCV001063159 RCV001843956 RCV002365745

NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)

SNV
Germline

Chr2:178551225

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1987651

rs_773600127

3 SubmittersRCV001043496 RCV002489580 RCV003486957

NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)

SNV
Germline

Chr2:178552815

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349513908

rs_1699948037

1 SubmittersRCV001054636

NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)

SNV
Germline

Chr2:178553242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349517068

rs_1700085960

2 SubmittersRCV001061053 RCV006450859

NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)

SNV
Germline

Chr2:178558493

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540188

rs_1702355636

1 SubmittersRCV001061396

NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)

SNV
Germline

Chr2:178558570

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540667

rs_1702376984

1 SubmittersRCV001071063

NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)

SNV
Germline

Chr2:178559604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1988487

rs_752378132

1 SubmittersRCV001051503

NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)

SNV
Germline

Chr2:178560865

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1988673

rs_769664554

5 SubmittersRCV001058528 RCV004735949 RCV004764951 RCV004994219

NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)

SNV
Germline

Chr2:178560982

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349555434

rs_1703437679

4 SubmittersRCV001071072 RCV006270460 RCV002355102 RCV003232208

NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)

SNV
Germline

Chr2:178562716

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive titinopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349567655

rs_886055237

7 SubmittersRCV003991039 RCV001072067 RCV002274136 RCV006556981 RCV003160596

NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)

SNV
Germline

Chr2:178565585

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588318

rs_1575673206

1 SubmittersRCV001060761

NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)

SNV
Germline

Chr2:178570901

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349627765

rs_750699540

2 SubmittersRCV001070724 RCV006666741

NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)

SNV
Germline

Chr2:178571642

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633586

rs_1708235406

1 SubmittersRCV001064281

NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)

SNV
Germline

Chr2:178572340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636833

rs_1708526179

1 SubmittersRCV001062394

NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)

SNV
Germline

Chr2:178579621

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423453

rs_2047236705

1 SubmittersRCV001057099

NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)

SNV
Germline

Chr2:178586685

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349442654

rs_2049052530

1 SubmittersRCV001068229

NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)

SNV
Germline

Chr2:178590356

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349473197

rs_2049944547

1 SubmittersRCV001065928

NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)

SNV
Germline

Chr2:178591146

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349483811

rs_2050116026

3 SubmittersRCV001065665 RCV002320331 RCV005056850

NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)

SNV
Germline

Chr2:178592063

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489517

rs_1413760246

1 SubmittersRCV001036635

NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)

SNV
Germline

Chr2:178595636

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349515124

rs_2051361827

5 SubmittersRCV001040881 RCV003222202 RCV003989630

NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)

SNV
Germline

Chr2:178601108

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349537724

rs_2053315643

1 SubmittersRCV001051218

NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)

SNV
Germline

Chr2:178602366

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349545583

rs_2053680009

1 SubmittersRCV001044795

NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)

SNV
Germline

Chr2:178604206

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349552314

rs_2054207747

1 SubmittersRCV001059312

NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)

SNV
Germline

Chr2:178607228

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349564708

rs_2055101555

2 SubmittersRCV001046507 RCV005762153

NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)

SNV
Germline

Chr2:178609352

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349578797

rs_2055753321

2 SubmittersRCV001049460 RCV001560903

NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)

SNV
Germline

Chr2:178611951

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349596708

rs_72677249

2 SubmittersRCV001058854 RCV002445307

NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)

SNV
Germline

Chr2:178612430

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349599291

rs_2056504499

3 SubmittersRCV001069409 RCV003480949

NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)

SNV
Germline

Chr2:178612963

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601160

rs_72677247

1 SubmittersRCV001039259

NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)

SNV
Germline

Chr2:178619858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626130

rs_2058001839

1 SubmittersRCV001041136

NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)

SNV
Germline

Chr2:178620249

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60993040

rs_879139686

4 SubmittersRCV001044590 RCV004017779 RCV005502983 RCV006255189

NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)

SNV
Germline

Chr2:178633324

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349653103

rs_376799532

3 SubmittersRCV001043455 RCV004764948

NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)

SNV
Germline

Chr2:178634576

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349655506

rs_2060187635

8 SubmittersRCV001068103 RCV001594408 RCV003228802 RCV003486960 RCV002508289 RCV006666733

NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)

SNV
Germline

Chr2:178689056

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA349553937

rs_1396898734

4 SubmittersRCV001048499 RCV004764949 RCV005633838 RCV006556964

NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter)

SNV
Germline

Chr2:178795039

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349518094

rs_932770906

3 SubmittersRCV001068045 RCV004764954 RCV004783897

NM_001267550.2(TTN):c.57544+1G>A

SNV
Germline

Chr2:178597537

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519449

rs_2052045274

1 SubmittersRCV001047758

NM_001267550.2(TTN):c.39463+1G>C

SNV
Germline

Chr2:178651665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349456203

rs_1553770003

1 SubmittersRCV001068199

NM_001267550.2(TTN):c.33910+1G>T

SNV
Germline

Chr2:178678413

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60982643

rs_893407745

1 SubmittersRCV001055153

NM_001267550.2(TTN):c.670-1G>A

SNV
Germline

Chr2:178799732

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349524492

rs_1054895701

1 SubmittersRCV001064549

NM_001267550.2(TTN):c.56348-1G>A

SNV
Germline

Chr2:178599446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532846

rs_2052685102

1 SubmittersRCV001064317

NM_001267550.2(TTN):c.54811+1G>A

SNV
Germline

Chr2:178603875

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349549442

rs_1205836993

6 SubmittersRCV001053576 RCV001784605 RCV002436611 RCV003486959 RCV006455379

NM_001267550.2(TTN):c.100766-2A>T

SNV
Germline

Chr2:178535851

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349424663

rs_1364779690

3 SubmittersRCV001039934 RCV004726813 RCV006687279

NM_001267550.2(TTN):c.32011+1G>T

SNV
Germline

Chr2:178689289

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349554647

rs_1471534246

4 SubmittersRCV001065061 RCV002223983

NM_001267550.2(TTN):c.55432+1G>A

SNV
Germline

Chr2:178601657

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349541402

rs_2053485503

1 SubmittersRCV001069218

NM_001267550.2(TTN):c.32887+1G>A

SNV
Germline

Chr2:178683210

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1998504

rs_546105899

1 SubmittersRCV001042198

NM_001267550.2(TTN):c.32392+1G>A

SNV
Germline

Chr2:178685517

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349549069

rs_1424314036

3 SubmittersRCV001060367 RCV002223979

NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter)

SNV
Germline

Chr2:178560314

Pathogenic

Multiminicore myopathy

Criteria Provided
Single Submitter

CA349547753

rs_1703164675

1 SubmittersRCV001260953

NM_001267550.2(TTN):c.32312-1G>A

SNV
Germline

Chr2:178685599

Pathogenic/Likely pathogenic

Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349549698

rs_2070649864

2 SubmittersRCV001260952

NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)

SNV
Germline

Chr2:178562532

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988898

rs_374119634

6 SubmittersRCV001092230 RCV001135214 RCV001135216 RCV001135213 RCV001135215 RCV001135217 RCV002348553

NM_001267550.2(TTN):c.83439T>G (p.Tyr27813Ter)

SNV
Germline

Chr2:178562693

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349567501

rs_569816178

1 SubmittersRCV001092232

NM_001267550.2(TTN):c.80167C>T (p.Arg26723Cys)

SNV
Germline

Chr2:178565965

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349590692

rs_1412497882

2 SubmittersRCV003143239 RCV005405992

NM_001267550.2(TTN):c.52684A>T (p.Lys17562Ter)

SNV
Germline

Chr2:178608199

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349571905

rs_2055391062

1 SubmittersRCV001090562

NM_001267550.2(TTN):c.51437-1G>C

SNV
Germline

Chr2:178609987

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349585751

rs_2055916646

3 SubmittersRCV001090563 RCV006556999

NM_001267550.2(TTN):c.39625+1G>T

SNV
Germline

Chr2:178651242

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

rs_970681023

1 SubmittersRCV006593439

NM_001267550.2(TTN):c.37135C>T (p.Gln12379Ter)

SNV
Germline

Chr2:178662014

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349489688

rs_1281488157

1 SubmittersRCV001090574

NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter)

SNV
Germline

Chr2:178682727

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349540964

rs_747806875

2 SubmittersRCV001091080 RCV003769018

NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln)

SNV
Germline

Chr2:178729711

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001605

rs_201951252

2 SubmittersRCV001091084

NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro)

SNV
Germline

Chr2:178795068

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006141

rs_376015894

3 SubmittersRCV002430735 RCV003138268 RCV005405918

NM_001267550.2(TTN):c.7057+1G>A

SNV
Germline

Chr2:178774206

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2004914

rs_763909866

3 SubmittersRCV001095649 RCV001556481 RCV002554880

NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)

SNV
Germline

Chr2:178528570

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60950133

rs_762859509

4 SubmittersRCV001134476 RCV001134477 RCV001134479 RCV001134478 RCV001134480 RCV001531496 RCV002070571 RCV004032298

NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)

SNV
Germline

Chr2:178531095

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985240

rs_778207634

3 SubmittersRCV001134615 RCV001134616 RCV001134617 RCV001134618 RCV001134619 RCV001231659 RCV001551017

NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr)

SNV
Germline

Chr2:178531725

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985339

rs_779363624

1 SubmittersRCV001134944 RCV001134946 RCV001133452 RCV001134945 RCV001134947

NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)

SNV
Germline

Chr2:178532570

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985494

rs_190398670

2 SubmittersRCV001130171 RCV001130172 RCV001130173 RCV001130175 RCV001130174 RCV002556830

NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)

SNV
Germline

Chr2:178533825

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985705

rs_773984912

6 SubmittersRCV001134097 RCV001134098 RCV001134099 RCV001134096 RCV001134095 RCV001170294 RCV001779121 RCV001326846

NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser)

SNV
Germline

Chr2:178534762

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985832

rs_761821275

2 SubmittersRCV001135827 RCV001135828 RCV001135825 RCV001135824 RCV001135826 RCV003142072

NM_001267550.2(TTN):c.95824G>A (p.Val31942Ile)

SNV
Germline

Chr2:178544405

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1986869

rs_757627281

1 SubmittersRCV001135718 RCV001135719 RCV001135720 RCV001135721 RCV001135722

NM_001267550.2(TTN):c.95490A>G (p.Lys31830=)

SNV
Germline

Chr2:178545620

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430241821

rs_1696713042

2 SubmittersRCV001128835 RCV001128836 RCV001128837 RCV001135829 RCV001135830 RCV006557037

NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)

SNV
Germline

Chr2:178548338

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430243311

rs_1280272876

4 SubmittersRCV001133149 RCV001133148 RCV001134627 RCV001134628 RCV001133150 RCV001288141 RCV002556856 RCV002365807

NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)

SNV
Germline

Chr2:178551188

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1987643

rs_374474227

5 SubmittersRCV001135359 RCV001135356 RCV001135358 RCV001135355 RCV001135357 RCV002473203 RCV003150387

NM_001267550.2(TTN):c.89410G>A (p.Val29804Ile)

SNV
Germline

Chr2:178553595

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987933

rs_747784568

1 SubmittersRCV001134230 RCV001135723 RCV001135725 RCV001135724 RCV001135726

NM_001267550.2(TTN):c.88047G>A (p.Lys29349=)

SNV
Germline

Chr2:178557107

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988209

rs_748102856

3 SubmittersRCV001136152 RCV001136153 RCV001136154 RCV001136155 RCV001136156 RCV004994262 RCV006266582

NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala)

SNV
Germline

Chr2:178561129

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1988710

rs_147895770

2 SubmittersRCV001132447 RCV001132445 RCV001132446 RCV001133353 RCV001133354 RCV003317435

NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)

SNV
Germline

Chr2:178561450

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988748

rs_776756769

3 SubmittersRCV001129841 RCV001129840 RCV001132531 RCV001132529 RCV001132530 RCV002348572 RCV004590103

NM_001267550.2(TTN):c.82241G>A (p.Arg27414Gln)

SNV
Germline

Chr2:178563891

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989102

rs_763336230

3 SubmittersRCV001134367 RCV001134368 RCV001134369 RCV001134371 RCV001134370 RCV002348574 RCV001548612

NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys)

SNV
Germline

Chr2:178567750

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989613

rs_373530641

3 SubmittersRCV001129927 RCV001129928 RCV001129929 RCV001130630 RCV001130631 RCV005405495 RCV005423852

NM_001267550.2(TTN):c.75489C>T (p.Thr25163=)

SNV
Germline

Chr2:178570643

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430254959

rs_1234238096

2 SubmittersRCV001128741 RCV001128742 RCV001128739 RCV001128738 RCV001128740 RCV001429357

NM_001267550.2(TTN):c.75366G>A (p.Val25122=)

SNV
Germline

Chr2:178570766

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990061

rs_750424357

3 SubmittersRCV001134373 RCV001134374 RCV001134375 RCV001134376 RCV001134372 RCV002556874 RCV002327407

NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)

SNV
Germline

Chr2:178572641

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990363

rs_545377175

7 SubmittersRCV001132855 RCV001132856 RCV001132858 RCV001131873 RCV001132857 RCV001439876 RCV002327406 RCV001700975 RCV001702879

NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)

SNV
Germline

Chr2:178573906

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1990530

rs_202098308

8 SubmittersRCV001129506 RCV001129505 RCV001129507 RCV001136492 RCV001136491 RCV001532418 RCV002327404 RCV005863358 RCV006688847

NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly)

SNV
Germline

Chr2:178573983

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990539

rs_771209223

2 SubmittersRCV001132242 RCV001132243 RCV001132244 RCV001132245 RCV001132246 RCV003142064

NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)

SNV
Germline

Chr2:178574579

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990614

rs_373388052

3 SubmittersRCV001133360 RCV001133362 RCV001133363 RCV001133359 RCV001133361 RCV006655699 RCV002070561

NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile)

SNV
Germline

Chr2:178575553

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990761

rs_542004766

2 SubmittersRCV001130757 RCV001130758 RCV001130759 RCV001130761 RCV001130760 RCV005633902

NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)

SNV
Germline

Chr2:178576786

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA61004208

rs_879119970

3 SubmittersRCV001131022 RCV001131023 RCV001133983 RCV001133985 RCV001133984 RCV003142061 RCV005405496

NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys)

SNV
Germline

Chr2:178581688

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991474

rs_768049902

2 SubmittersRCV001129189 RCV001129191 RCV001129190 RCV001131874 RCV001131875 RCV001293207

NM_001267550.2(TTN):c.66552C>T (p.Gly22184=)

SNV
Germline

Chr2:178581716

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991484

rs_146502705

2 SubmittersRCV001131876 RCV001132860 RCV001132861 RCV001132862 RCV001132859 RCV001414317

NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)

SNV
Germline

Chr2:178587164

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991978

rs_775357802

3 SubmittersRCV001133599 RCV001133601 RCV001135091 RCV001135092 RCV001133600 RCV002070562 RCV003163291

NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe)

SNV
Germline

Chr2:178589074

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992197

rs_773806020

5 SubmittersRCV001130541 RCV001135621 RCV001135623 RCV001135622 RCV001135624 RCV002451335 RCV001811669

NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)

SNV
Germline

Chr2:178591786

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992561

rs_761455000

3 SubmittersRCV001132006 RCV001132008 RCV001132009 RCV001132005 RCV001132007 RCV003769250 RCV005286316

NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala)

SNV
Germline

Chr2:178601378

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1993423

rs_779623773

1 SubmittersRCV001130554 RCV001130552 RCV001131277 RCV001130553 RCV001131278

NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys)

SNV
Germline

Chr2:178601893

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993494

rs_756341923

3 SubmittersRCV001128749 RCV001128750 RCV001128748 RCV001135755 RCV001135756 RCV004538352 RCV003142054

NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)

SNV
Germline

Chr2:178604056

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993602

rs_727504192

6 SubmittersRCV001134523 RCV001134521 RCV001135953 RCV001135954 RCV001134522 RCV001557794 RCV002436717 RCV003150386

NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)

SNV
Germline

Chr2:178604741

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993651

rs_773746281

4 SubmittersRCV001131642 RCV001131643 RCV001131644 RCV001131645 RCV001131646 RCV001759893 RCV002429772

NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)

SNV
Germline

Chr2:178607593

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993858

rs_760963888

2 SubmittersRCV001129412 RCV001129413 RCV001132128 RCV001132129 RCV001132130 RCV003736993

NM_001267550.2(TTN):c.50538T>C (p.Ile16846=)

SNV
Germline

Chr2:178611771

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994358

rs_763711863

3 SubmittersRCV001130778 RCV001130780 RCV001130779 RCV001130781 RCV001130782 RCV005213463 RCV006721172

NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=)

SNV
Germline

Chr2:178616790

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994917

rs_760816246

1 SubmittersRCV001131527 RCV001131529 RCV001131528 RCV001131530 RCV001134524

NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)

SNV
Germline

Chr2:178620824

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995369

rs_532009022

3 SubmittersRCV001132262 RCV001133170 RCV001133171 RCV001133172 RCV001133173 RCV002411641 RCV003769252

NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)

SNV
Germline

Chr2:178629352

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430112770

rs_772552324

3 SubmittersRCV001135112 RCV001135108 RCV001135109 RCV001135110 RCV001135111 RCV003769636 RCV005762183

NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg)

SNV
Germline

Chr2:178634828

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified

Criteria Provided
Conflicting Classifications

CA1996150

rs_367751077

2 SubmittersRCV001134264 RCV001134265 RCV001134266 RCV001134267 RCV001134268 RCV006688848

NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr)

SNV
Germline

Chr2:178636002

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996244

rs_144963490

1 SubmittersRCV001131406 RCV001131407 RCV001131404 RCV001131403 RCV001131405

NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys)

SNV
Germline

Chr2:178642276

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996467

rs_528749203

3 SubmittersRCV001129101 RCV001136078 RCV001136079 RCV001136080 RCV001136081 RCV002379656 RCV003326544

NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln)

SNV
Germline

Chr2:178673651

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997987

rs_764974634

2 SubmittersRCV001133183 RCV001133180 RCV001133181 RCV001133182 RCV001133184 RCV003142066

NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser)

SNV
Germline

Chr2:178674326

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998008

rs_556948427

3 SubmittersRCV001129635 RCV001134649 RCV001134650 RCV001134651 RCV001134652 RCV004734024 RCV003142057

NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg)

SNV
Germline

Chr2:178678443

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1998201

rs_372841136

5 SubmittersRCV001129854 RCV001132574 RCV001132576 RCV001132573 RCV001132575 RCV001585995 RCV003150385

NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn)

SNV
Germline

Chr2:178684733

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998594

rs_370317568

2 SubmittersRCV001130556 RCV001130557 RCV001130559 RCV001130558 RCV001130560 RCV003142060

NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)

SNV
Germline

Chr2:178688211

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998686

rs_747597729

3 SubmittersRCV001131411 RCV001131412 RCV001131413 RCV001131409 RCV001131410 RCV002070533 RCV002511049

NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)

SNV
Germline

Chr2:178702223

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999160

rs_764333790

2 SubmittersRCV001133072 RCV001133074 RCV001133073 RCV001136522 RCV001136523 RCV002070554

NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)

SNV
Germline

Chr2:178706498

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430279253

rs_1560529237

2 SubmittersRCV001133387 RCV001133383 RCV001133385 RCV001133384 RCV001133386 RCV003106127

NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys)

SNV
Germline

Chr2:178710912

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999637

rs_778573156

4 SubmittersRCV001130228 RCV001130224 RCV001130226 RCV001130225 RCV001130227 RCV003142059

NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile)

SNV
Germline

Chr2:178712901

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999862

rs_766095051

2 SubmittersRCV001131181 RCV001131180 RCV001134141 RCV001134142 RCV001134143 RCV001558016

NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg)

SNV
Germline

Chr2:178713905

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999947

rs_760040495

2 SubmittersRCV001131302 RCV001131300 RCV001131301 RCV001131303 RCV001134279 RCV005633903

NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg)

SNV
Germline

Chr2:178714424

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000021

rs_375067750

1 SubmittersRCV001128989 RCV001135961 RCV001135962 RCV001135963 RCV001135964

NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)

SNV
Germline

Chr2:178720251

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000636

rs_754815317

2 SubmittersRCV001130097 RCV001130098 RCV001130100 RCV001130099 RCV001130101 RCV002070518

NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp)

SNV
Germline

Chr2:178721053

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000738

rs_184123332

2 SubmittersRCV001131064 RCV001131065 RCV001131066 RCV001131063 RCV001134027 RCV003142062

NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr)

SNV
Germline

Chr2:178723594

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349534245

rs_786205314

3 SubmittersRCV001131548 RCV001131547 RCV001134541 RCV001134542 RCV001134543 RCV005405497 RCV005628877

NM_001267550.2(TTN):c.19377G>A (p.Val6459=)

SNV
Germline

Chr2:178728549

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001421

rs_371652207

2 SubmittersRCV001129528 RCV001129529 RCV001136530 RCV001136531 RCV001136532 RCV001447814

NM_001267550.2(TTN):c.18690C>T (p.Val6230=)

SNV
Germline

Chr2:178729466

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001558

rs_754536598

2 SubmittersRCV001133390 RCV001133392 RCV001133394 RCV001133391 RCV001133393 RCV001400607

NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)

SNV
Germline

Chr2:178730153

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001655

rs_374012753

2 SubmittersRCV001135132 RCV001135133 RCV001135134 RCV001135135 RCV001135136 RCV003142070

NM_001267550.2(TTN):c.15942T>C (p.Asn5314=)

SNV
Germline

Chr2:178733351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430294177

rs_1311178060

2 SubmittersRCV001134406 RCV001134407 RCV001134403 RCV001134405 RCV001134404 RCV001498592

NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln)

SNV
Germline

Chr2:178736018

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002399

rs_367630668

3 SubmittersRCV001129334 RCV001129332 RCV001129333 RCV001132034 RCV001132035 RCV001759891

NM_001267550.2(TTN):c.8991C>A (p.Ile2997=)

SNV
Germline

Chr2:178768845

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004465

rs_757524187

3 SubmittersRCV001130679 RCV001130680 RCV001130681 RCV001133638 RCV001133639 RCV002070523 RCV002375032

NM_001267550.2(TTN):c.8373C>T (p.His2791=)

SNV
Germline

Chr2:178770419

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004607

rs_566816279

4 SubmittersRCV001133779 RCV001133778 RCV001133780 RCV001133781 RCV001133782 RCV001478287 RCV003293895 RCV004809023

NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys)

SNV
Germline

Chr2:178775542

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005070

rs_762999586

2 SubmittersRCV001134408 RCV001134409 RCV001134410 RCV001134412 RCV001134411 RCV003142069

NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)

SNV
Germline

Chr2:178776869

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005234

rs_755324231

3 SubmittersRCV001129117 RCV001129118 RCV001129114 RCV001129116 RCV001129115 RCV002339412 RCV002070504

NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala)

SNV
Germline

Chr2:178778995

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005408

rs_768249663

5 SubmittersRCV001129434 RCV001129435 RCV001129436 RCV001129437 RCV001136420 RCV002225797 RCV005405494

NM_001267550.2(TTN):c.1446C>T (p.Ala482=)

SNV
Germline

Chr2:178793494

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006041

rs_183258737

5 SubmittersRCV001134039 RCV001134040 RCV001134041 RCV001134042 RCV001134043 RCV002070567 RCV004994259 RCV001585998

NM_001267550.2(TTN):c.68528-8T>C

SNV
Germline

Chr2:178577906

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991076

rs_746223377

3 SubmittersRCV001135618 RCV001135619 RCV001135620 RCV001135616 RCV001135617 RCV006266581 RCV001471095

NM_001267550.2(TTN):c.58433-15T>G

SNV
Germline

Chr2:178593882

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139655707

rs_2050786898

2 SubmittersRCV001132461 RCV001132462 RCV001133370 RCV001133369 RCV001133368 RCV003769255

NM_001267550.2(TTN):c.55432+10A>G

SNV
Germline

Chr2:178601648

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993456

rs_751062759

2 SubmittersRCV001134256 RCV001134257 RCV001134258 RCV001134255 RCV001135749 RCV002556872

NM_001267550.2(TTN):c.48461-11A>G

SNV
Germline

Chr2:178615495

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994809

rs_371040291

2 SubmittersRCV001131399 RCV001131400 RCV001134384 RCV001134385 RCV001134386 RCV002070532

NM_001267550.2(TTN):c.47875+12T>G

SNV
Germline

Chr2:178617108

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994959

rs_758849410

2 SubmittersRCV001131654 RCV001132674 RCV001132676 RCV001132673 RCV001132675 RCV005213464

NM_001267550.2(TTN):c.44815+14T>C

SNV
Germline

Chr2:178624451

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139657462

rs_2058737403

2 SubmittersRCV001132568 RCV001132569 RCV001132570 RCV001132567 RCV001132566 RCV003769256

NM_001267550.2(TTN):c.39464-15T>C

SNV
Germline

Chr2:178651551

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139657474

rs_2062964886

2 SubmittersRCV001136293 RCV001136295 RCV001136296 RCV001136292 RCV001136294 RCV005225240

NM_001267550.2(TTN):c.31348+14C>T

SNV
Germline

Chr2:178694815

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139655666

rs_2073303724

2 SubmittersRCV001131902 RCV001131903 RCV001131904 RCV001131906 RCV001131905 RCV006557041

NM_001267550.2(TTN):c.28462+11T>C

SNV
Germline

Chr2:178710624

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999596

rs_563062273

3 SubmittersRCV001130802 RCV001133760 RCV001133762 RCV001133759 RCV001133761 RCV002070525 RCV003235476

NM_001267550.2(TTN):c.22528+12C>T

SNV
Germline

Chr2:178722247

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000826

rs_756012779

3 SubmittersRCV001131182 RCV001134149 RCV001134150 RCV001134151 RCV001134152 RCV003769245 RCV004694826

NM_001267550.2(TTN):c.22240+14A>G

SNV
Germline

Chr2:178722645

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA761305061

rs_1288832655

2 SubmittersRCV001131306 RCV001131304 RCV001131305 RCV001134287 RCV001134288 RCV003769246

NM_001267550.2(TTN):c.19994-13C>T

SNV
Germline

Chr2:178727384

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001277

rs_775393005

2 SubmittersRCV001132976 RCV001132977 RCV001132978 RCV001136405 RCV001136406 RCV003769257

NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)

SNV
Germline

Chr2:178553056

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430245692

rs_1700022340

2 SubmittersRCV001170310 RCV003769836

NM_001267550.2(TTN):c.83487T>G (p.Asn27829Lys)

SNV
Germline

Chr2:178562645

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988914

rs_374322635

3 SubmittersRCV001170781 RCV002348592 RCV006455486

NM_001267550.2(TTN):c.72272A>G (p.Asp24091Gly)

SNV
Germline

Chr2:178573860

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990524

rs_749484938

2 SubmittersRCV001170339 RCV003142094

NM_001267550.2(TTN):c.69225T>A (p.Tyr23075Ter)

SNV
Germline

Chr2:178577110

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349669521

rs_2046607104

1 SubmittersRCV001170573

NM_001267550.2(TTN):c.63379C>T (p.Arg21127Cys)

SNV
Germline

Chr2:178588028

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992096

rs_751590336

3 SubmittersRCV001170816 RCV005405506 RCV004794494

NM_001267550.2(TTN):c.55616T>C (p.Val18539Ala)

SNV
Germline

Chr2:178601381

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1993424

rs_573082979

3 SubmittersRCV001170599 RCV003142096 RCV005405503

NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter)

SNV
Germline

Chr2:178605647

Likely pathogenic

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349562126

rs_1171413936

2 SubmittersRCV001170606 RCV005225256

NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)

SNV
Germline

Chr2:178720454

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000663

rs_374739582

4 SubmittersRCV001507603 RCV001171038

NM_001267550.2(TTN):c.22867G>A (p.Gly7623Arg)

SNV
Germline

Chr2:178721152

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA349518595

rs_2078297932

2 SubmittersRCV001171042 RCV005405508

NM_001267550.2(TTN):c.11327T>C (p.Phe3776Ser)

SNV
Germline

Chr2:178741906

Conflicting classifications of pathogenicity

Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002870

rs_774659393

2 SubmittersRCV001171052 RCV004538392

NM_001267550.2(TTN):c.9568G>T (p.Val3190Phe)

SNV
Germline

Chr2:178766516

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004289

rs_370856494

2 SubmittersRCV001171056 RCV003433078

NM_001267550.2(TTN):c.49345+1G>A

SNV
Germline

Chr2:178614051

Pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349605151

rs_2056846558

1 SubmittersRCV001170838

NM_001267550.2(TTN):c.33418+2T>A

SNV
Germline

Chr2:178680252

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA1998358

rs_779749654

3 SubmittersRCV001170396 RCV002558707 RCV002491482

NM_001267550.2(TTN):c.17740+7A>G

SNV
Germline

Chr2:178730918

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139657480

rs_2080364920

2 SubmittersRCV001170642 RCV002068046

NM_001267550.2(TTN):c.33055G>T (p.Glu11019Ter)

SNV
Germline

Chr2:178682736

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349541082

rs_1372770028

1 SubmittersRCV005236657

NM_001267550.2(TTN):c.41143G>A (p.Ala13715Thr)

SNV
Germline

Chr2:178636584

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA349661348

rs_1192068092

2 SubmittersRCV001195641

NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)

SNV
Germline

Chr2:178721089

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349518057

rs_1340940049

4 SubmittersRCV001309106 RCV002254955 RCV002290994

NM_001267550.2(TTN):c.2766C>T (p.Arg922=)

SNV
Germline

Chr2:178784079

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005743

rs_372617952

4 SubmittersRCV001201203 RCV002069297 RCV003142127 RCV002429857

NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)

SNV
Germline

Chr2:178530257

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60953232

rs_922408768

1 SubmittersRCV001224919

NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile)

SNV
Germline

Chr2:178531758

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985345

rs_776593972

2 SubmittersRCV001220263 RCV001561459

NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)

SNV
Germline

Chr2:178539442

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349431991

rs_1693309648

1 SubmittersRCV001220069

NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)

SNV
Germline

Chr2:178544237

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349455229

rs_775585263

2 SubmittersRCV001215239 RCV003132278

NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)

SNV
Germline

Chr2:178548664

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489114

rs_1698169393

1 SubmittersRCV001216208

NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)

SNV
Germline

Chr2:178557528

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349534526

rs_1701973330

2 SubmittersRCV001221721 RCV002356944

NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)

SNV
Germline

Chr2:178566761

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349597207

rs_1706021639

1 SubmittersRCV001219193

NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)

SNV
Germline

Chr2:178573187

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349644674

rs_879087983

4 SubmittersRCV001222785 RCV001544610 RCV004796377

NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)

SNV
Germline

Chr2:178579800

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423849

rs_2047280731

1 SubmittersRCV001216633

NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)

SNV
Germline

Chr2:178582377

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349429929

rs_2047976018

3 SubmittersRCV001218844 RCV004774316 RCV005626354

NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)

SNV
Germline

Chr2:178597920

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349522400

rs_2052181050

1 SubmittersRCV001218582

NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)

SNV
Germline

Chr2:178602036

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349543506

rs_2053599652

1 SubmittersRCV001223127

NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)

SNV
Germline

Chr2:178602285

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349544678

rs_2053658622

1 SubmittersRCV001222297

NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)

SNV
Germline

Chr2:178615446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349609324

rs_1312425985

4 SubmittersRCV001218180 RCV001531934 RCV004034060

NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)

SNV
Germline

Chr2:178532844

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA60956837

rs_967542291

8 SubmittersRCV001203246 RCV001780110 RCV004033565 RCV004764957 RCV006634930

NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)

SNV
Germline

Chr2:178532850

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413554

rs_749082693

1 SubmittersRCV001202771

NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)

SNV
Germline

Chr2:178547193

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349475129

rs_1697578690

1 SubmittersRCV001207099

NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)

SNV
Germline

Chr2:178564878

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349582284

rs_1705109191

1 SubmittersRCV001211645

NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)

SNV
Germline

Chr2:178565687

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588735

rs_759414143

1 SubmittersRCV001209932

NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)

SNV
Germline

Chr2:178566331

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593667

rs_773632027

1 SubmittersRCV001213824

NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)

SNV
Germline

Chr2:178566415

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349594225

rs_1705879851

2 SubmittersRCV001204380 RCV003163545

NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)

SNV
Germline

Chr2:178569395

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349614200

rs_1707280155

3 SubmittersRCV001208963 RCV002497717 RCV003314677

NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)

SNV
Germline

Chr2:178572221

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636371

rs_1708468046

1 SubmittersRCV001201651

NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)

SNV
Germline

Chr2:178588715

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349457946

rs_769345390

4 SubmittersRCV001205862 RCV001249243 RCV001568893 RCV005908985

NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)

SNV
Germline

Chr2:178599221

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Primary familial dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1993228

rs_745376275

10 SubmittersRCV001210866 RCV001542650 RCV001780121 RCV002484145 RCV003155372 RCV002436811

NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)

SNV
Germline

Chr2:178605177

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60980503

rs_72646813

2 SubmittersRCV001210222 RCV002283527

NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)

SNV
Germline

Chr2:178709580

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349590074

rs_375212459

1 SubmittersRCV001212606

NM_001267550.2(TTN):c.64672+1G>A

SNV
Germline

Chr2:178585071

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438515

rs_2048635392

1 SubmittersRCV001205435

NM_001267550.2(TTN):c.48312+2T>C

SNV
Germline

Chr2:178616477

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611321

rs_2057367803

1 SubmittersRCV001207200

NM_001267550.2(TTN):c.35713+1G>A

SNV
Germline

Chr2:178667441

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA349508881

rs_2066160245

2 SubmittersRCV001207009 RCV004587067

NM_001267550.2(TTN):c.27886+1G>T

SNV
Germline

Chr2:178711943

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA10575435

rs_2076721233

1 SubmittersRCV001210567

NM_001267550.2(TTN):c.9164-1G>A

SNV
Germline

Chr2:178768156

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349675766

rs_2090846146

1 SubmittersRCV001212791

NM_001267550.2(TTN):c.9163+5G>C

SNV
Germline

Chr2:178768668

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004438

rs_775448783

3 SubmittersRCV001211682 RCV001567047 RCV002375164

NM_001267550.2(TTN):c.4480+1G>A

SNV
Germline

Chr2:178777703

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005318

rs_766581255

2 SubmittersRCV001212333 RCV003142145

NM_001267550.2(TTN):c.3729+1G>A

SNV
Germline

Chr2:178779999

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2005494

rs_781562337

2 SubmittersRCV001213914 RCV003228803

NM_001267550.2(TTN):c.107377+1G>C

SNV
Germline

Chr2:178528273

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Centronuclear myopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Multiple Submitters
No Conflicts

CA60949774

rs_112188483

7 SubmittersRCV001221534 RCV001780146 RCV002504278 RCV005772104 RCV005863384

NM_001267550.2(TTN):c.68527+1G>C

SNV
Germline

Chr2:178577987

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991091

rs_766984722

3 SubmittersRCV001217740 RCV003127692 RCV004034044

NM_001267550.2(TTN):c.63794-1G>A

SNV
Germline

Chr2:178587418

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349449022

rs_2049262622

5 SubmittersRCV001219309 RCV001528909 RCV006347531

NM_001267550.2(TTN):c.58432+2T>C

SNV
Germline

Chr2:178593959

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Single Submitter

CA60971681

rs_796197320

3 SubmittersRCV001224450 RCV001528670

NM_001267550.2(TTN):c.53582-1G>A

SNV
Germline

Chr2:178605714

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349562711

rs_2054612323

1 SubmittersRCV001215882

NM_001267550.2(TTN):c.41329+1G>T

SNV
Germline

Chr2:178636397

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Single Submitter

CA61007613

rs_796238032

5 SubmittersRCV001223105 RCV001528243

NM_001267550.2(TTN):c.40723+1G>T

SNV
Germline

Chr2:178640540

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1996411

rs_371770198

3 SubmittersRCV001219054 RCV002379824 RCV001836972

NM_001267550.2(TTN):c.30599-1G>A

SNV
Germline

Chr2:178701204

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349567565

rs_1338491963

4 SubmittersRCV001221662 RCV001700989

NM_001267550.2(TTN):c.1536+1G>A

SNV
Germline

Chr2:178793403

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512365

rs_2093614668

1 SubmittersRCV001215211

NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg)

SNV
Germline

Chr2:178530377

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349406474

rs_1688567795

4 SubmittersRCV001236495 RCV003142203 RCV003994242

NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro)

SNV
Germline

Chr2:178530513

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349407031

rs_1688636055

2 SubmittersRCV001233323 RCV005405552

NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)

SNV
Germline

Chr2:178531577

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985321

rs_779484675

4 SubmittersRCV001227105 RCV002484238 RCV003142189 RCV005405549

NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)

SNV
Germline

Chr2:178531788

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349410810

rs_1202115268

3 SubmittersRCV001227083 RCV003294084 RCV006454721

NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu)

SNV
Germline

Chr2:178535288

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985900

rs_536357517

3 SubmittersRCV001225384 RCV002379855 RCV005909067

NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)

SNV
Germline

Chr2:178548289

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349486046

rs_1454572839

2 SubmittersRCV001237949 RCV003166478

NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)

SNV
Germline

Chr2:178553993

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349520848

rs_1700331549

1 SubmittersRCV001227948

NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)

SNV
Germline

Chr2:178556950

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349530865

rs_1701741963

3 SubmittersRCV001234811 RCV003238853

NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)

SNV
Germline

Chr2:178557410

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349533747

rs_1701925645

1 SubmittersRCV001225739

NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)

SNV
Germline

Chr2:178563310

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349571321

rs_1704361187

1 SubmittersRCV001229393

NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)

SNV
Germline

Chr2:178566254

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593163

rs_1705798888

1 SubmittersRCV001229831

NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)

SNV
Germline

Chr2:178577762

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349671438

rs_2046761831

1 SubmittersRCV001231434

NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)

SNV
Germline

Chr2:178582448

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349430085

rs_1229556495

1 SubmittersRCV001227908

NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)

SNV
Germline

Chr2:178589070

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349463759

rs_2049677875

2 SubmittersRCV001238868 RCV004764959

NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)

SNV
Germline

Chr2:178601739

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349542075

rs_1440093502

7 SubmittersRCV001232206 RCV001268635 RCV004033154 RCV004796382 RCV006557228

NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)

SNV
Germline

Chr2:178636135

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349658735

rs_2060408042

2 SubmittersRCV001232553 RCV005503041

NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter)

SNV
Germline

Chr2:178695908

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349565111

rs_794727040

1 SubmittersRCV001232726

NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter)

SNV
Germline

Chr2:178712456

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349452393

rs_2076800953

1 SubmittersRCV001229058

NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)

SNV
Germline

Chr2:178739537

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2002541

rs_775072385

6 SubmittersRCV001236195 RCV002224031 RCV002430010 RCV006255192

NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)

SNV
Germline

Chr2:178566220

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349592905

rs_1705781269

1 SubmittersRCV001244729

NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)

SNV
Germline

Chr2:178568975

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349612201

rs_1707088255

1 SubmittersRCV001239088

NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)

SNV
Germline

Chr2:178602445

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546308

rs_2053697356

1 SubmittersRCV001240120

NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)

SNV
Germline

Chr2:178617864

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349616689

rs_2057643696

1 SubmittersRCV001248162

NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter)

SNV
Germline

Chr2:178620891

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349632298

rs_2058162241

2 SubmittersRCV001242721 RCV006656004

NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter)

SNV
Germline

Chr2:178677705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349529580

rs_878921943

1 SubmittersRCV001242062

NM_001267550.2(TTN):c.66160+1G>T

SNV
Germline

Chr2:178582295

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349429748

rs_2047961752

1 SubmittersRCV001227084

NM_001267550.2(TTN):c.52706-1G>C

SNV
Germline

Chr2:178608082

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349571587

rs_2055351447

2 SubmittersRCV001238066 RCV005503048

NM_001267550.2(TTN):c.39380-1G>C

SNV
Germline

Chr2:178651750

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349457225

rs_2063018968

1 SubmittersRCV001227271

NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter)

SNV
Germline

Chr2:178541517

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349437369

rs_1694489284

1 SubmittersRCV001253073

NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)

SNV
Germline

Chr2:178576294

Likely pathogenic

Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349666227

rs_1710057805

2 SubmittersRCV001255597 RCV005225334

NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)

SNV
Germline

Chr2:178733239

Pathogenic/Likely pathogenic

Congenital titinopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349588167

rs_1190242728

2 SubmittersRCV001255974 RCV001343119

NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)

SNV
Germline

Chr2:178547234

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349475643

rs_1697595705

3 SubmittersRCV001256860 RCV001879963 RCV002366095

NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)

SNV
Germline

Chr2:178577603

Pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA349671081

rs_200717463

1 SubmittersRCV001256856

NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)

SNV
Germline

Chr2:178582566

Pathogenic

Dilated cardiomyopathy 1A

Criteria Provided
Single Submitter

CA349430477

rs_2048015439

1 SubmittersRCV001256859

NM_001267550.2(TTN):c.56831T>A (p.Leu18944Ter)

SNV
Germline

Chr2:178598879

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349526415

rs_2052528941

1 SubmittersRCV005400754

NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)

SNV
Germline

Chr2:178601358

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349539546

rs_2053403381

3 SubmittersRCV001256711 RCV003770331 RCV006656040

NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)

SNV
Germline

Chr2:178527292

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1984889

rs_372276487

4 SubmittersRCV001293128 RCV001799057 RCV003142229 RCV005029848

NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)

SNV
Germline

Chr2:178533075

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985588

rs_769311670

2 SubmittersRCV001293189 RCV001879974

NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly)

SNV
Germline

Chr2:178571664

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990193

rs_368071644

2 SubmittersRCV001293175 RCV003135894

NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)

SNV
Germline

Chr2:178717118

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000186

rs_550882549

4 SubmittersRCV001293145 RCV001664785 RCV003142230 RCV004545158

NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)

SNV
Unknown

Chr2:178590716

Likely pathogenic

Hypertrophic cardiomyopathy 9

Criteria Provided
Single Submitter

CA349477393

rs_2050024892

1 SubmittersRCV001262300

NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter)

SNV
Germline

Chr2:178608368

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349573255

rs_1160660090

2 SubmittersRCV001262867 RCV005432642

NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)

SNV
Germline

Chr2:178588588

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992142

rs_368868562

6 SubmittersRCV001264487 RCV001597263 RCV002339702 RCV001799059 RCV004734085

NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)

SNV
Germline

Chr2:178780016

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005498

rs_147020824

4 SubmittersRCV001264484 RCV001587303 RCV002451630

NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter)

SNV
Germline

Chr2:178543596

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349449180

rs_1695634838

1 SubmittersRCV001267664

NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)

SNV
Germline

Chr2:178653262

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349467474

rs_750990843

1 SubmittersRCV001267670

NM_001267550.2(TTN):c.39974-11T>G

SNV
Germline

Chr2:178649342

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
TTN-related myopathy
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60966163

rs_758597536

8 SubmittersRCV001268728 RCV001880170 RCV002491873 RCV003225966 RCV004538548 RCV004762042

NM_001267550.2(TTN):c.59206T>G (p.Ser19736Ala)

SNV
Germline

Chr2:178592913

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA349495072

rs_2050540072

2 SubmittersRCV001269084

NM_001267550.2(TTN):c.3785T>C (p.Ile1262Thr)

SNV
Germline

Chr2:178779407

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA2005468

rs_752505720

2 SubmittersRCV001280558

NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter)

SNV
Germline

Chr2:178581515

Likely pathogenic

Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Single Submitter

CA349428055

rs_2047743679

1 SubmittersRCV004799597

NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn)

SNV
Germline

Chr2:178664660

Conflicting classifications of pathogenicity

6 conditions
TTN-related disorder
not specified
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1997636

rs_140655598

4 SubmittersRCV002480931 RCV004538563 RCV005405563 RCV004799558

NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met)

SNV
Germline

Chr2:178669653

Conflicting classifications of pathogenicity

not specified
TTN-related disorder
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997826

rs_186992412

6 SubmittersRCV001289368 RCV004531054 RCV004799559 RCV005225348 RCV006450924

NM_001267550.2(TTN):c.28462+1G>T

SNV
Germline

Chr2:178710634

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349437626

rs_2076520917

3 SubmittersRCV001283788 RCV003135915 RCV003987824

NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)

SNV
Germline

Chr2:178563924

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349574885

rs_1704654934

2 SubmittersRCV001812451 RCV001871676

NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys)

SNV
Germline

Chr2:178602058

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993518

rs_199656264

5 SubmittersRCV001547643

NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)

SNV
Germline

Chr2:178665401

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997691

rs_761660130

4 SubmittersRCV001664797 RCV001812406

NM_001267550.2(TTN):c.76994T>G (p.Leu25665Arg)

SNV
Germline

Chr2:178569138

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989837

rs_188012906

3 SubmittersRCV001289393 RCV005628306

NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys)

SNV
Germline

Chr2:178592943

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA349495459

rs_1356102019

3 SubmittersRCV001288573 RCV002322179 RCV006650738

NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile)

SNV
Germline

Chr2:178625365

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995633

rs_778014249

3 SubmittersRCV001288117

NM_001267550.2(TTN):c.40559-8C>G

SNV
Germline

Chr2:178641323

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1139657467

rs_2061204822

2 SubmittersRCV001289374 RCV003770466

NM_001267550.2(TTN):c.6609C>G (p.Val2203=)

SNV
Germline

Chr2:178775102

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430300351

rs_2092059385

2 SubmittersRCV001288920 RCV001429443

NM_001267550.2(TTN):c.48160+1G>A

SNV
Germline

Chr2:178616728

Likely pathogenic

Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349611884

rs_779498825

2 SubmittersRCV001290265 RCV001527386 RCV006698373

NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter)

SNV
Germline

Chr2:178713370

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349462471

rs_1250796004

3 SubmittersRCV001291568 RCV001342747 RCV006257334

NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)

SNV
Germline

Chr2:178594472

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992943

rs_536645864

4 SubmittersRCV001293530 RCV001547706

NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)

SNV
Germline

Chr2:178604193

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993621

rs_574313741

5 SubmittersRCV001293531 RCV001560389

NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)

SNV
Germline

Chr2:178771352

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004705

rs_747894424

3 SubmittersRCV001293605 RCV001545864 RCV002411934

NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg)

SNV
Germline

Chr2:178531778

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349410779

rs_1185207035

2 SubmittersRCV001297420 RCV002411947

NM_001267550.2(TTN):c.7594+2T>A

SNV
Germline

Chr2:178773460

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349679755

rs_2091827779

1 SubmittersRCV001298531

NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter)

SNV
Germline

Chr2:178546674

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349470646

rs_2154146081

1 SubmittersRCV001594467

NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter)

SNV
Germline

Chr2:178564858

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349582138

rs_2154163535

1 SubmittersRCV001594448

NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter)

SNV
Germline

Chr2:178578638

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349673178

rs_2154174786

1 SubmittersRCV001594465

NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter)

SNV
Germline

Chr2:178613052

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349601548

rs_2154200779

1 SubmittersRCV001594464

NM_001267550.2(TTN):c.88329T>A (p.Pro29443=)

SNV
Germline

Chr2:178555130

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430246820

rs_1287677844

2 SubmittersRCV001311950 RCV002543584

NM_001267550.2(TTN):c.75832C>T (p.Arg25278Cys)

SNV
Germline

Chr2:178570300

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989996

rs_777445126

3 SubmittersRCV002340363 RCV005405892 RCV005635514

NM_001267550.2(TTN):c.61462G>A (p.Val20488Met)

SNV
Germline

Chr2:178590263

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992365

rs_77957535

2 SubmittersRCV001311242 RCV003150420

NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn)

SNV
Germline

Chr2:178533833

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60958946

rs_985229219

6 SubmittersRCV001320592 RCV001699532 RCV002395698 RCV003486977

NM_001267550.2(TTN):c.39818-1G>C

SNV
Germline

Chr2:178649895

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349448984

rs_2062662018

1 SubmittersRCV001325136

NM_001267550.2(TTN):c.32312-1G>C

SNV
Germline

Chr2:178685599

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349549702

rs_2070649864

1 SubmittersRCV001315476

NM_001267550.2(TTN):c.27886+3G>A

SNV
Germline

Chr2:178711941

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999707

rs_750753011

2 SubmittersRCV001325990 RCV001799065

NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter)

SNV
Germline

Chr2:178714487

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349471600

rs_2077159790

1 SubmittersRCV001314834

NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter)

SNV
Germline

Chr2:178722431

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526898

rs_2078556781

1 SubmittersRCV001317259

NM_001267550.2(TTN):c.22240+1G>A

SNV
Germline

Chr2:178722658

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349528110

rs_2078612090

1 SubmittersRCV001316674

NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)

SNV
Germline

Chr2:178724141

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA60974346

rs_576359448

4 SubmittersRCV001324566 RCV001573414 RCV002499636

NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter)

SNV
Germline

Chr2:178728243

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349552783

rs_746828415

1 SubmittersRCV001314486

NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)

SNV
Germline

Chr2:178775483

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349440148

rs_2092121151

2 SubmittersRCV001314360 RCV002366164

NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)

SNV
Germline

Chr2:178776984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2005250

rs_767755367

1 SubmittersRCV001320036

NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter)

SNV
Germline

Chr2:178777528

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349467044

rs_2092360420

1 SubmittersRCV001317732

NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)

SNV
Germline

Chr2:178591812

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60970180

rs_1039014549

4 SubmittersRCV001328330 RCV002447384 RCV003482364

NM_001267550.2(TTN):c.107224-1G>C

SNV
Germline

Chr2:178528428

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349401545

rs_112720067

2 SubmittersRCV001331661 RCV002546499

NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)

SNV
Germline

Chr2:178549802

Pathogenic/Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349495863

rs_1698600051

4 SubmittersRCV001331652 RCV002357169 RCV002546498 RCV004764963

NM_001267550.2(TTN):c.91564+2T>C

SNV
Germline

Chr2:178550965

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349500213

rs_1699208458

2 SubmittersRCV001330318 RCV002546381

NM_001267550.2(TTN):c.86822-2A>G

SNV
Unknown

Chr2:178558639

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349541127

rs_773710035

1 SubmittersRCV001330316

NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)

SNV
Germline

Chr2:178587957

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430264797

rs_2049398530

2 SubmittersRCV001329651 RCV003770821

NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)

SNV
Germline

Chr2:178719194

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2000485

rs_755202091

4 SubmittersRCV001331618 RCV003150422 RCV003317479

NM_001267550.2(TTN):c.10115-1G>C

SNV
Unknown

Chr2:178759173

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349673682

rs_2088245783

1 SubmittersRCV001330275

NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu)

SNV
Germline

Chr2:178532190

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985429

rs_754384143

2 SubmittersRCV001337245 RCV005405574

NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)

SNV
Germline

Chr2:178620880

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349632206

rs_2058161147

1 SubmittersRCV001342389

NM_001267550.2(TTN):c.45350-1G>C

SNV
Germline

Chr2:178621369

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349634982

rs_2058237051

1 SubmittersRCV001343567

NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)

SNV
Germline

Chr2:178622705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349638734

rs_2058478213

2 SubmittersRCV001347454 RCV003169699

NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)

SNV
Germline

Chr2:178634438

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655057

rs_2060169705

1 SubmittersRCV001343313

NM_001267550.2(TTN):c.33827-1G>A

SNV
Germline

Chr2:178678498

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532868

rs_2068604683

1 SubmittersRCV001346395

NM_001267550.2(TTN):c.30598+1G>C

SNV
Germline

Chr2:178701527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349567725

rs_2075001826

1 SubmittersRCV001350085

NM_001267550.2(TTN):c.21961+1G>C

SNV
Germline

Chr2:178723045

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349530027

rs_2078690809

1 SubmittersRCV001340763

NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)

SNV
Germline

Chr2:178740383

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610150

rs_2082282118

1 SubmittersRCV001341278

NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter)

SNV
Germline

Chr2:178781187

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349483371

rs_2092730732

1 SubmittersRCV001350100

NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter)

SNV
Germline

Chr2:178793451

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349512971

rs_1185562018

3 SubmittersRCV001349789 RCV004017821 RCV006279624

NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)

SNV
Germline

Chr2:178799575

Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349523261

rs_2154358498

2 SubmittersRCV001353360 RCV001576495

NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)

SNV
Germline

Chr2:178530781

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985200

rs_758094020

3 SubmittersRCV001361465 RCV002413857 RCV005405578

NM_001267550.2(TTN):c.46697-1G>T

SNV
Germline

Chr2:178618854

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349622741

rs_2154209955

1 SubmittersRCV001372306

NM_001267550.2(TTN):c.46696+1G>T

SNV
Germline

Chr2:178619620

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349622750

rs_1064796987

2 SubmittersRCV001360510 RCV004036767

NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)

SNV
Germline

Chr2:178619714

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349623238

rs_764654357

4 SubmittersRCV001370705 RCV002413886 RCV003237356 RCV006457066

NM_001267550.2(TTN):c.45349+1G>A

SNV
Germline

Chr2:178621474

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349635036

rs_2154211977

1 SubmittersRCV001373884

NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)

SNV
Germline

Chr2:178631298

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349647549

rs_2154220286

1 SubmittersRCV001371668

NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)

SNV
Germline

Chr2:178634777

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655913

rs_2154228367

1 SubmittersRCV001359059

NM_001267550.2(TTN):c.42024+1G>C

SNV
Germline

Chr2:178635164

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349656200

rs_2154228980

1 SubmittersRCV001368218

NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)

SNV
Germline

Chr2:178672653

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1997962

rs_766945794

1 SubmittersRCV001364756

NM_001267550.2(TTN):c.34786+1G>T

SNV
Germline

Chr2:178673632

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA60979323

rs_879010418

2 SubmittersRCV001373001 RCV002499765

NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter)

SNV
Germline

Chr2:178709820

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349592493

rs_2154294487

2 SubmittersRCV001372550 RCV006650772

NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)

SNV
Germline

Chr2:178715119

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349474970

rs_377125716

1 SubmittersRCV001370009

NM_001267550.2(TTN):c.25639+2T>G

SNV
Germline

Chr2:178717093

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2000183

rs_769452066

2 SubmittersRCV001360632 RCV002224078

NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter)

SNV
Germline

Chr2:178718116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349495318

rs_2154299355

1 SubmittersRCV001364316

NM_001267550.2(TTN):c.23098+1G>T

SNV
Germline

Chr2:178720920

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA349516212

rs_2154300949

2 SubmittersRCV001364829 RCV002499739

NM_001267550.2(TTN):c.21116-1G>A

SNV
Germline

Chr2:178724144

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2001073

rs_771575556

1 SubmittersRCV001362115

NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter)

SNV
Germline

Chr2:178728620

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349556451

rs_267599063

1 SubmittersRCV001366012

NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)

SNV
Germline

Chr2:178730566

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568088

rs_2154308240

1 SubmittersRCV001360664

NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter)

SNV
Germline

Chr2:178734500

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60981455

rs_755339616

1 SubmittersRCV001366202

NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter)

SNV
Germline

Chr2:178768049

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349675539

rs_2154341535

1 SubmittersRCV001372684

NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)

SNV
Germline

Chr2:178773606

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680262

rs_2091844239

1 SubmittersRCV001360589

NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)

SNV
Germline

Chr2:178780065

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349482336

rs_1227198694

2 SubmittersRCV003327511 RCV001366711

NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter)

SNV
Germline

Chr2:178782248

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349486198

rs_2154349662

1 SubmittersRCV001366295

NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)

SNV
Germline

Chr2:178715585

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000136

rs_561059250

4 SubmittersRCV001375615 RCV003136048 RCV003486980

NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter)

SNV
Somatic

Chr2:178562635

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349567228

rs_2154160857

1 SubmittersRCV001375657

NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter)

SNV
Somatic

Chr2:178576722

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349667743

rs_2154173235

1 SubmittersRCV001375658

NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)

SNV
Germline/somatic

Chr2:178739641

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349607261

rs_2154317682

2 SubmittersRCV001375661

NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)

SNV
Germline

Chr2:178527199

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349399090

rs_1278698690

1 SubmittersRCV001379287

NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)

SNV
Germline

Chr2:178530336

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349406340

rs_1285334952

3 SubmittersRCV001379866 RCV002469387

NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)

SNV
Germline

Chr2:178534928

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349419871

rs_376813674

2 SubmittersRCV001377487 RCV003235567

NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)

SNV
Germline

Chr2:178535407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349421297

rs_1559047711

2 SubmittersRCV001379823 RCV003237357

NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)

SNV
Germline

Chr2:178537597

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427847

rs_1490008675

1 SubmittersRCV001379979

NM_001267550.2(TTN):c.99289+1G>C

SNV
Germline

Chr2:178538539

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349430524

rs_2154139165

3 SubmittersRCV001379057 RCV002377563 RCV005645271

NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)

SNV
Germline

Chr2:178539132

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349431604

rs_1407053984

1 SubmittersRCV001377379

NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)

SNV
Germline

Chr2:178542917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349444239

rs_1695289576

1 SubmittersRCV001377999

NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)

SNV
Germline

Chr2:178543304

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349446108

rs_2154143423

4 SubmittersRCV001379887 RCV002377564 RCV002499786 RCV003319470

NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)

SNV
Germline

Chr2:178544357

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349456554

rs_2154144218

3 SubmittersRCV001378435 RCV003486981 RCV004037633

NM_001267550.2(TTN):c.95723-2A>C

SNV
Germline

Chr2:178544508

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349458535

rs_2154144335

2 SubmittersRCV001378230 RCV004037632

NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)

SNV
Germline

Chr2:178551875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504453

rs_2154150847

1 SubmittersRCV001378841

NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)

SNV
Germline

Chr2:178551990

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1987724

rs_773538148

1 SubmittersRCV001378376

NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)

SNV
Germline

Chr2:178552842

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349514024

rs_1699956677

1 SubmittersRCV001378904

NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)

SNV
Germline

Chr2:178553073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515583

rs_2154151737

1 SubmittersRCV001377194

NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)

SNV
Germline

Chr2:178553670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519194

rs_2154152175

1 SubmittersRCV001378386

NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)

SNV
Germline

Chr2:178561727

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349560198

rs_756176112

1 SubmittersRCV001376778

NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)

SNV
Germline

Chr2:178562161

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349563236

rs_1703920233

2 SubmittersRCV001378752 RCV005054368

NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)

SNV
Germline

Chr2:178565282

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349585766

rs_794729291

1 SubmittersRCV001378803

NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)

SNV
Germline

Chr2:178566250

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Single Submitter

CA349593133

rs_1373472758

2 SubmittersRCV001378796 RCV004728695

NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)

SNV
Germline

Chr2:178566859

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349598302

rs_1706063163

1 SubmittersRCV001376993

NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)

SNV
Germline

Chr2:178568869

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349611575

rs_2154167332

2 SubmittersRCV001376930 RCV004764964

NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)

SNV
Germline

Chr2:178569410

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614277

rs_55696153

1 SubmittersRCV001378499

NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)

SNV
Germline

Chr2:178569776

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349615774

rs_2154168035

2 SubmittersRCV001379572 RCV006352230

NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)

SNV
Germline

Chr2:178570984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628602

rs_770754919

1 SubmittersRCV001379815

NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)

SNV
Germline

Chr2:178572706

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349642203

rs_760487688

1 SubmittersRCV001379355

NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)

SNV
Germline

Chr2:178572847

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349642799

rs_373773552

1 SubmittersRCV001376769

NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)

SNV
Germline

Chr2:178573402

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645833

rs_1708937897

1 SubmittersRCV001377500

NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)

SNV
Germline

Chr2:178575196

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660118

rs_2154172066

1 SubmittersRCV001379826

NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)

SNV
Germline

Chr2:178576765

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349667954

rs_2154173285

1 SubmittersRCV001379193

NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)

SNV
Germline

Chr2:178577460

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349670967

rs_2154173767

1 SubmittersRCV001378859

NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)

SNV
Germline

Chr2:178583745

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349434186

rs_1575960580

2 SubmittersRCV001378335 RCV004528494

NM_001267550.2(TTN):c.64094-1G>C

SNV
Germline

Chr2:178586808

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349443997

rs_2154181635

1 SubmittersRCV001378893

NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)

SNV
Germline

Chr2:178591825

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349487989

rs_2154185221

2 SubmittersRCV001377915 RCV006251041

NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)

SNV
Germline

Chr2:178593755

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504772

rs_1195475569

1 SubmittersRCV001376887

NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)

SNV
Germline

Chr2:178595751

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349516469

rs_1418030810

3 SubmittersRCV001379705 RCV003148987

NM_001267550.2(TTN):c.57112-1G>C

SNV
Germline

Chr2:178598059

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523349

rs_2154190178

1 SubmittersRCV001379092

NM_001267550.2(TTN):c.57112-1G>A

SNV
Germline

Chr2:178598059

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349523353

rs_2154190178

2 SubmittersRCV001379635 RCV006709541

NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)

SNV
Germline

Chr2:178599812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349534970

rs_1391010387

2 SubmittersRCV001378563 RCV002438884

NM_001267550.2(TTN):c.56051-1G>A

SNV
Germline

Chr2:178599851

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349535223

rs_1385817640

3 SubmittersRCV001378097 RCV002493918 RCV004728694

NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)

SNV
Germline

Chr2:178601170

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349538176

rs_2154192691

1 SubmittersRCV001376743

NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)

SNV
Germline

Chr2:178604711

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349553522

rs_769624146

2 SubmittersRCV001379628 RCV005298827

NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)

SNV
Germline

Chr2:178605471

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349560468

rs_2054564830

2 SubmittersRCV001379048 RCV004764967

NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)

SNV
Germline

Chr2:178607482

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349566033

rs_571702144

4 SubmittersRCV001376964 RCV002051941 RCV002432058 RCV004764965

NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)

SNV
Germline

Chr2:178607641

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568655

rs_2154197059

1 SubmittersRCV001379147

NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)

SNV
Germline

Chr2:178609233

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349577455

rs_1167384081

1 SubmittersRCV001378879

NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)

SNV
Germline

Chr2:178609756

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1994149

rs_748956593

6 SubmittersRCV001378033 RCV002291754 RCV002432062 RCV004545824 RCV004764966

NM_001267550.2(TTN):c.50857+1G>A

SNV
Germline

Chr2:178611371

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349591689

rs_2154199718

1 SubmittersRCV001379669

NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)

SNV
Germline

Chr2:178612095

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349597116

rs_1433307898

1 SubmittersRCV001379677

NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)

SNV
Germline

Chr2:178612509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599777

rs_2154200433

1 SubmittersRCV001378994

NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)

SNV
Germline

Chr2:178612555

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600110

rs_2154200456

1 SubmittersRCV001377032

NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)

SNV
Germline

Chr2:178617198

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349613288

rs_2057499255

2 SubmittersRCV001379558 RCV003169940

NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)

SNV
Germline

Chr2:178618037

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349618035

rs_2154209202

5 SubmittersRCV001376746 RCV002282533 RCV003331139 RCV005503133 RCV006605340

NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)

SNV
Germline

Chr2:178579939

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349423953

rs_1403485272

5 SubmittersRCV001387316 RCV002357293 RCV004764968 RCV004720893

NM_001267550.2(TTN):c.107301C>T (p.Ser35767=)

SNV
Germline

Chr2:178528350

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430234551

rs_1558965303

4 SubmittersRCV001401533 RCV002420896 RCV005912685 RCV005635154

NM_001267550.2(TTN):c.94530A>G (p.Pro31510=)

SNV
Germline

Chr2:178546898

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60972659

rs_902954756

3 SubmittersRCV001396602 RCV003311986

NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)

SNV
Germline

Chr2:178548023

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987275

rs_765759269

3 SubmittersRCV001410756 RCV003136070 RCV003284309

NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)

SNV
Germline

Chr2:178620366

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430275322

rs_1394331445

3 SubmittersRCV001405418 RCV003136068 RCV006659873

NM_001267550.2(TTN):c.44815+7A>G

SNV
Germline

Chr2:178624458

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1995570

rs_758417150

2 SubmittersRCV001407817 RCV003150426

NM_001267550.2(TTN):c.43086+7C>G

SNV
Germline

Chr2:178633180

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA761290948

rs_1378945842

2 SubmittersRCV001416244 RCV005635157

NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)

SNV
Germline

Chr2:178714129

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999977

rs_747558822

3 SubmittersRCV001402328 RCV002292636

NM_001267550.2(TTN):c.16904-4G>A

SNV
Germline

Chr2:178731975

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001945

rs_778611530

2 SubmittersRCV001404155 RCV005635155

NM_001267550.2(TTN):c.98684-9T>C

SNV
Germline

Chr2:178539260

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986328

rs_767607825

2 SubmittersRCV001425528 RCV003486986

NM_001267550.2(TTN):c.95416+8T>C

SNV
Germline

Chr2:178545812

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986961

rs_373857496

3 SubmittersRCV001434003 RCV005642557 RCV006453684

NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)

SNV
Germline

Chr2:178559687

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430248043

rs_1459326742

3 SubmittersRCV001436481 RCV003136076 RCV005762302

NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)

SNV
Germline

Chr2:178568386

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430253299

rs_1243488306

2 SubmittersRCV001438474 RCV003136077

NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)

SNV
Germline

Chr2:178570790

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430255393

rs_1707914737

2 SubmittersRCV001434732 RCV003136075

NM_001267550.2(TTN):c.57848-5C>T

SNV
Germline

Chr2:178594651

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992977

rs_764245090

3 SubmittersRCV001440289 RCV003150430 RCV006352269

NM_001267550.2(TTN):c.42684G>A (p.Glu14228=)

SNV
Germline

Chr2:178633675

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA61004608

rs_975916529

3 SubmittersRCV001434366 RCV004038327 RCV006650827

NM_001267550.2(TTN):c.34787-5T>C

SNV
Germline

Chr2:178672708

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA538094225

rs_1488977812

2 SubmittersRCV001447048 RCV002466676

NM_001267550.2(TTN):c.296-5C>T

SNV
Germline

Chr2:178800687

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006345

rs_374923808

2 SubmittersRCV001430186 RCV002439000

NM_001267550.2(TTN):c.10115-1G>A

SNV
Germline

Chr2:178759173

Pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349673681

rs_2088245783

1 SubmittersRCV001449958

NM_001267550.2(TTN):c.104250T>C (p.His34750=)

SNV
Germline

Chr2:178532365

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985453

rs_745463889

3 SubmittersRCV001458726 RCV003136079 RCV004681194

NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)

SNV
Germline

Chr2:178536085

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60960621

rs_1036339690

3 SubmittersRCV001462560 RCV002384738 RCV003136082

NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)

SNV
Germline

Chr2:178546249

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987024

rs_776679937

3 SubmittersRCV003136084 RCV002368434 RCV001467919

NM_001267550.2(TTN):c.63794-5T>A

SNV
Germline

Chr2:178587422

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA538435518

rs_767131398

3 SubmittersRCV001450379 RCV001806186 RCV004681186

NM_001267550.2(TTN):c.53882-5T>G

SNV
Germline

Chr2:178605300

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430270019

rs_1369648014

2 SubmittersRCV001461732 RCV003136081

NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)

SNV
Germline

Chr2:178629441

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995681

rs_770767998

3 SubmittersRCV001460507 RCV004774449 RCV003298799

NM_001267550.2(TTN):c.40281A>G (p.Glu13427=)

SNV
Germline

Chr2:178646501

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430101607

rs_2154244709

2 SubmittersRCV001457026 RCV005628912

NM_001267550.2(TTN):c.13839G>A (p.Val4613=)

SNV
Germline

Chr2:178739394

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA430295380

rs_1307850717

2 SubmittersRCV001466677 RCV001799088

NM_001267550.2(TTN):c.74262A>G (p.Val24754=)

SNV
Germline

Chr2:178571870

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990220

rs_745865847

3 SubmittersRCV001489890 RCV002334519 RCV003136088

NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)

SNV
Germline

Chr2:178597641

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430095222

rs_2052069695

2 SubmittersRCV001485773 RCV003136087

NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)

SNV
Germline

Chr2:178636738

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996328

rs_369178648

4 SubmittersRCV001490443 RCV003136089 RCV002384807

NM_001267550.2(TTN):c.102206A>G (p.Gln34069Arg)

SNV
Germline

Chr2:178534409

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985791

rs_780466011

3 SubmittersRCV001508096 RCV002388566 RCV005628317

NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln)

SNV
Germline

Chr2:178535507

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985928

rs_576025689

3 SubmittersRCV001508098 RCV001865934 RCV003486993

NM_001267550.2(TTN):c.94932A>C (p.Glu31644Asp)

SNV
Germline

Chr2:178546399

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349468685

rs_1281349835

5 SubmittersRCV001507581 RCV003486992

NM_001267550.2(TTN):c.87292G>A (p.Glu29098Lys)

SNV
Germline

Chr2:178558062

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988337

rs_369063299

2 SubmittersRCV001508464 RCV003486994

NM_001267550.2(TTN):c.55341G>A (p.Pro18447=)

SNV
Germline

Chr2:178601749

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993471

rs_779464399

3 SubmittersRCV001508472 RCV002439205

NM_001267550.2(TTN):c.46415G>C (p.Arg15472Thr)

SNV
Germline

Chr2:178620002

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349626729

rs_2058028450

3 SubmittersRCV001509191 RCV003150439 RCV004533915

NM_001267550.2(TTN):c.33743-14T>G

SNV
Germline

Chr2:178678844

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2499215471

rs_2154269351

2 SubmittersRCV001508119 RCV002564232

NM_001267550.2(TTN):c.26482+1G>C

SNV
Germline

Chr2:178714291

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349469020

rs_1440418037

5 SubmittersRCV001507601 RCV002567973

NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe)

SNV
Germline

Chr2:178722087

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000805

rs_754972548

4 SubmittersRCV001507604

NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter)

SNV
Germline

Chr2:178728672

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349556809

rs_2154306627

3 SubmittersRCV001508478 RCV002564248

NM_001267550.2(TTN):c.17747T>C (p.Ile5916Thr)

SNV
Germline

Chr2:178730786

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349569890

rs_1474601616

2 SubmittersRCV001508480 RCV006650897

NM_001267550.2(TTN):c.25A>T (p.Thr9Ser)

SNV
Germline

Chr2:178804618

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349533884

rs_1298028827

2 SubmittersRCV001508123

NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter)

SNV
Germline

Chr2:178611836

Likely pathogenic

Cerebral palsy

Criteria Provided
Single Submitter

CA349595844

rs_2154199961

1 SubmittersRCV001796574

NM_001267550.2(TTN):c.98990-1G>T

SNV
Germline

Chr2:178538840

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA60964217

rs_796111471

4 SubmittersRCV001529631

NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter)

SNV
Germline

Chr2:178548779

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349490259

rs_2154147680

3 SubmittersRCV001528553

NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter)

SNV
Germline

Chr2:178551748

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA60977137

rs_796635140

2 SubmittersRCV001529828

NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)

SNV
Germline

Chr2:178553691

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349519330

rs_200503016

7 SubmittersRCV001530133 RCV005225415 RCV005286489

NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)

SNV
Germline

Chr2:178565972

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989384

rs_376363284

10 SubmittersRCV001528932 RCV002241369 RCV002343711

NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter)

SNV
Germline

Chr2:178567114

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349600182

rs_2154166071

2 SubmittersRCV001529944

NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)

SNV
Germline

Chr2:178568680

Pathogenic

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349610436

rs_748619096

5 SubmittersRCV001529959 RCV006650911

NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)

SNV
Germline

Chr2:178583793

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991712

rs_375830234

9 SubmittersRCV001528890 RCV002476845 RCV002359153

NM_001267550.2(TTN):c.64672+2T>C

SNV
Germline

Chr2:178585070

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438511

rs_2154180290

4 SubmittersRCV001528741 RCV003771635

NM_001267550.2(TTN):c.63793+1G>A

SNV
Germline

Chr2:178587515

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349449118

rs_2154182296

4 SubmittersRCV001528621 RCV003771634 RCV006352340

NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter)

SNV
Germline

Chr2:178597574

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349519869

rs_750947988

2 SubmittersRCV001528763

NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)

SNV
Germline

Chr2:178597704

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349521123

rs_1192054216

3 SubmittersRCV001529306 RCV002568874

NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)

SNV
Germline

Chr2:178614134

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349605708

rs_376188859

6 SubmittersRCV001529889

NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter)

SNV
Germline

Chr2:178617999

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349617735

rs_2057661952

2 SubmittersRCV001529878

NM_001267550.2(TTN):c.7855+1G>T

SNV
Germline

Chr2:178773108

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA61005907

rs_746566745

3 SubmittersRCV001528417 RCV005225413

NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)

SNV
Germline

Chr2:178634546

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1996118

rs_745926057

8 SubmittersRCV001531939 RCV006261763 RCV001882587 RCV003150441

NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)

SNV
Germline

Chr2:178534263

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349417825

rs_1212204584

5 SubmittersRCV001537858 RCV002388580 RCV002568931 RCV006279687

NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)

SNV
Germline

Chr2:178534451

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985801

rs_752582515

3 SubmittersRCV001546027 RCV002282561

NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg)

SNV
Germline

Chr2:178539680

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986382

rs_373396567

4 SubmittersRCV001546901 RCV002368565

NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile)

SNV
Germline

Chr2:178558091

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988341

rs_565333965

4 SubmittersRCV001544808 RCV002359161 RCV005408949

NM_001267550.2(TTN):c.20842G>A (p.Ala6948Thr)

SNV
Germline

Chr2:178724533

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001131

rs_147210608

2 SubmittersRCV001545143

NM_001267550.2(TTN):c.1088C>T (p.Thr363Met)

SNV
Germline

Chr2:178795079

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006147

rs_199590524

4 SubmittersRCV001548498 RCV004690114

NM_001267550.2(TTN):c.60542T>C (p.Ile20181Thr)

SNV
Unknown

Chr2:178591183

Likely pathogenic

Tip-toe gait

Criteria Provided
Single Submitter

CA349484075

rs_2154184836

1 SubmittersRCV001548776

NM_001267550.2(TTN):c.97399G>A (p.Gly32467Arg)

SNV
Unknown

Chr2:178542357

Likely pathogenic

Tip-toe gait

Criteria Provided
Single Submitter

CA349439827

rs_2154142487

1 SubmittersRCV001548777

NM_001267550.2(TTN):c.95843T>C (p.Met31948Thr)

SNV
Germline

Chr2:178544386

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986865

rs_377603482

3 SubmittersRCV001551152 RCV002377916

NM_001267550.2(TTN):c.92438T>C (p.Ile30813Thr)

SNV
Germline

Chr2:178549188

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987445

rs_768897840

2 SubmittersRCV001550376

NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)

SNV
Germline

Chr2:178664487

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349500017

rs_1384922524

4 SubmittersRCV001882629 RCV002305615 RCV004542003 RCV005057506

NM_001267550.2(TTN):c.5147G>A (p.Arg1716His)

SNV
Germline

Chr2:178776717

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005214

rs_771659260

2 SubmittersRCV001553403

NM_001267550.2(TTN):c.93908T>C (p.Val31303Ala)

SNV
Germline

Chr2:178547718

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA349479696

rs_1697801738

2 SubmittersRCV001558861

NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg)

SNV
Germline

Chr2:178558548

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988409

rs_368921501

3 SubmittersRCV001558658 RCV002359175

NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu)

SNV
Germline

Chr2:178566267

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989424

rs_532706350

4 SubmittersRCV001556038 RCV002334600 RCV005408958

NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)

SNV
Germline

Chr2:178575301

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1990718

rs_373765469

6 SubmittersRCV001555977 RCV002329671 RCV002568993 RCV004801037

NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)

SNV
Germline

Chr2:178587943

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992086

rs_373169150

6 SubmittersRCV001558205 RCV004734234

NM_001267550.2(TTN):c.42848G>A (p.Arg14283His)

SNV
Germline

Chr2:178633511

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996008

rs_767899169

3 SubmittersRCV001557822 RCV002405243

NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys)

SNV
Germline

Chr2:178738334

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002465

rs_749584249

3 SubmittersRCV001555227 RCV002386452

NM_133379.5(TTN):c.13712C>T (p.Pro4571Leu)

SNV
Germline

Chr2:178748688

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2003361

rs_369566893

2 SubmittersRCV001555382

NM_133379.5(TTN):c.10843C>T (p.Arg3615Trp)

SNV
Germline

Chr2:178751557

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2003836

rs_148722376

2 SubmittersRCV001557587

NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)

SNV
Germline

Chr2:178774293

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004930

rs_760633130

3 SubmittersRCV001557008 RCV002368573

NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)

SNV
Germline

Chr2:178530266

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985126

rs_371022420

6 SubmittersRCV001561125 RCV001806240 RCV002421196 RCV004536186

NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp)

SNV
Germline

Chr2:178533006

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985577

rs_753957126

3 SubmittersRCV001560170 RCV002388594

NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile)

SNV
Germline

Chr2:178602365

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993544

rs_573136400

4 SubmittersRCV001563438

NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr)

SNV
Germline

Chr2:178621132

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995415

rs_372872095

2 SubmittersRCV001560187

NM_001267550.2(TTN):c.101504G>A (p.Arg33835His)

SNV
Germline

Chr2:178535111

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985875

rs_373854384

2 SubmittersRCV001566511

NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)

SNV
Germline

Chr2:178547766

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987237

rs_374887049

5 SubmittersRCV001567968 RCV002266003 RCV002368588

NM_001267550.2(TTN):c.85208G>C (p.Arg28403Thr)

SNV
Germline

Chr2:178560924

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988683

rs_750869245

2 SubmittersRCV001565451

NM_001267550.2(TTN):c.79315C>T (p.Arg26439Cys)

SNV
Germline

Chr2:178566817

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989493

rs_372968732

3 SubmittersRCV001566153 RCV005405656

NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu)

SNV
Germline

Chr2:178571754

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990205

rs_766741890

5 SubmittersRCV001565496 RCV002334609

NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg)

SNV
Germline

Chr2:178575570

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990765

rs_775589244

2 SubmittersRCV001565624

NM_001267550.2(TTN):c.43392G>A (p.Met14464Ile)

SNV
Germline

Chr2:178632614

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1995878

rs_370601384

2 SubmittersRCV001565731 RCV005023196

NM_001267550.2(TTN):c.40634-1G>T

SNV
Germline

Chr2:178640631

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349664060

rs_749062863

1 SubmittersRCV001564119

NM_001267550.2(TTN):c.29999T>C (p.Leu10000Pro)

SNV
Germline

Chr2:178704371

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1999252

rs_768379279

4 SubmittersRCV001566587 RCV003486995 RCV005405658

NM_001267550.2(TTN):c.85096G>A (p.Val28366Ile)

SNV
Germline

Chr2:178561036

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988693

rs_367800789

2 SubmittersRCV002359184 RCV001571129

NM_001267550.2(TTN):c.70039G>C (p.Asp23347His)

SNV
Germline

Chr2:178576093

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990847

rs_371752797

2 SubmittersRCV002329679 RCV001571145

NM_001267550.2(TTN):c.15497-11T>G

SNV
Germline

Chr2:178733903

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002207

rs_749940464

2 SubmittersRCV001568956 RCV002072191

NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly)

SNV
Germline

Chr2:178776556

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005199

rs_780733773

3 SubmittersRCV001572117 RCV003514509

NM_001267550.2(TTN):c.4463C>T (p.Thr1488Met)

SNV
Germline

Chr2:178777721

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005322

rs_111282958

2 SubmittersRCV001570425

NM_001267550.2(TTN):c.87550G>A (p.Val29184Met)

SNV
Germline

Chr2:178557804

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60981703

rs_910283551

4 SubmittersRCV001572805 RCV005405663

NM_001267550.2(TTN):c.48313-1G>A

SNV
Germline

Chr2:178615789

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349611253

rs_2154207046

4 SubmittersRCV001573658 RCV003771744

NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys)

SNV
Germline

Chr2:178633975

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1996061

rs_575813993

4 SubmittersRCV001573305 RCV002501928 RCV005405664

NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)

SNV
Germline

Chr2:178532619

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985505

rs_201240519

3 SubmittersRCV001577035 RCV001732214

NM_001267550.2(TTN):c.82648G>A (p.Ala27550Thr)

SNV
Germline

Chr2:178563484

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989033

rs_778350547

3 SubmittersRCV001575827 RCV006690878

NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu)

SNV
Germline

Chr2:178564288

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989147

rs_761201021

2 SubmittersRCV001577886

NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)

SNV
Germline

Chr2:178633512

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1996009

rs_199684560

6 SubmittersRCV001574322 RCV005405665

NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala)

SNV
Germline

Chr2:178634398

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996092

rs_370793851

3 SubmittersRCV001574822 RCV001799106

NM_001267550.2(TTN):c.14518A>C (p.Asn4840His)

SNV
Germline

Chr2:178735928

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA2002385

rs_199997460

3 SubmittersRCV001576069 RCV005023204

NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser)

SNV
Germline

Chr2:178588900

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992178

rs_769163040

2 SubmittersRCV001581400

NM_001267550.2(TTN):c.28354G>A (p.Ala9452Thr)

SNV
Germline

Chr2:178710743

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999609

rs_527663092

2 SubmittersRCV001583056

NM_001267550.2(TTN):c.45248G>A (p.Arg15083Gln)

SNV
Germline

Chr2:178621576

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995473

rs_191551032

2 SubmittersRCV001586648

NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)

SNV
Germline

Chr2:178632318

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349649946

rs_2154220622

2 SubmittersRCV001591562 RCV003771774

NM_001267550.2(TTN):c.65850G>A (p.Lys21950=)

SNV
Germline

Chr2:178582953

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1991638

rs_757863803

3 SubmittersRCV001593557 RCV003771784

NM_001267550.2(TTN):c.70950C>G (p.Asn23650Lys)

SNV
Germline

Chr2:178575182

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA61002344

rs_377185608

2 SubmittersRCV001585279

NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu)

SNV
Germline

Chr2:178659025

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349484813

rs_1302865780

2 SubmittersRCV002227528 RCV001593624

NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)

SNV
Germline

Chr2:178534262

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1985765

rs_551905996

7 SubmittersRCV001587777 RCV002388617 RCV004528524 RCV005405669

NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His)

SNV
Germline

Chr2:178548184

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987299

rs_373131310

3 SubmittersRCV001580916 RCV002370236

NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg)

SNV
Germline

Chr2:178614937

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994766

rs_148549746

3 SubmittersRCV001587021

NM_001267550.2(TTN):c.95462A>G (p.Lys31821Arg)

SNV
Germline

Chr2:178545648

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986946

rs_372388579

3 SubmittersRCV001590078 RCV004039514

NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)

SNV
Germline

Chr2:178575804

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1990802

rs_762529671

4 SubmittersRCV001590165 RCV002329694 RCV005057534

NM_001267550.2(TTN):c.4639G>A (p.Val1547Met)

SNV
Germline

Chr2:178777426

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005302

rs_750678272

3 SubmittersRCV001592194 RCV003514511

NM_001267550.2(TTN):c.91772G>A (p.Arg30591Gln)

SNV
Germline

Chr2:178550066

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1987567

rs_752576185

4 SubmittersRCV001592379 RCV001799109 RCV005395088 RCV005405670

NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile)

SNV
Germline

Chr2:178571719

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990198

rs_371306826

5 SubmittersRCV001594152 RCV002334629

NM_001267550.2(TTN):c.48844G>A (p.Val16282Ile)

SNV
Germline

Chr2:178614670

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994736

rs_776265864

2 SubmittersRCV001588369

NM_001267550.2(TTN):c.52102+1G>A

SNV
Germline

Chr2:178609207

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349577148

rs_1202062988

3 SubmittersRCV001588658 RCV005772212 RCV006699395

NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala)

SNV
Germline

Chr2:178569394

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989865

rs_371711135

2 SubmittersRCV001596635 RCV002334633

NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter)

SNV
Germline

Chr2:178548749

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349489967

rs_2154147664

1 SubmittersRCV001614466

NM_001267550.2(TTN):c.59927-11T>A

SNV
Germline

Chr2:178591903

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992572

rs_555554134

3 SubmittersRCV001665174 RCV002073042 RCV005432772

NM_001267550.2(TTN):c.70885A>G (p.Met23629Val)

SNV
Germline

Chr2:178575247

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA61002417

rs_988918025

3 SubmittersRCV001665210 RCV005405695

NM_001267550.2(TTN):c.58747C>G (p.Pro19583Ala)

SNV
Germline

Chr2:178593461

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992784

rs_758600822

3 SubmittersRCV001658843 RCV005405698

NM_001267550.2(TTN):c.65864-7C>T

SNV
Germline

Chr2:178582599

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430090294

rs_1416710271

2 SubmittersRCV001663406 RCV005213554

NM_001267550.2(TTN):c.59626+1G>A

SNV
Germline

Chr2:178592378

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349492185

rs_2154185605

2 SubmittersRCV001699842

NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter)

SNV
Germline

Chr2:178533483

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349415061

rs_2154135182

2 SubmittersRCV001700842

NM_001267550.2(TTN):c.9381C>A (p.Tyr3127Ter)

SNV
Germline

Chr2:178767849

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349675287

rs_2154341420

2 SubmittersRCV001699641

NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)

SNV
Germline

Chr2:178561608

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559569

rs_2154159874

3 SubmittersRCV001699960 RCV003771850

NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)

SNV
Germline

Chr2:178559492

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542483

rs_794729298

4 SubmittersRCV001700868 RCV001866265

NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)

SNV
Germline

Chr2:178641271

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349664288

rs_2154238618

3 SubmittersRCV001699668

NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter)

SNV
Germline

Chr2:178776655

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349455073

rs_2154346241

3 SubmittersRCV001699975

NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)

SNV
Germline

Chr2:178607884

Pathogenic/Likely pathogenic

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349569837

rs_2154197219

7 SubmittersRCV001699753 RCV001732226 RCV002539695 RCV004774461 RCV005868285

NM_001267550.2(TTN):c.102510G>A (p.Trp34170Ter)

SNV
Germline

Chr2:178534105

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA349417375

rs_1559033550

2 SubmittersRCV001700624

NM_001267550.2(TTN):c.66463+1G>T

SNV
Germline

Chr2:178581905

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349429082

rs_1340087855

3 SubmittersRCV001699885

NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)

SNV
Germline

Chr2:178613239

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1994566

rs_779336886

7 SubmittersRCV001700579 RCV002425026 RCV005626463

NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)

SNV
Germline

Chr2:178563877

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349574571

rs_2154161716

3 SubmittersRCV001702172 RCV003771860

NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter)

SNV
Germline

Chr2:178575132

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA61002242

rs_865930770

2 SubmittersRCV001702178

NM_001267550.2(TTN):c.14722G>T (p.Glu4908Ter)

SNV
Germline

Chr2:178735724

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005409832

NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)

SNV
Unknown

Chr2:178536157

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349425351

rs_1489832770

1 SubmittersRCV001724789

NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter)

SNV
Germline

Chr2:178558189

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349538127

rs_756211633

4 SubmittersRCV001730400 RCV005225458

NM_001267550.2(TTN):c.60124C>T (p.Gln20042Ter)

SNV
Germline

Chr2:178591695

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349487075

rs_2154185146

3 SubmittersRCV001730411 RCV006557627

NM_001267550.2(TTN):c.40409-1G>A

SNV
Germline

Chr2:178644617

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349438465

rs_1285884266

4 SubmittersRCV001732309 RCV002032713 RCV005414280

NM_001267550.2(TTN):c.19715-1G>A

SNV
Germline

Chr2:178727864

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2001346

rs_767658044

2 SubmittersRCV001861039 RCV005237957

NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)

SNV
Germline

Chr2:178543265

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986722

rs_752066259

2 SubmittersRCV001756231 RCV002361013

NM_001267550.2(TTN):c.4227A>G (p.Ser1409=)

SNV
Germline

Chr2:178777957

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430282291

rs_2154346890

2 SubmittersRCV001757871 RCV002324175

NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)

SNV
Germline

Chr2:178541323

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986497

rs_373959972

5 SubmittersRCV001757987 RCV002488521 RCV002361014 RCV005405740

NM_001267550.2(TTN):c.5381T>C (p.Val1794Ala)

SNV
Germline

Chr2:178776483

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005188

rs_774766261

3 SubmittersRCV001758299 RCV001799122

NM_001267550.2(TTN):c.82574C>T (p.Thr27525Met)

SNV
Germline

Chr2:178563558

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349572819

rs_1321989289

2 SubmittersRCV001760597 RCV002343823

NM_001267550.2(TTN):c.42153A>C (p.Glu14051Asp)

SNV
Germline

Chr2:178634628

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1996129

rs_754144189

2 SubmittersRCV001774142 RCV005405742

NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)

SNV
Germline

Chr2:178548458

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430243649

rs_1202181464

3 SubmittersRCV001766892 RCV002361021 RCV003771948

NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)

SNV
Germline

Chr2:178547573

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987208

rs_777229309

3 SubmittersRCV001760791 RCV002077189 RCV002361025

NM_001267550.2(TTN):c.99115C>G (p.Gln33039Glu)

SNV
Germline

Chr2:178538714

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986255

rs_775875875

3 SubmittersRCV001765600 RCV002370286 RCV005419202

NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu)

SNV
Germline

Chr2:178568154

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989680

rs_771646684

3 SubmittersRCV001758743 RCV002334674

NM_001267550.2(TTN):c.7553T>C (p.Ile2518Thr)

SNV
Germline

Chr2:178773503

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349679901

rs_1319910280

2 SubmittersRCV001763775 RCV003150458

NM_001267550.2(TTN):c.24226+1G>A

SNV
Germline

Chr2:178719163

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349500633

rs_2154299944

2 SubmittersRCV001763939 RCV006557682

NM_001267550.2(TTN):c.101578G>A (p.Val33860Ile)

SNV
Germline

Chr2:178535037

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985863

rs_141082389

2 SubmittersRCV001772965 RCV006650932

NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)

SNV
Germline

Chr2:178773367

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61006186

rs_372407708

3 SubmittersRCV001779446 RCV002386557 RCV003136146

NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)

SNV
Germline

Chr2:178607158

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993809

rs_374563054

3 SubmittersRCV001779447 RCV002425071 RCV003136147

NM_001267550.2(TTN):c.36119-1G>C

SNV
Germline

Chr2:178664738

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349501512

rs_1239720687

2 SubmittersRCV002541106 RCV005237984

NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)

SNV
Germline

Chr2:178530455

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA349406856

rs_2154132755

3 SubmittersRCV001785099 RCV004527432 RCV005922458

NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)

SNV
Germline

Chr2:178534973

Likely pathogenic

Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349420084

rs_2154136345

2 SubmittersRCV001783935 RCV002482309

NM_001267550.2(TTN):c.53728G>T (p.Glu17910Ter)

SNV
Germline

Chr2:178605567

Likely pathogenic

Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349561348

rs_966575531

2 SubmittersRCV001783938 RCV005397017

NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)

SNV
Germline

Chr2:178543553

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349448771

rs_1009407656

2 SubmittersRCV001783953 RCV003772158

NM_001267550.2(TTN):c.65333G>A (p.Trp21778Ter)

SNV
Germline

Chr2:178583849

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349434407

rs_1485499271

1 SubmittersRCV001783955

NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)

SNV
Germline

Chr2:178575631

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349662858

rs_1709809170

3 SubmittersRCV001783966 RCV003772159 RCV005860259

NM_001267550.2(TTN):c.100171+1G>A

SNV
Germline

Chr2:178536937

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349426611

rs_1691855470

2 SubmittersRCV001783968 RCV006557719

NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter)

SNV
Germline

Chr2:178601011

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349536839

rs_2154192598

3 SubmittersRCV001783976 RCV002440876 RCV006557720

NM_001267550.2(TTN):c.70810C>T (p.Gln23604Ter)

SNV
Germline

Chr2:178575322

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349661045

rs_747651345

1 SubmittersRCV004508627

NM_001267550.2(TTN):c.106945G>T (p.Glu35649Ter)

SNV
Germline

Chr2:178528806

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349402510

rs_2154131346

1 SubmittersRCV001783978

NM_001267550.2(TTN):c.3103T>G (p.Ser1035Ala)

SNV
Germline

Chr2:178782600

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005636

rs_762133521

2 SubmittersRCV001787003 RCV002440877

NM_001267550.2(TTN):c.2775+1G>T

SNV
Germline

Chr2:178784069

Likely pathogenic

Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60982410

rs_1057346353

3 SubmittersRCV001787308 RCV001799128 RCV002541257

NM_001267550.2(TTN):c.40558+1G>T

SNV
Germline

Chr2:178642236

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349664588

rs_368219776

3 SubmittersRCV001787584 RCV003299002 RCV006458669

NM_001267550.2(TTN):c.80146A>T (p.Lys26716Ter)

SNV
Germline

Chr2:178565986

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349590882

rs_902372912

1 SubmittersRCV001787633

NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile)

SNV
Germline

Chr2:178741249

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2002779

rs_749320093

4 SubmittersRCV001797392 RCV002482320 RCV004690132

NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)

SNV
Germline

Chr2:178609379

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349579119

rs_2154198430

3 SubmittersRCV001797950 RCV005628323 RCV006557740

NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr)

SNV
Germline

Chr2:178753153

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA2003940

rs_758073208

4 SubmittersRCV001799149 RCV002359258 RCV002468313 RCV002503287

NM_001267550.2(TTN):c.14194C>T (p.Gln4732Ter)

SNV
Germline

Chr2:178738259

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349602662

rs_2081878770

1 SubmittersRCV001799157

NM_001267550.2(TTN):c.33994+9A>C

SNV
Germline

Chr2:178678116

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2573051797

rs_2154268922

2 SubmittersRCV001799182 RCV002077229

NM_001267550.2(TTN):c.3462C>G (p.Tyr1154Ter)

SNV
Germline

Chr2:178781182

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349483349

rs_2154348959

1 SubmittersRCV001799188

NM_001267550.2(TTN):c.45839C>T (p.Ser15280Phe)

SNV
Germline

Chr2:178620771

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995359

rs_763279178

4 SubmittersRCV001799199 RCV003434318 RCV005405755

NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter)

SNV
Germline

Chr2:178618316

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349619539

rs_2154209488

2 SubmittersRCV001799201 RCV006557744

NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys)

SNV
Germline

Chr2:178592472

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349492931

rs_1232069163

2 SubmittersRCV001799211 RCV002449427

NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)

SNV
Germline

Chr2:178575712

Likely pathogenic

Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349663029

rs_2154172475

2 SubmittersRCV001799229 RCV005405756

NM_001267550.2(TTN):c.6855A>C (p.Glu2285Asp)

SNV
Germline

Chr2:178774409

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA349681655

rs_2091955390

2 SubmittersRCV001799235 RCV005405757

NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)

SNV
Germline

Chr2:178572193

Pathogenic/Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349636306

rs_2154169928

6 SubmittersRCV001799236 RCV001885231 RCV002334699 RCV005225503 RCV005412277

NM_001267550.2(TTN):c.76031G>A (p.Arg25344Gln)

SNV
Germline

Chr2:178570101

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989962

rs_556179271

2 SubmittersRCV001799240 RCV003136163

NM_001267550.2(TTN):c.86152G>T (p.Gly28718Ter)

SNV
Germline

Chr2:178559980

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349546209

rs_2154158315

1 SubmittersRCV001799255

NM_001267550.2(TTN):c.94711G>A (p.Val31571Met)

SNV
Germline

Chr2:178546717

Conflicting classifications of pathogenicity

Cardiomyopathy
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60972536

rs_140081451

4 SubmittersRCV001799263 RCV002478030 RCV005405758 RCV004720940

NM_001267550.2(TTN):c.94910C>T (p.Ala31637Val)

SNV
Germline

Chr2:178546421

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA349468883

rs_1384723170

3 SubmittersRCV001799264 RCV002361057 RCV005397021

NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)

SNV
Germline

Chr2:178532770

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349413364

rs_2154134580

3 SubmittersRCV001799273 RCV002544358 RCV003163934

NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)

SNV
Germline

Chr2:178741524

Likely pathogenic

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349619896

rs_2082478614

3 SubmittersRCV001811839 RCV003451943 RCV005225507

NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter)

SNV
Germline

Chr2:178568528

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349605994

rs_752137856

1 SubmittersRCV001807792

NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter)

SNV
Germline

Chr2:178725930

Likely pathogenic

Hypertrophic cardiomyopathy 9

Criteria Provided
Single Submitter

CA349545065

rs_2154304590

1 SubmittersRCV001809051

NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=)

SNV
Germline

Chr2:178560674

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984671

rs_978230375

4 SubmittersRCV001815899 RCV003772273 RCV005288546

NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)

SNV
Germline

Chr2:178732553

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349583895

rs_2154310403

3 SubmittersRCV001822120 RCV003772281

NM_001267550.2(TTN):c.100585T>C (p.Trp33529Arg)

SNV
Germline

Chr2:178536162

Conflicting classifications of pathogenicity

not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60960675

rs_998397847

3 SubmittersRCV001825063 RCV005361749 RCV004797954

NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp)

SNV
Germline

Chr2:178688182

Conflicting classifications of pathogenicity

Tip-toe gait
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349551955

rs_1328991757

2 SubmittersRCV001836675 RCV003434328

NM_001267550.2(TTN):c.104800C>T (p.Gln34934Ter)

SNV
Germline

Chr2:178531815

Likely pathogenic

Tip-toe gait

Criteria Provided
Single Submitter

CA349410895

rs_1461686325

1 SubmittersRCV001848598

NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)

SNV
Germline

Chr2:178617384

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349613758

rs_530338718

2 SubmittersRCV002025886 RCV006272482

NM_001267550.2(TTN):c.39547+1G>A

SNV
Germline

Chr2:178651452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454982

rs_1335572575

1 SubmittersRCV001944925

NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)

SNV
Germline

Chr2:178548487

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349487589

rs_1416323929

3 SubmittersRCV001995483 RCV003365618 RCV004729007

NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)

SNV
Germline

Chr2:178561530

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559104

rs_2154159779

1 SubmittersRCV002035827

NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter)

SNV
Germline

Chr2:178740761

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614975

rs_745720217

1 SubmittersRCV002035907

NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter)

SNV
Germline

Chr2:178740974

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349615893

rs_2154318496

1 SubmittersRCV001975337

NM_001267550.2(TTN):c.46429+1G>T

SNV
Germline

Chr2:178619987

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349626552

rs_2154210677

2 SubmittersRCV001990600 RCV004719212

NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)

SNV
Germline

Chr2:178557323

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349532892

rs_200314496

3 SubmittersRCV002038965 RCV002352771 RCV004671631

NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)

SNV
Germline

Chr2:178528755

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349402282

rs_750660824

1 SubmittersRCV002046323

NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)

SNV
Germline

Chr2:178601691

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349541723

rs_2154193077

2 SubmittersRCV001966055 RCV005505340

NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)

SNV
Germline

Chr2:178540353

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349436374

rs_1301441435

2 SubmittersRCV002036552 RCV002361412

NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter)

SNV
Germline

Chr2:178780185

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349482915

rs_2092638111

2 SubmittersRCV002014825 RCV006713963

NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)

SNV
Germline

Chr2:178729847

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349562613

rs_2154307591

1 SubmittersRCV002018983

NM_001267550.2(TTN):c.36448+2T>C

SNV
Germline

Chr2:178663817

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349498456

rs_1426178024

4 SubmittersRCV001867180 RCV003314698

NM_001267550.2(TTN):c.41330-1G>T

SNV
Germline

Chr2:178636242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660568

rs_2154230691

1 SubmittersRCV001892588

NM_001267550.2(TTN):c.64673-2A>G

SNV
Germline

Chr2:178584970

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349438497

rs_2154180194

5 SubmittersRCV002012601 RCV004045405 RCV004543676 RCV005254004

NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)

SNV
Germline

Chr2:178567790

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349603223

rs_2154166540

1 SubmittersRCV001990729

NM_001267550.2(TTN):c.48160+1G>C

SNV
Germline

Chr2:178616728

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1994908

rs_779498825

2 SubmittersRCV001966358 RCV005925392

NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)

SNV
Germline

Chr2:178575908

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349664054

rs_908321623

1 SubmittersRCV001991932

NM_001267550.2(TTN):c.2841+1G>C

SNV
Germline

Chr2:178783719

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349494159

rs_2154350493

1 SubmittersRCV001894224

NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)

SNV
Germline

Chr2:178565674

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588691

rs_2154164995

1 SubmittersRCV001968828

NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)

SNV
Germline

Chr2:178547194

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349475130

rs_1429264347

1 SubmittersRCV001970653

NM_001267550.2(TTN):c.49049-1G>C

SNV
Germline

Chr2:178614349

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349606833

rs_868064056

2 SubmittersRCV002015377 RCV004990551

NM_001267550.2(TTN):c.23099-2A>G

SNV
Germline

Chr2:178720665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516139

rs_2154300788

1 SubmittersRCV001991737

NM_001267550.2(TTN):c.35714-1G>C

SNV
Germline

Chr2:178667320

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349508776

rs_2154261850

1 SubmittersRCV001929617

NM_001267550.2(TTN):c.33419-2A>C

SNV
Germline

Chr2:178680057

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998335

rs_756841034

4 SubmittersRCV001965474 RCV002479530 RCV003136347

NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)

SNV
Germline

Chr2:178580398

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425084

rs_2047426908

1 SubmittersRCV001999190

NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)

SNV
Germline

Chr2:178574297

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349650413

rs_1217858818

1 SubmittersRCV002028105

NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)

SNV
Germline

Chr2:178607940

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349570333

rs_2055319182

2 SubmittersRCV002036047 RCV004044775

NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)

SNV
Germline

Chr2:178622729

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638896

rs_2154213117

1 SubmittersRCV002036156

NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)

SNV
Germline

Chr2:178560117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349547006

rs_1559284497

2 SubmittersRCV001961362 RCV005405798

NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)

SNV
Germline

Chr2:178563585

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349572969

rs_2154161494

1 SubmittersRCV001961386

NM_001267550.2(TTN):c.86821+1G>A

SNV
Germline

Chr2:178559310

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349541256

rs_1702741860

2 SubmittersRCV001894508 RCV005503196

NM_001267550.2(TTN):c.10114+1G>T

SNV
Germline

Chr2:178764176

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673690

rs_2154339650

1 SubmittersRCV002033866

NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)

SNV
Germline

Chr2:178620108

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349627605

rs_2154210717

1 SubmittersRCV001890792

NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)

SNV
Germline

Chr2:178549023

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349492504

rs_2154147843

1 SubmittersRCV001995057

NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)

SNV
Germline

Chr2:178532346

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349412112

rs_2154134221

1 SubmittersRCV001995119

NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter)

SNV
Germline

Chr2:178632575

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349650714

rs_1559955466

2 SubmittersRCV001964006 RCV006280862

NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)

SNV
Germline

Chr2:178539615

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349432385

rs_2154140054

1 SubmittersRCV002016626

NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)

SNV
Germline

Chr2:178773991

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680851

rs_2154344933

1 SubmittersRCV001948318

NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)

SNV
Germline

Chr2:178552512

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349511214

rs_2154151318

1 SubmittersRCV001998784

NM_001267550.2(TTN):c.7856-1G>T

SNV
Germline

Chr2:178771472

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678823

rs_2154343384

1 SubmittersRCV001875431

NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)

SNV
Germline

Chr2:178530241

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA430234991

rs_2154132585

2 SubmittersRCV002031641 RCV004587295

NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr)

SNV
Germline

Chr2:178562148

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988851

rs_751728774

2 SubmittersRCV001874239 RCV003164127

NM_001267550.2(TTN):c.68224+2T>C

SNV
Germline

Chr2:178578804

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349673342

rs_1321711553

2 SubmittersRCV002013242 RCV004545837

NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)

SNV
Germline

Chr2:178552669

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512681

rs_2154151450

1 SubmittersRCV002042376

NM_001267550.2(TTN):c.18307+2T>C

SNV
Germline

Chr2:178730091

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349563592

rs_2154307882

1 SubmittersRCV001977518

NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)

SNV
Germline

Chr2:178620841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349631872

rs_2154211378

2 SubmittersRCV002005258 RCV006691182

NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)

SNV
Germline

Chr2:178528300

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349401259

rs_1575185742

1 SubmittersRCV002005305

NM_001267550.2(TTN):c.32887+2T>C

SNV
Germline

Chr2:178683209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542733

rs_2154273077

1 SubmittersRCV002050735

NM_001267550.2(TTN):c.32012-1G>T

SNV
Germline

Chr2:178689137

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349554539

rs_2154278075

1 SubmittersRCV001879594

NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)

SNV
Germline

Chr2:178588790

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349458816

rs_1306891128

3 SubmittersRCV002047006 RCV003164031 RCV006691009

NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)

SNV
Germline

Chr2:178543227

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445636

rs_2154143363

1 SubmittersRCV001966581

NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)

SNV
Germline

Chr2:178794404

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA349515218

rs_1313233245

3 SubmittersRCV002035545 RCV002389012 RCV002498003

NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)

SNV
Germline

Chr2:178604082

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349550920

rs_2154194712

1 SubmittersRCV002003983

NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu)

SNV
Germline

Chr2:178532234

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349411859

rs_1302011604

2 SubmittersRCV001958205 RCV005405782

NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)

SNV
Germline

Chr2:178535408

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421303

rs_2154136654

1 SubmittersRCV001969324

NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)

SNV
Germline

Chr2:178575665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349662931

rs_2154172442

1 SubmittersRCV002013306

NM_001267550.2(TTN):c.97492+1G>A

SNV
Germline

Chr2:178542263

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349439017

rs_727505319

4 SubmittersRCV001927167 RCV002361187 RCV004728910 RCV005255693

NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter)

SNV
Germline

Chr2:178696109

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349566126

rs_1167073084

1 SubmittersRCV001884562

NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)

SNV
Germline

Chr2:178611270

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349591486

rs_2154199623

1 SubmittersRCV001976338

NM_001267550.2(TTN):c.45895+1G>T

SNV
Germline

Chr2:178620714

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995354

rs_727504589

3 SubmittersRCV001976460 RCV004720993 RCV006666890

NM_001267550.2(TTN):c.58151-2A>G

SNV
Germline

Chr2:178594244

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349509023

rs_2154187087

1 SubmittersRCV002022838

NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp)

SNV
Germline

Chr2:178534936

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985852

rs_764487443

2 SubmittersRCV001997016 RCV005405784

NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)

SNV
Germline

Chr2:178562797

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349568257

rs_2154160959

2 SubmittersRCV002007789 RCV005505356

NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter)

SNV
Germline

Chr2:178651288

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454265

rs_2154249634

1 SubmittersRCV002022518

NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val)

SNV
Germline

Chr2:178589912

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992306

rs_759096564

3 SubmittersRCV002011128 RCV004538728 RCV005622155

NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)

SNV
Germline

Chr2:178604832

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349554720

rs_2154195201

1 SubmittersRCV002045344

NM_001267550.2(TTN):c.32639-2A>C

SNV
Germline

Chr2:178684415

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546491

rs_2154274686

1 SubmittersRCV001940900

NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)

SNV
Germline

Chr2:178535580

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421957

rs_561471402

1 SubmittersRCV002033407

NM_001267550.2(TTN):c.47760+1G>A

SNV
Germline

Chr2:178617324

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349613492

rs_2154208642

1 SubmittersRCV002006049

NM_001267550.2(TTN):c.95120-2A>G

SNV
Germline

Chr2:178546118

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349466212

rs_2154145628

1 SubmittersRCV002006142

NM_001267550.2(TTN):c.25639+2T>C

SNV
Germline

Chr2:178717093

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Single Submitter

CA2000184

rs_769452066

2 SubmittersRCV002048668 RCV004538741

NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter)

SNV
Germline

Chr2:178779375

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349477921

rs_2154347744

1 SubmittersRCV002051475

NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)

SNV
Germline

Chr2:178562033

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349562388

rs_762450131

1 SubmittersRCV002020002

NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)

SNV
Germline

Chr2:178588037

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349453254

rs_1341948399

3 SubmittersRCV002045099 RCV004721003 RCV004764981

NM_001267550.2(TTN):c.9305+4A>C

SNV
Germline

Chr2:178768010

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004383

rs_746628782

2 SubmittersRCV001919675 RCV002370535

NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)

SNV
Germline

Chr2:178572512

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638047

rs_2154170160

1 SubmittersRCV002018669

NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)

SNV
Germline

Chr2:178563620

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349573151

rs_1181684993

1 SubmittersRCV002020397

NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)

SNV
Germline

Chr2:178635990

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349658052

rs_2154230108

3 SubmittersRCV001898676 RCV003167010 RCV004719193

NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter)

SNV
Germline

Chr2:178793523

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513658

rs_2154355442

1 SubmittersRCV001971304

NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter)

SNV
Germline

Chr2:178776692

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349455554

rs_2154346258

1 SubmittersRCV001928904

NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter)

SNV
Germline

Chr2:178775476

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440066

rs_762914675

1 SubmittersRCV001884649

NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)

SNV
Germline

Chr2:178565873

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349589840

rs_895018646

1 SubmittersRCV001995405

NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)

SNV
Germline

Chr2:178642287

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61010406

rs_974323028

3 SubmittersRCV001977795 RCV002386845 RCV003136398

NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)

SNV
Germline

Chr2:178542493

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441080

rs_2154142586

1 SubmittersRCV001976575

NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)

SNV
Germline

Chr2:178572398

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349637291

rs_753105114

2 SubmittersRCV002007077 RCV004990569

NM_001267550.2(TTN):c.1662+2T>G

SNV
Germline

Chr2:178792070

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349510313

rs_2154354670

1 SubmittersRCV001974352

NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)

SNV
Germline

Chr2:178577399

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349670828

rs_2154173745

1 SubmittersRCV002006579

NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)

SNV
Germline

Chr2:178553016

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515082

rs_2154151700

1 SubmittersRCV002035989

NM_001267550.2(TTN):c.17741-1G>A

SNV
Germline

Chr2:178730793

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349569940

rs_2154308493

1 SubmittersRCV002006841

NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)

SNV
Germline

Chr2:178579190

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422828

rs_2154175288

1 SubmittersRCV002043676

NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)

SNV
Germline

Chr2:178609391

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579233

rs_2154198436

1 SubmittersRCV001998403

NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)

SNV
Germline

Chr2:178598916

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526755

rs_2154190918

1 SubmittersRCV002035802

NM_001267550.2(TTN):c.40928-2A>C

SNV
Germline

Chr2:178636801

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349662051

rs_2154231706

1 SubmittersRCV001999586

NM_001267550.2(TTN):c.97492+1G>T

SNV
Germline

Chr2:178542263

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349439004

rs_727505319

1 SubmittersRCV002007556

NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)

SNV
Germline

Chr2:178559881

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349545394

rs_772058084

1 SubmittersRCV002040439

NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)

SNV
Germline

Chr2:178565752

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349589096

rs_2154165062

3 SubmittersRCV002016356 RCV002346287 RCV003224607

NM_001267550.2(TTN):c.39817+1G>C

SNV
Germline

Chr2:178650163

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA349449059

rs_959064823

3 SubmittersRCV001896684 RCV003136278 RCV004785364

NM_001267550.2(TTN):c.91270+1G>A

SNV
Germline

Chr2:178551629

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349502524

rs_2154150675

1 SubmittersRCV002042988

NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)

SNV
Germline

Chr2:178621867

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349637591

rs_2154212373

2 SubmittersRCV002040341 RCV005054401

NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)

SNV
Germline

Chr2:178549705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349495018

rs_2154148429

2 SubmittersRCV002037285 RCV002359281

NM_001267550.2(TTN):c.44815+1G>A

SNV
Germline

Chr2:178624464

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349640109

rs_1274007753

3 SubmittersRCV001949875 RCV006634947 RCV005860274

NM_001267550.2(TTN):c.98990-2A>C

SNV
Germline

Chr2:178538841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349431203

rs_2154139399

1 SubmittersRCV001989015

NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)

SNV
Germline

Chr2:178601884

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542643

rs_1284529298

1 SubmittersRCV001980851

NM_001267550.2(TTN):c.35308+1G>T

SNV
Germline

Chr2:178671089

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349515170

rs_1423135750

2 SubmittersRCV001934365 RCV005635348

NM_001267550.2(TTN):c.39625+2T>C

SNV
Germline

Chr2:178651241

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1996654

rs_774766702

1 SubmittersRCV002012748

NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)

SNV
Germline

Chr2:178593719

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349504290

rs_2154186640

2 SubmittersRCV002040585 RCV002324480

NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)

SNV
Germline

Chr2:178541444

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60967027

rs_780653613

2 SubmittersRCV002049926 RCV004681258

NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr)

SNV
Germline

Chr2:178533630

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1985671

rs_749925915

3 SubmittersRCV002016940 RCV005405805 RCV005025645

NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)

SNV
Germline

Chr2:178607812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349569255

rs_2154197188

3 SubmittersRCV002044380 RCV003164026 RCV006550557

NM_001267550.2(TTN):c.49649-2A>T

SNV
Germline

Chr2:178613074

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601647

rs_2154200803

1 SubmittersRCV002041465

NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)

SNV
Germline

Chr2:178729365

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559737

rs_2079975361

1 SubmittersRCV002003396

NM_001267550.2(TTN):c.88009+2T>G

SNV
Germline

Chr2:178557251

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349532403

rs_1701869111

2 SubmittersRCV002044307 RCV004809682

NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)

SNV
Germline

Chr2:178723046

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Centronuclear myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349530031

rs_2078691261

3 SubmittersRCV002036247 RCV004587293 RCV004797985

NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)

SNV
Germline

Chr2:178532097

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985412

rs_546085542

2 SubmittersRCV002036321 RCV003487020

NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)

SNV
Germline

Chr2:178552163

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349507002

rs_2154151058

1 SubmittersRCV002036472

NM_001267550.2(TTN):c.7057+2T>C

SNV
Germline

Chr2:178774205

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681114

rs_2154345049

1 SubmittersRCV001991369

NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)

SNV
Germline

Chr2:178561489

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349558808

rs_2154159715

2 SubmittersRCV001991448 RCV002346262

NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)

SNV
Germline

Chr2:178576321

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349666359

rs_1213132001

1 SubmittersRCV002015313

NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)

SNV
Germline

Chr2:178581640

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349428669

rs_757047748

2 SubmittersRCV002003015 RCV002282674

NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)

SNV
Germline

Chr2:178588137

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454569

rs_878991431

1 SubmittersRCV001995859

NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)

SNV
Germline

Chr2:178577763

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349671442

rs_2154174003

1 SubmittersRCV002014027

NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter)

SNV
Germline

Chr2:178739612

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607139

rs_2154317658

1 SubmittersRCV002014158

NM_001267550.2(TTN):c.3101-1G>A

SNV
Germline

Chr2:178782603

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489205

rs_2092877322

1 SubmittersRCV001883231

NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)

SNV
Germline

Chr2:178576272

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA61003658

rs_869067204

2 SubmittersRCV002001099 RCV005405799

NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)

SNV
Germline

Chr2:178549100

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349492946

rs_2154147893

3 SubmittersRCV002026335 RCV004729046

NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)

SNV
Germline

Chr2:178563006

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349569287

rs_2154161090

1 SubmittersRCV002018490

NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)

SNV
Germline

Chr2:178589616

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349465928

rs_2154183898

2 SubmittersRCV002026380 RCV006667048

NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)

SNV
Germline

Chr2:178546072

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349465958

rs_2154145603

3 SubmittersRCV002001006 RCV003232507 RCV004017889

NM_001267550.2(TTN):c.1246-2A>G

SNV
Germline

Chr2:178794553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516905

rs_2154355995

1 SubmittersRCV002026166

NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)

SNV
Germline

Chr2:178536024

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349424833

rs_2154137150

1 SubmittersRCV002039273

NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter)

SNV
Germline

Chr2:178677873

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349530700

rs_2154268786

1 SubmittersRCV002031917

NM_001267550.2(TTN):c.23377+2T>C

SNV
Germline

Chr2:178720383

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349513380

rs_2154300619

2 SubmittersRCV001872344 RCV003482375

NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr)

SNV
Germline

Chr2:178533158

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349414228

rs_2154134918

2 SubmittersRCV001996047 RCV005405802

NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter)

SNV
Germline

Chr2:178770125

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349677077

rs_1574564600

1 SubmittersRCV002008220

NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)

SNV
Germline

Chr2:178565564

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349587823

rs_769878576

1 SubmittersRCV002008283

NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)

SNV
Germline

Chr2:178617839

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA1995036

rs_762271078

2 SubmittersRCV002023006 RCV004764982

NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter)

SNV
Germline

Chr2:178740161

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609526

rs_757979946

1 SubmittersRCV001948581

NM_001267550.2(TTN):c.53003-1G>C

SNV
Germline

Chr2:178607686

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568942

rs_2154197076

1 SubmittersRCV002033625

NM_001267550.2(TTN):c.106532-2A>C

SNV
Germline

Chr2:178529221

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985076

rs_753610150

2 SubmittersRCV002029605 RCV006667054

NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)

SNV
Germline

Chr2:178546340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349467840

rs_2154145831

2 SubmittersRCV002020788 RCV004681408

NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)

SNV
Germline

Chr2:178618740

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349622186

rs_749463044

2 SubmittersRCV001927866 RCV006362896

NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter)

SNV
Germline

Chr2:178727258

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349548971

rs_2079499416

2 SubmittersRCV001903525 RCV006251077

NM_001267550.2(TTN):c.32554+1G>A

SNV
Germline

Chr2:178684905

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547247

rs_376018437

1 SubmittersRCV002006283

NM_001267550.2(TTN):c.20276-1G>C

SNV
Germline

Chr2:178726047

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546282

rs_2154304651

1 SubmittersRCV002033504

NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)

SNV
Germline

Chr2:178599376

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532257

rs_2154191239

1 SubmittersRCV002006342

NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)

SNV
Germline

Chr2:178714292

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349469046

rs_778206438

2 SubmittersRCV002006533 RCV003136417

NM_001267550.2(TTN):c.64396+2T>C

SNV
Germline

Chr2:178586503

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440799

rs_2154181458

1 SubmittersRCV002029499

NM_001267550.2(TTN):c.33580+1G>A

SNV
Germline

Chr2:178679893

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349536899

rs_2068947933

2 SubmittersRCV002047187 RCV005412288

NM_001267550.2(TTN):c.45616+1G>C

SNV
Germline

Chr2:178621101

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633190

rs_1395648308

1 SubmittersRCV001883731

NM_001267550.2(TTN):c.20836+2T>C

SNV
Germline

Chr2:178725366

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001150

rs_776932740

2 SubmittersRCV001955727 RCV004697170

NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)

SNV
Germline

Chr2:178547670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349479265

rs_2154146843

1 SubmittersRCV002002615

NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)

SNV
Germline

Chr2:178530498

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349406998

rs_778126842

1 SubmittersRCV001975648

NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)

SNV
Germline

Chr2:178532553

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1985491

rs_775049806

3 SubmittersRCV001915685 RCV002397885 RCV002490234

NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)

SNV
Germline

Chr2:178544384

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349456914

rs_2154144237

2 SubmittersRCV001980587 RCV003235647

NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)

SNV
Germline

Chr2:178558121

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349537766

rs_2154156172

1 SubmittersRCV002026808

NM_001267550.2(TTN):c.64973-1G>C

SNV
Germline

Chr2:178584579

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349435999

rs_2154179915

1 SubmittersRCV002026846

NM_001267550.2(TTN):c.35630-1G>C

SNV
Germline

Chr2:178667526

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349509510

rs_2154262004

1 SubmittersRCV001913556

NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter)

SNV
Germline

Chr2:178739513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349606758

rs_2154317609

2 SubmittersRCV001984485 RCV005513179

NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)

SNV
Germline

Chr2:178573558

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349646542

rs_2154170941

2 SubmittersRCV002001357 RCV004990540

NM_001267550.2(TTN):c.100172-1G>C

SNV
Germline

Chr2:178536576

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426601

rs_2154137558

1 SubmittersRCV001980420

NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)

SNV
Germline

Chr2:178563960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349575082

rs_2154161781

2 SubmittersRCV001980456 RCV006249796

NM_001267550.2(TTN):c.35713+2T>A

SNV
Germline

Chr2:178667440

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349508846

rs_774814237

1 SubmittersRCV002023872

NM_001267550.2(TTN):c.17461+1G>C

SNV
Germline

Chr2:178731304

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2001829

rs_747990127

1 SubmittersRCV001863284

NM_001267550.2(TTN):c.35545+1G>A

SNV
Germline

Chr2:178669372

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349511158

rs_2154263213

1 SubmittersRCV001863443

NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)

SNV
Germline

Chr2:178545972

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349463426

rs_1696912764

1 SubmittersRCV002042620

NM_001267550.2(TTN):c.52103-1G>A

SNV
Germline

Chr2:178608909

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349576962

rs_2154197995

2 SubmittersRCV002021070 RCV006717603

NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)

SNV
Germline

Chr2:178537174

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427124

rs_2154138051

1 SubmittersRCV002048540

NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)

SNV
Germline

Chr2:178552482

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349510962

rs_2154151302

1 SubmittersRCV001986383

NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)

SNV
Germline

Chr2:178573085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349644254

rs_2154170589

1 SubmittersRCV002023947

NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)

SNV
Germline

Chr2:178612858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600686

rs_1553699440

1 SubmittersRCV002023996

NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys)

SNV
Germline

Chr2:178532483

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349412400

rs_767826322

3 SubmittersRCV002024071 RCV004801133

NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)

SNV
Germline

Chr2:178534030

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349417209

rs_1690344942

2 SubmittersRCV001998116 RCV003170223

NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)

SNV
Germline

Chr2:178634573

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349655497

rs_2154227697

2 SubmittersRCV001998148 RCV005772299

NM_001267550.2(TTN):c.68224+1G>A

SNV
Germline

Chr2:178578805

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991167

rs_754250350

3 SubmittersRCV001978626 RCV003120796 RCV005505372

NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)

SNV
Germline

Chr2:178528923

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349402945

rs_753984036

1 SubmittersRCV001986127

NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)

SNV
Germline

Chr2:178569870

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349616240

rs_1707503235

1 SubmittersRCV002021608

NM_001267550.2(TTN):c.36365-1G>A

SNV
Germline

Chr2:178663903

Conflicting classifications of pathogenicity

TTN-related disorder
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1997510

rs_577672565

4 SubmittersRCV004542173 RCV004785373 RCV003442954 RCV001916354

NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter)

SNV
Germline

Chr2:178739825

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608090

rs_903809826

1 SubmittersRCV001963492

NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)

SNV
Germline

Chr2:178589875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349468282

rs_2154184066

1 SubmittersRCV001956952

NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)

SNV
Germline

Chr2:178548592

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349488395

rs_2154147529

2 SubmittersRCV001998034 RCV002370623

NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)

SNV
Germline

Chr2:178589199

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464554

rs_2049710031

1 SubmittersRCV002011044

NM_001267550.2(TTN):c.91+1G>A

SNV
Germline

Chr2:178804551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349533249

rs_2154360987

1 SubmittersRCV001983580

NM_001267550.2(TTN):c.64673-1G>A

SNV
Germline

Chr2:178584969

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349438492

rs_2154180190

2 SubmittersRCV002040987 RCV006717609

NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)

SNV
Germline

Chr2:178580113

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349424326

rs_2154176072

2 SubmittersRCV002038511 RCV002551175

NM_001267550.2(TTN):c.107224-2A>G

SNV
Germline

Chr2:178528429

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349401547

rs_111401822

1 SubmittersRCV002024952

NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)

SNV
Germline

Chr2:178573623

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646843

rs_2154170981

1 SubmittersRCV001980882

NM_001267550.2(TTN):c.48461-1G>A

SNV
Germline

Chr2:178615485

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609469

rs_2154206288

1 SubmittersRCV001981155

NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)

SNV
Germline

Chr2:178563133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349570098

rs_2154161170

2 SubmittersRCV002038392 RCV004721011

NM_001267550.2(TTN):c.67569G>A (p.Val22523=)

SNV
Germline

Chr2:178579628

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991284

rs_376719475

2 SubmittersRCV002145357 RCV002260717

NM_001267550.2(TTN):c.34787-12A>G

SNV
Germline

Chr2:178672715

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60979143

rs_1023726354

2 SubmittersRCV005254028 RCV002131960

NM_001267550.2(TTN):c.39384C>T (p.Thr13128=)

SNV
Germline

Chr2:178651745

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996732

rs_746067865

2 SubmittersRCV002188282 RCV003491052

NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)

SNV
Germline

Chr2:178534993

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985860

rs_780835388

4 SubmittersRCV002205814 RCV002382318 RCV003138073

NM_001267550.2(TTN):c.58732+8T>C

SNV
Germline

Chr2:178593560

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1310540724

rs_2050707804

2 SubmittersRCV002209984 RCV003886557

NM_001267550.2(TTN):c.6315A>C (p.Pro2105=)

SNV
Germline

Chr2:178775549

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA430280097

rs_1347825753

3 SubmittersRCV002088569 RCV005635455 RCV006651049

NM_001267550.2(TTN):c.62317C>T (p.Leu20773=)

SNV
Germline

Chr2:178589408

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430265484

rs_375173874

2 SubmittersRCV002180897 RCV004598190

NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)

SNV
Germline

Chr2:178729100

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001495

rs_200120672

2 SubmittersRCV002136763 RCV003138082

NM_001267550.2(TTN):c.60954G>A (p.Val20318=)

SNV
Germline

Chr2:178590771

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992420

rs_748022439

3 SubmittersRCV002108592 RCV002454505 RCV004529097

NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)

SNV
Germline

Chr2:178543915

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241644

rs_751316145

2 SubmittersRCV002200769 RCV002373030

NM_001267550.2(TTN):c.58733-5T>A

SNV
Germline

Chr2:178593480

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA761290861

rs_1254611353

2 SubmittersRCV002216643 RCV006717658

NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)

SNV
Germline

Chr2:178532785

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430236438

rs_1321633640

2 SubmittersRCV002207334 RCV003138072

NM_001267550.2(TTN):c.26607G>A (p.Glu8869=)

SNV
Germline

Chr2:178714051

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999961

rs_747118425

2 SubmittersRCV002139455 RCV003138086

NM_001267550.2(TTN):c.92682C>T (p.Phe30894=)

SNV
Germline

Chr2:178548944

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430243436

rs_2154147790

2 SubmittersRCV002214183 RCV005225564

NM_001267550.2(TTN):c.78243A>T (p.Glu26081Asp)

SNV
Germline

Chr2:178567889

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989640

rs_768895653

2 SubmittersRCV002214186 RCV003150489

NM_001267550.2(TTN):c.27136C>T (p.Pro9046Ser)

SNV
Germline

Chr2:178712889

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999860

rs_772800519

3 SubmittersRCV002214196

NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile)

SNV
Germline

Chr2:178733836

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002202

rs_370535651

2 SubmittersRCV002221802

NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)

SNV
Germline

Chr2:178598951

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349527206

rs_2154190939

2 SubmittersRCV002222840 RCV003093865

NM_001267550.2(TTN):c.5194C>T (p.Pro1732Ser)

SNV
Germline

Chr2:178776670

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349455292

rs_1375104988

2 SubmittersRCV002224197 RCV005405871

NM_001267550.2(TTN):c.25004C>A (p.Ser8335Ter)

SNV
Germline

Chr2:178718002

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349490876

rs_2154299298

1 SubmittersRCV002224422

NM_001267550.2(TTN):c.583+2T>C

SNV
Germline

Chr2:178800393

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2006299

rs_772731855

3 SubmittersRCV002224532 RCV004681463 RCV005209564

NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter)

SNV
Germline

Chr2:178731843

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349576434

rs_1199616569

2 SubmittersRCV002224685 RCV003774665

NM_001267550.2(TTN):c.22646C>G (p.Ser7549Ter)

SNV
Germline

Chr2:178722017

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349521350

rs_2154301553

1 SubmittersRCV002224691

NM_001267550.2(TTN):c.25922-1G>C

SNV
Germline

Chr2:178715265

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349477060

rs_2154297723

2 SubmittersRCV002224711 RCV003093883

NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)

SNV
Germline

Chr2:178568947

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA1989810

rs_542074139

4 SubmittersRCV002224727 RCV003339936 RCV002496166

NM_001267550.2(TTN):c.32665C>T (p.Gln10889Ter)

SNV
Germline

Chr2:178684387

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349546305

rs_1577378975

2 SubmittersRCV002224728 RCV006558654

NM_001267550.2(TTN):c.21170T>G (p.Leu7057Ter)

SNV
Germline

Chr2:178724089

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349537011

rs_2154303312

1 SubmittersRCV002224748

NM_001267550.2(TTN):c.80190T>A (p.Tyr26730Ter)

SNV
Germline

Chr2:178565942

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349590450

rs_1060503950

1 SubmittersRCV002224750

NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter)

SNV
Germline

Chr2:178536508

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349426459

rs_1575311499

3 SubmittersRCV002224950 RCV004764983 RCV006558656

NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter)

SNV
Germline

Chr2:178573444

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646027

rs_2154170836

1 SubmittersRCV002225169

NM_001267550.2(TTN):c.16160G>A (p.Arg5387Lys)

SNV
Germline

Chr2:178733016

Likely pathogenic

Tip-toe gait

No Assertion Criteria Provided

CA349587236

rs_748155563

1 SubmittersRCV002225249

NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser)

SNV
Germline

Chr2:178586648

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991929

rs_573165930

3 SubmittersRCV002226127

NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg)

SNV
Germline

Chr2:178619753

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995219

rs_750435043

3 SubmittersRCV002226145

NM_001267550.2(TTN):c.133G>C (p.Val45Leu)

SNV
Germline

Chr2:178802300

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006411

rs_142028110

2 SubmittersRCV002226171

NM_001267550.2(TTN):c.29870C>T (p.Thr9957Ile)

SNV
Germline

Chr2:178704602

Likely pathogenic

Tip-toe gait

No Assertion Criteria Provided

CA349577555

rs_2154291224

1 SubmittersRCV002226408

NM_001267550.2(TTN):c.78215G>A (p.Gly26072Asp)

SNV
Germline

Chr2:178567917

Likely pathogenic

Tip-toe gait

No Assertion Criteria Provided

CA349603502

rs_773200867

1 SubmittersRCV002226411

NM_001267550.2(TTN):c.41467C>G (p.Pro13823Ala)

SNV
Germline

Chr2:178636104

Likely pathogenic

Tip-toe gait

No Assertion Criteria Provided

CA349658568

rs_2154230379

1 SubmittersRCV002226638

NM_001267550.2(TTN):c.10603G>A (p.Gly3535Arg)

SNV
Germline

Chr2:178757617

Likely pathogenic

Tip-toe gait

No Assertion Criteria Provided

CA2004078

rs_374978923

1 SubmittersRCV002227951

NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter)

SNV
Germline

Chr2:178650266

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60967205

rs_879110681

2 SubmittersRCV005213626 RCV005239326

NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)

SNV
Germline

Chr2:178529071

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985058

rs_779206858

3 SubmittersRCV002243601 RCV003093934 RCV005405874

NM_001267550.2(TTN):c.65863+1G>A

SNV
Germline

Chr2:178582939

Pathogenic

Tibial muscular dystrophy

Criteria Provided
Single Submitter

CA349432310

rs_2154178615

1 SubmittersRCV002246796

NM_001267550.2(TTN):c.38876-2A>C

SNV
Germline

Chr2:178652933

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349465884

rs_1185989004

6 SubmittersRCV002281654 RCV002265064 RCV006703490

NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)

SNV
Germline

Chr2:178652476

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy

Criteria Provided
Single Submitter

CA60969289

rs_928476699

2 SubmittersRCV002281658 RCV006558715

NM_001267550.2(TTN):c.24898G>C (p.Glu8300Gln)

SNV
Germline

Chr2:178718108

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA349495236

rs_1300968279

2 SubmittersRCV002266147

NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)

SNV
Germline

Chr2:178672412

Conflicting classifications of pathogenicity

not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60978991

rs_375391365

3 SubmittersRCV002266150 RCV002505907 RCV003438987

NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)

SNV
Germline

Chr2:178631088

Likely pathogenic

Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349646666

rs_1463883512

3 SubmittersRCV002266152 RCV005405878 RCV005225595

NM_001267550.2(TTN):c.39535C>T (p.Pro13179Ser)

SNV
Germline

Chr2:178651465

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA1996683

rs_752224211

2 SubmittersRCV002266154

NM_001267550.2(TTN):c.106781C>A (p.Thr35594Asn)

SNV
Germline

Chr2:178528970

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1985047

rs_756850637

3 SubmittersRCV002269443 RCV003150493 RCV006693051

NM_001267550.2(TTN):c.95647G>A (p.Val31883Met)

SNV
Germline

Chr2:178545463

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986910

rs_72648262

4 SubmittersRCV002269513 RCV005628341

NM_001267550.2(TTN):c.99135G>A (p.Trp33045Ter)

SNV
Germline

Chr2:178538694

Likely pathogenic

Neurodevelopmental delay
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349430881

rs_2154139293

2 SubmittersRCV002274386 RCV005213641

NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)

SNV
Germline

Chr2:178545895

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349462765

rs_780414947

8 SubmittersRCV002363738 RCV002274511 RCV003988880 RCV003774874 RCV004529112 RCV004774644

NM_001267550.2(TTN):c.33229A>T (p.Lys11077Ter)

SNV
Germline

Chr2:178681394

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349539369

rs_2154270980

1 SubmittersRCV002276086

NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)

SNV
Germline

Chr2:178568639

Likely pathogenic

Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1989764

rs_760625258

2 SubmittersRCV002337425 RCV002466287

NM_001267550.2(TTN):c.57545-2A>G

SNV
Germline

Chr2:178595811

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1993025

rs_747068091

2 SubmittersRCV002466288 RCV003774891

NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter)

SNV
Germline

Chr2:178685271

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA349547838

rs_974953849

1 SubmittersRCV002466294

NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)

SNV
Unknown

Chr2:178529199

Likely pathogenic

Dilated cardiomyopathy 1A

No Assertion Criteria Provided

CA349404451

rs_759623627

1 SubmittersRCV002280003

NM_001267550.2(TTN):c.100766-1G>T

SNV
Germline

Chr2:178535850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1985981

rs_185589320

3 SubmittersRCV002282944 RCV003774927 RCV006699436

NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)

SNV
Germline

Chr2:178733698

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349591501

rs_2530219785

2 SubmittersRCV002285674 RCV004529121

NM_001267550.2(TTN):c.100891A>T (p.Lys33631Ter)

SNV
Germline

Chr2:178535724

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349422557

rs_2468585640

2 SubmittersRCV002287195 RCV005635491

NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)

SNV
Germline

Chr2:178528956

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985043

rs_754744644

4 SubmittersRCV002293028 RCV002416561 RCV005213651

NM_001267550.2(TTN):c.3727C>T (p.Gln1243Ter)

SNV
Germline

Chr2:178780002

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349481782

rs_1199136998

1 SubmittersRCV002293034

NM_001267550.2(TTN):c.20837-2A>G

SNV
Germline

Chr2:178724540

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349540274

rs_2529633179

1 SubmittersRCV005239356

NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)

SNV
Germline

Chr2:178624468

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995574

rs_367560855

4 SubmittersRCV002306421 RCV002409653 RCV003491082

NM_001267550.2(TTN):c.57923C>T (p.Pro19308Leu)

SNV
Germline

Chr2:178594571

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992962

rs_745457069

2 SubmittersRCV002319783 RCV005405883

NM_001267550.2(TTN):c.62654G>A (p.Trp20885Ter)

SNV
Germline

Chr2:178589071

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349463780

rs_2469376762

1 SubmittersRCV002454823

NM_001267550.2(TTN):c.64397-1G>A

SNV
Germline

Chr2:178585348

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349440584

rs_876657668

1 SubmittersRCV002349093

NM_001267550.2(TTN):c.66159T>A (p.Tyr22053Ter)

SNV
Germline

Chr2:178582297

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349429754

rs_760885240

1 SubmittersRCV002357430

NM_001267550.2(TTN):c.422G>A (p.Gly141Glu)

SNV
Germline

Chr2:178800556

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006322

rs_750730828

3 SubmittersRCV002328100 RCV003138184 RCV006693087

NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)

SNV
Germline

Chr2:178576326

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990875

rs_750182587

3 SubmittersRCV002329947 RCV003138185 RCV003487027

NM_001267550.2(TTN):c.60419A>G (p.Asn20140Ser)

SNV
Germline

Chr2:178591306

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349484615

rs_1187229401

2 SubmittersRCV002326391 RCV005635500

NM_001267550.2(TTN):c.60796A>G (p.Lys20266Glu)

SNV
Germline

Chr2:178590929

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992446

rs_763212024

2 SubmittersRCV002321074 RCV004763367

NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)

SNV
Germline

Chr2:178579582

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991277

rs_558955595

4 SubmittersRCV002321213 RCV003138181 RCV005405889

NM_001267550.2(TTN):c.67705C>T (p.Arg22569Trp)

SNV
Germline

Chr2:178579325

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991248

rs_746313264

3 SubmittersRCV002321293 RCV005635506 RCV006693083

NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)

SNV
Germline

Chr2:178577342

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349670562

rs_2468776213

2 SubmittersRCV002333444 RCV006558986

NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)

SNV
Germline

Chr2:178777854

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349469933

rs_2532971329

1 SubmittersRCV002327793

NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)

SNV
Germline

Chr2:178574711

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349653815

rs_745999472

2 SubmittersRCV002333907 RCV005227615

NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)

SNV
Germline

Chr2:178591614

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992539

rs_771201679

3 SubmittersRCV002454699 RCV003120898

NM_001267550.2(TTN):c.61770G>A (p.Trp20590Ter)

SNV
Germline

Chr2:178589955

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349469191

rs_2469415251

1 SubmittersRCV002457225

NM_001267550.2(TTN):c.63712C>T (p.Arg21238Cys)

SNV
Germline

Chr2:178587597

Conflicting classifications of pathogenicity

Cardiovascular phenotype
TTN-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992039

rs_190432620

5 SubmittersRCV002346648 RCV004534053 RCV005412398 RCV006651116

NM_001267550.2(TTN):c.72632C>G (p.Ser24211Ter)

SNV
Germline

Chr2:178573500

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349646279

rs_2468588268

1 SubmittersRCV002340119

NM_001267550.2(TTN):c.58606A>T (p.Lys19536Ter)

SNV
Germline

Chr2:178593694

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349503966

rs_2469594241

1 SubmittersRCV002320721

NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)

SNV
Germline

Chr2:178592137

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349490501

rs_2469513309

2 SubmittersRCV002445643 RCV003099335

NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)

SNV
Germline

Chr2:178584831

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60962232

rs_767011515

3 SubmittersRCV002363848 RCV003102439 RCV004764984

NM_001267550.2(TTN):c.65040G>A (p.Trp21680Ter)

SNV
Germline

Chr2:178584511

Likely pathogenic

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349435601

rs_2469142626

2 SubmittersRCV002363895 RCV004546718

NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)

SNV
Germline

Chr2:178581589

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349428418

rs_2468989119

2 SubmittersRCV002357596 RCV005227597

NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)

SNV
Germline

Chr2:178580592

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991429

rs_540425352

2 SubmittersRCV002357650 RCV003138179

NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)

SNV
Germline

Chr2:178580533

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349425756

rs_779240170

2 SubmittersRCV002357699 RCV003775777

NM_001267550.2(TTN):c.68350G>T (p.Glu22784Ter)

SNV
Germline

Chr2:178578165

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349672935

rs_1423648586

1 SubmittersRCV002323441

NM_001267550.2(TTN):c.468C>T (p.Gly156=)

SNV
Germline

Chr2:178800510

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2006318

rs_761096069

2 SubmittersRCV002335243 RCV003102615

NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)

SNV
Germline

Chr2:178569839

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349616078

rs_763605078

2 SubmittersRCV002340679 RCV005209575

NM_001267550.2(TTN):c.1201A>G (p.Ser401Gly)

SNV
Germline

Chr2:178794966

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006123

rs_750083694

2 SubmittersRCV002349650 RCV005635515

NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)

SNV
Germline

Chr2:178561961

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988816

rs_746728021

3 SubmittersRCV002347510 RCV003138205 RCV003776146

NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)

SNV
Germline

Chr2:178740059

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349609059

rs_2530637215

3 SubmittersRCV002347570 RCV004785611 RCV005215834

NM_001267550.2(TTN):c.84583G>T (p.Glu28195Ter)

SNV
Germline

Chr2:178561549

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349559222

rs_2469696390

1 SubmittersRCV002347753

NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)

SNV
Germline

Chr2:178572932

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349643327

rs_1250752630

2 SubmittersRCV002342387 RCV003094782

NM_001267550.2(TTN):c.78248A>G (p.Tyr26083Cys)

SNV
Germline

Chr2:178567884

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60991545

rs_910116004

3 SubmittersRCV002336010 RCV003138193 RCV006651124

NM_001267550.2(TTN):c.81159T>A (p.Tyr27053Ter)

SNV
Germline

Chr2:178564973

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349583110

rs_2468227378

1 SubmittersRCV002347210

NM_001267550.2(TTN):c.83935C>T (p.Gln27979Ter)

SNV
Germline

Chr2:178562197

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349563529

rs_2469717681

1 SubmittersRCV002347384

NM_001267550.2(TTN):c.89708C>T (p.Thr29903Ile)

SNV
Germline

Chr2:178553192

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1987880

rs_72648240

3 SubmittersRCV002366682 RCV005635520 RCV006651129

NM_001267550.2(TTN):c.92404G>T (p.Gly30802Ter)

SNV
Germline

Chr2:178549222

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349493401

rs_2469154798

1 SubmittersRCV002364238

NM_001267550.2(TTN):c.92568T>A (p.Tyr30856Ter)

SNV
Germline

Chr2:178549058

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349492722

rs_1296831661

1 SubmittersRCV002364298

NM_001267550.2(TTN):c.92620G>T (p.Glu30874Ter)

SNV
Germline

Chr2:178549006

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349492358

rs_2469149367

1 SubmittersRCV002364330

NM_001267550.2(TTN):c.73027G>A (p.Ala24343Thr)

SNV
Germline

Chr2:178573105

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990424

rs_72646895

3 SubmittersRCV002342221 RCV003138190 RCV003487028

NM_001267550.2(TTN):c.80457G>A (p.Met26819Ile)

SNV
Germline

Chr2:178565675

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989343

rs_749446343

3 SubmittersRCV002346805 RCV003481281 RCV005405894

NM_001267550.2(TTN):c.80651T>A (p.Leu26884Ter)

SNV
Germline

Chr2:178565481

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349587209

rs_2468248886

1 SubmittersRCV002346910

NM_001267550.2(TTN):c.85796G>C (p.Arg28599Pro)

SNV
Germline

Chr2:178560336

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA349547885

rs_558543425

4 SubmittersRCV002353410 RCV003487030 RCV005239384

NM_001267550.2(TTN):c.85847G>A (p.Arg28616Gln)

SNV
Germline

Chr2:178560285

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988579

rs_373942982

2 SubmittersRCV002353428 RCV006651127

NM_001267550.2(TTN):c.13192C>T (p.Gln4398Ter)

SNV
Germline

Chr2:178740041

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA60983858

rs_868502763

1 SubmittersRCV002353478

NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)

SNV
Germline

Chr2:178777423

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349463355

rs_765316175

2 SubmittersRCV002339863 RCV003094731

NM_001267550.2(TTN):c.74656G>A (p.Glu24886Lys)

SNV
Germline

Chr2:178571476

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349632391

rs_1239424185

2 SubmittersRCV002335535 RCV003334069

NM_001267550.2(TTN):c.74865G>A (p.Trp24955Ter)

SNV
Germline

Chr2:178571267

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349630660

rs_1708081683

1 SubmittersRCV002337693

NM_001267550.2(TTN):c.75010C>T (p.Arg25004Cys)

SNV
Germline

Chr2:178571122

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA349629617

rs_1320326326

2 SubmittersRCV002337780 RCV005405891

NM_001267550.2(TTN):c.77230A>T (p.Lys25744Ter)

SNV
Germline

Chr2:178568902

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349611761

rs_2468382923

1 SubmittersRCV002343072

NM_001267550.2(TTN):c.77237C>A (p.Ser25746Ter)

SNV
Germline

Chr2:178568895

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349611718

rs_2468382669

1 SubmittersRCV002343078

NM_001267550.2(TTN):c.79712T>G (p.Leu26571Ter)

SNV
Germline

Chr2:178566420

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349594243

rs_2468284394

1 SubmittersRCV002340954

NM_001267550.2(TTN):c.82164C>G (p.Tyr27388Ter)

SNV
Germline

Chr2:178563968

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349575121

rs_2468187611

1 SubmittersRCV002351565

NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)

SNV
Germline

Chr2:178563948

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349575009

rs_2468186675

2 SubmittersRCV002351576 RCV006559055

NM_001267550.2(TTN):c.82401T>G (p.Tyr27467Ter)

SNV
Germline

Chr2:178563731

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349573704

rs_771006818

1 SubmittersRCV002351770

NM_001267550.2(TTN):c.5669G>A (p.Arg1890His)

SNV
Germline

Chr2:178776195

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005149

rs_370027329

4 SubmittersRCV002351835 RCV003222418 RCV006651126

NM_001267550.2(TTN):c.96477C>A (p.Cys32159Ter)

SNV
Germline

Chr2:178543496

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349448194

rs_2468932834

1 SubmittersRCV002362381

NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)

SNV
Germline

Chr2:178537564

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA1986161

rs_377598016

3 SubmittersRCV002371074 RCV003138225 RCV004587346

NM_001267550.2(TTN):c.877G>A (p.Val293Ile)

SNV
Germline

Chr2:178799524

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2006205

rs_779553333

2 SubmittersRCV002373651 RCV005405902

NM_001267550.2(TTN):c.7021G>A (p.Asp2341Asn)

SNV
Germline

Chr2:178774243

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004920

rs_781736462

2 SubmittersRCV002362245 RCV003150563

NM_001267550.2(TTN):c.71C>G (p.Thr24Ser)

SNV
Germline

Chr2:178804572

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2006437

rs_536235994

2 SubmittersRCV002370842 RCV005405899

NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp)

SNV
Germline

Chr2:178534287

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985766

rs_754873937

2 SubmittersRCV002393785 RCV003138230

NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)

SNV
Germline

Chr2:178764686

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349674303

rs_2532188334

2 SubmittersRCV002376587 RCV003774201

NM_001267550.2(TTN):c.95042G>A (p.Ser31681Asn)

SNV
Germline

Chr2:178546289

Conflicting classifications of pathogenicity

Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987027

rs_780124773

4 SubmittersRCV002369375 RCV004736161 RCV004770458

NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val)

SNV
Germline

Chr2:178540190

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986459

rs_747898161

2 SubmittersRCV002365118 RCV003138222

NM_001267550.2(TTN):c.98319T>G (p.Tyr32773Ter)

SNV
Germline

Chr2:178539746

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349432894

rs_183278868

1 SubmittersRCV002367415

NM_001267550.2(TTN):c.101397C>G (p.Thr33799=)

SNV
Germline

Chr2:178535218

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430237862

rs_1258137892

3 SubmittersRCV003776388 RCV002384995 RCV006255404

NM_001267550.2(TTN):c.104924G>A (p.Trp34975Ter)

SNV
Germline

Chr2:178531691

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349409874

rs_1181086213

1 SubmittersRCV002409773

NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)

SNV
Germline

Chr2:178531674

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349409836

rs_2468418880

2 SubmittersRCV005227682 RCV002409779

NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)

SNV
Germline

Chr2:178531552

Conflicting classifications of pathogenicity

Ovarian serous cystadenocarcinoma
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985318

rs_757125254

3 SubmittersRCV005931867 RCV003099746 RCV002409835

NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)

SNV
Germline

Chr2:178739504

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349606714

rs_755338726

2 SubmittersRCV002414421 RCV003099959

NM_001267550.2(TTN):c.94190C>A (p.Ser31397Ter)

SNV
Germline

Chr2:178547436

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349477021

rs_2469095187

1 SubmittersRCV002367094

NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)

SNV
Germline

Chr2:178546866

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349472538

rs_2469069452

2 SubmittersRCV002377929 RCV003776303

NM_001267550.2(TTN):c.104265C>G (p.Tyr34755Ter)

SNV
Germline

Chr2:178532350

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349412122

rs_756003817

1 SubmittersRCV002400614

NM_001267550.2(TTN):c.9565C>T (p.Gln3189Ter)

SNV
Germline

Chr2:178766519

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349674873

rs_768694953

1 SubmittersRCV002373991

NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)

SNV
Germline

Chr2:178636132

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA61006563

rs_370755303

3 SubmittersRCV002391882 RCV003491104 RCV006559233

NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter)

SNV
Germline

Chr2:178631232

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349647277

rs_2471418730

1 SubmittersRCV002395101

NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)

SNV
Germline

Chr2:178739296

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349605643

rs_2530597033

2 SubmittersRCV002387427 RCV005215872

NM_001267550.2(TTN):c.1566A>C (p.Val522=)

SNV
Germline

Chr2:178792168

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430114210

rs_2533909416

2 SubmittersRCV002405516 RCV005227729

NM_001267550.2(TTN):c.44488G>A (p.Ala14830Thr)

SNV
Germline

Chr2:178625333

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349641582

rs_1355448697

2 SubmittersRCV002399151 RCV004812448

NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)

SNV
Germline

Chr2:178738152

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349602096

rs_1217230000

2 SubmittersRCV002385694 RCV003774263

NM_001267550.2(TTN):c.14341G>A (p.Val4781Ile)

SNV
Germline

Chr2:178738112

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA349601853

rs_2081852478

2 SubmittersRCV002385762 RCV005405908

NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys)

SNV
Germline

Chr2:178637381

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349662115

rs_1343417772

2 SubmittersRCV002383723 RCV002463207

NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)

SNV
Germline

Chr2:178632743

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430277019

rs_2059955751

3 SubmittersRCV002400859 RCV002473377 RCV003774405

NM_001267550.2(TTN):c.45617-1G>C

SNV
Germline

Chr2:178620994

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349633116

rs_2471025366

1 SubmittersRCV002412864

NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)

SNV
Germline

Chr2:178617121

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994964

rs_747343598

3 SubmittersRCV002422046 RCV002473383

NM_001267550.2(TTN):c.49949-1G>T

SNV
Germline

Chr2:178612577

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349600251

rs_2470545999

2 SubmittersRCV002445990 RCV003101188

NM_001267550.2(TTN):c.51257G>A (p.Arg17086His)

SNV
Germline

Chr2:178610269

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1994225

rs_72632860

3 SubmittersRCV002459683 RCV003487035 RCV006269672

NM_001267550.2(TTN):c.53649G>A (p.Trp17883Ter)

SNV
Germline

Chr2:178605646

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349562096

rs_774663244

1 SubmittersRCV002428649

NM_001267550.2(TTN):c.48638+2T>G

SNV
Germline

Chr2:178615305

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349608717

rs_2470730854

1 SubmittersRCV002430589

NM_001267550.2(TTN):c.48760+1G>T

SNV
Germline

Chr2:178614846

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349608127

rs_1474000709

2 SubmittersRCV002417872 RCV003101092

NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)

SNV
Germline

Chr2:178614847

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349608131

rs_2470693959

2 SubmittersRCV002432529 RCV003775121

NM_001267550.2(TTN):c.49648+1G>T

SNV
Germline

Chr2:178613160

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349601707

rs_2056668331

2 SubmittersRCV002428398 RCV003101161

NM_001267550.2(TTN):c.49658G>A (p.Trp16553Ter)

SNV
Germline

Chr2:178613063

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349601597

rs_1576441321

1 SubmittersRCV002420210

NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter)

SNV
Germline

Chr2:178611462

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349592770

rs_2470493165

2 SubmittersRCV005215909 RCV002448483

NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)

SNV
Germline

Chr2:178609269

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349577837

rs_2154198344

2 SubmittersRCV002430826 RCV005227759

NM_001267550.2(TTN):c.52065C>T (p.His17355=)

SNV
Germline

Chr2:178609245

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994067

rs_766993798

2 SubmittersRCV003101874 RCV002430862

NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)

SNV
Germline

Chr2:178613783

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349604299

rs_754776552

3 SubmittersRCV002420132 RCV003775146 RCV006699444

NM_001267550.2(TTN):c.51710C>T (p.Thr17237Ile)

SNV
Germline

Chr2:178609713

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994135

rs_556967635

2 SubmittersRCV002455433 RCV005635541

NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg)

SNV
Germline

Chr2:178784138

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349495275

rs_2092996974

2 SubmittersRCV002452745 RCV003138270

NM_001267550.2(TTN):c.48286G>T (p.Glu16096Ter)

SNV
Germline

Chr2:178616505

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349611429

rs_2470803770

1 SubmittersRCV002424330

NM_001267550.2(TTN):c.50315G>A (p.Trp16772Ter)

SNV
Germline

Chr2:178612096

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349597135

rs_2470522609

1 SubmittersRCV002428507

NM_001267550.2(TTN):c.51424C>T (p.Gln17142Ter)

SNV
Germline

Chr2:178610102

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349585967

rs_2470424243

1 SubmittersRCV002450411

NM_001267550.2(TTN):c.51503G>A (p.Trp17168Ter)

SNV
Germline

Chr2:178609920

Likely pathogenic

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349585142

rs_2470411842

2 SubmittersRCV002450455 RCV006281014

NM_001267550.2(TTN):c.55269+1G>A

SNV
Germline

Chr2:178602001

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349543216

rs_2470031684

1 SubmittersRCV002441647

NM_001267550.2(TTN):c.54812-2A>T

SNV
Germline

Chr2:178602592

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349547326

rs_2470055476

1 SubmittersRCV002439500

NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn)

SNV
Germline

Chr2:178604216

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993624

rs_779495049

2 SubmittersRCV002431335 RCV003491113

NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)

SNV
Germline

Chr2:178604035

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1993596

rs_775367836

3 SubmittersRCV002439281 RCV002468664 RCV003102166

NM_001267550.2(TTN):c.57262+1G>A

SNV
Germline

Chr2:178597907

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349522258

rs_1468372318

1 SubmittersRCV002435711

NM_001267550.2(TTN):c.57377G>A (p.Trp19126Ter)

SNV
Germline

Chr2:178597705

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349521130

rs_2469800384

1 SubmittersRCV002435844

NM_001267550.2(TTN):c.33743-1G>C

SNV
Germline

Chr2:178678831

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349533814

rs_2473852727

2 SubmittersRCV002461682 RCV005215929

NM_001267550.2(TTN):c.49949-2A>T

SNV
Germline

Chr2:178612578

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349600260

rs_2470546043

2 SubmittersRCV002467156 RCV005215932

NM_001267550.2(TTN):c.21576A>G (p.Ala7192=)

SNV
Germline

Chr2:178723524

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430288127

rs_1271065895

2 SubmittersRCV002475460 RCV006559488

NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)

SNV
Germline

Chr2:178608018

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349570936

rs_2470316880

1 SubmittersRCV003237363

NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)

SNV
Germline

Chr2:178579985

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349424044

rs_749000334

2 SubmittersRCV003237368 RCV006559492

NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)

SNV
Germline

Chr2:178579130

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349422556

rs_2468869487

1 SubmittersRCV003237369

NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)

SNV
Germline

Chr2:178577689

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349671272

rs_2468794802

2 SubmittersRCV003237370 RCV006559493

NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)

SNV
Germline

Chr2:178547652

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349479083

rs_143679526

1 SubmittersRCV003237373

NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)

SNV
Germline

Chr2:178739501

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349606699

rs_2530607571

3 SubmittersRCV003237377 RCV003775552 RCV005405924

NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)

SNV
Germline

Chr2:178633295

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349652991

rs_369959066

1 SubmittersRCV003078649

NM_001267550.2(TTN):c.51436+2T>C

SNV
Germline

Chr2:178610088

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349585822

rs_2055953692

1 SubmittersRCV003091117

NM_001267550.2(TTN):c.36280+2T>G

SNV
Germline

Chr2:178664458

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349499666

rs_1266861758

1 SubmittersRCV003082574

NM_001267550.2(TTN):c.40057+1G>A

SNV
Germline

Chr2:178649247

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349445563

rs_1221769715

1 SubmittersRCV003095443

NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)

SNV
Germline

Chr2:178701528

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349567733

rs_779015756

1 SubmittersRCV003090320

NM_001267550.2(TTN):c.54717C>T (p.Gly18239=)

SNV
Germline

Chr2:178603970

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430269716

rs_368468642

3 SubmittersRCV003092390 RCV004073079 RCV003435874

NM_001267550.2(TTN):c.36202+1G>T

SNV
Germline

Chr2:178664653

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997631

rs_758622001

3 SubmittersRCV002650956 RCV006435300 RCV005620468

NM_001267550.2(TTN):c.36364+1G>C

SNV
Germline

Chr2:178664014

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997535

rs_777040601

2 SubmittersRCV002633420 RCV004823117

NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)

SNV
Germline

Chr2:178528773

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349402355

rs_1687693219

1 SubmittersRCV002651566

NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)

SNV
Germline

Chr2:178549576

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349494393

rs_2469168482

1 SubmittersRCV002651568

NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)

SNV
Germline

Chr2:178558175

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349538050

rs_2469559691

1 SubmittersRCV002651570

NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)

SNV
Germline

Chr2:178565593

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60988923

rs_561152891

3 SubmittersRCV002651571 RCV006251191 RCV006721785

NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)

SNV
Germline

Chr2:178582115

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349429530

rs_2047911570

2 SubmittersRCV002651572 RCV005412486

NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)

SNV
Germline

Chr2:178611842

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349595878

rs_2470511151

2 SubmittersRCV002651573 RCV004775310

NM_001267550.2(TTN):c.14372-2A>G

SNV
Germline

Chr2:178736076

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2002407

rs_747942388

2 SubmittersRCV002664274 RCV004764991

NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)

SNV
Germline

Chr2:178729438

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60977785

rs_867025413

1 SubmittersRCV002624015

NM_001267550.2(TTN):c.31557C>T (p.His10519=)

SNV
Germline

Chr2:178693646

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998914

rs_753136249

2 SubmittersRCV002640439 RCV003140134

NM_001267550.2(TTN):c.39974-1G>A

SNV
Germline

Chr2:178649332

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60966157

rs_879054303

1 SubmittersRCV002644535

NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)

SNV
Germline

Chr2:178554071

Likely pathogenic

Primary familial dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349521437

rs_2469353500

2 SubmittersRCV002510446 RCV004064290

NM_001267550.2(TTN):c.55636G>T (p.Glu18546Ter)

SNV
Germline

Chr2:178601361

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349539579

rs_2469998833

2 SubmittersRCV002511487 RCV006559508

NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)

SNV
Unknown

Chr2:178572052

Likely pathogenic

Cardiomyopathy

No Assertion Criteria Provided

CA349635856

rs_2468519578

1 SubmittersRCV002511508

NM_001267550.2(TTN):c.54812-1G>A

SNV
Germline

Chr2:178602591

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349547322

rs_1416873295

1 SubmittersRCV002512001

NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)

SNV
Germline

Chr2:178591770

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349487578

rs_2469494483

2 SubmittersRCV003112135 RCV004992568

NM_001267550.2(TTN):c.49345+1G>T

SNV
Germline

Chr2:178614051

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349605147

rs_2056846558

1 SubmittersRCV003116055

NM_001267550.2(TTN):c.50919C>T (p.Ser16973=)

SNV
Germline

Chr2:178611210

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984662

rs_750729841

2 SubmittersRCV003108500 RCV006663837

NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)

SNV
Germline

Chr2:178562900

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349568753

rs_1024522369

1 SubmittersRCV003107216

NM_001267550.2(TTN):c.41253C>A (p.Ser13751=)

SNV
Germline

Chr2:178636474

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996298

rs_772643931

2 SubmittersRCV003120090 RCV004245967

NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)

SNV
Germline

Chr2:178723219

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60973865

rs_954173429

2 SubmittersRCV002580344 RCV004719263

NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)

SNV
Germline

Chr2:178566493

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349594513

rs_2154165620

2 SubmittersRCV002577725 RCV003314739

NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)

SNV
Germline

Chr2:178622714

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638795

rs_1265322006

1 SubmittersRCV002601330

NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)

SNV
Germline

Chr2:178565331

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349586011

rs_2468243373

1 SubmittersRCV002590450

NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)

SNV
Germline

Chr2:178773893

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680638

rs_2091883095

1 SubmittersRCV002649608

NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)

SNV
Germline

Chr2:178543135

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349445115

rs_2468921958

2 SubmittersRCV002635273 RCV003225240

NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)

SNV
Germline

Chr2:178547559

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349478227

rs_2469098814

1 SubmittersRCV002649559

NM_001267550.2(TTN):c.64672+2T>A

SNV
Germline

Chr2:178585070

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438512

rs_2154180290

1 SubmittersRCV002622589

NM_001267550.2(TTN):c.102813A>G (p.Val34271=)

SNV
Germline

Chr2:178533802

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60958930

rs_878983012

3 SubmittersRCV002626813 RCV004545358 RCV005635576

NM_001267550.2(TTN):c.584-1G>T

SNV
Germline

Chr2:178799911

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006279

rs_764795457

3 SubmittersRCV002649745 RCV003150574 RCV006721343

NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)

SNV
Germline

Chr2:178775803

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349444230

rs_2092153679

2 SubmittersRCV002650314 RCV004681520

NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr2:178800551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349528015

rs_754182768

1 SubmittersRCV002654038

NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)

SNV
Germline

Chr2:178706681

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349584108

rs_2075920978

2 SubmittersRCV002653247 RCV003138321

NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)

SNV
Germline

Chr2:178739322

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349605786

rs_2530598405

1 SubmittersRCV002715514

NM_001267550.2(TTN):c.33247+2T>A

SNV
Germline

Chr2:178681374

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60983907

rs_878883920

1 SubmittersRCV002734879

NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)

SNV
Germline

Chr2:178585228

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349439275

rs_2469176105

1 SubmittersRCV002714980

NM_001267550.2(TTN):c.40787-2A>G

SNV
Germline

Chr2:178639790

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349662618

rs_2471754892

1 SubmittersRCV002760157

NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)

SNV
Germline

Chr2:178739904

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608429

rs_2082191056

1 SubmittersRCV002736721

NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)

SNV
Germline

Chr2:178735962

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599580

rs_2530379124

1 SubmittersRCV002730659

NM_001267550.2(TTN):c.1398+1G>A

SNV
Germline

Chr2:178794398

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515166

rs_2534047310

1 SubmittersRCV002746703

NM_001267550.2(TTN):c.23939-1G>T

SNV
Germline

Chr2:178719452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349503793

rs_2529297088

1 SubmittersRCV002761176

NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)

SNV
Germline

Chr2:178531129

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349408676

rs_1201789108

1 SubmittersRCV002740519

NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:178804633

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349534004

rs_2534633050

1 SubmittersRCV002735354

NM_001267550.2(TTN):c.36044-2A>C

SNV
Germline

Chr2:178664928

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60975024

rs_939633955

1 SubmittersRCV002795089

NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)

SNV
Germline

Chr2:178720558

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60972179

rs_1031182598

5 SubmittersRCV002795776 RCV005772413 RCV006255449 RCV006636315

NM_001267550.2(TTN):c.25064-1G>A

SNV
Germline

Chr2:178717811

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489913

rs_1418641045

1 SubmittersRCV002765901

NM_001267550.2(TTN):c.9450A>T (p.Arg3150=)

SNV
Germline

Chr2:178767780

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004334

rs_558077210

3 SubmittersRCV002766808 RCV003138349 RCV006357565

NM_001267550.2(TTN):c.33580+2T>C

SNV
Germline

Chr2:178679892

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349536866

rs_2068947331

1 SubmittersRCV002795071

NM_001267550.2(TTN):c.45083-1G>A

SNV
Germline

Chr2:178621742

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349636139

rs_1478618005

2 SubmittersRCV002770427 RCV005433260

NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)

SNV
Germline

Chr2:178617937

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349617180

rs_2470877798

1 SubmittersRCV002775954

NM_001267550.2(TTN):c.36280+1G>T

SNV
Germline

Chr2:178664459

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1997588

rs_768200802

1 SubmittersRCV002796539

NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)

SNV
Germline

Chr2:178527509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349399928

rs_746548465

1 SubmittersRCV002814899

NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)

SNV
Germline

Chr2:178608279

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349572593

rs_2470328795

1 SubmittersRCV002828070

NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)

SNV
Germline

Chr2:178572984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349643663

rs_368415251

1 SubmittersRCV002819822

NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)

SNV
Germline

Chr2:178574888

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349658657

rs_2468651285

1 SubmittersRCV002797303

NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)

SNV
Germline

Chr2:178575999

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349664755

rs_1172742481

2 SubmittersRCV002815539 RCV005505504

NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)

SNV
Germline

Chr2:178771260

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678362

rs_772918817

1 SubmittersRCV002820717

NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)

SNV
Germline

Chr2:178672073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349517411

rs_371165076

1 SubmittersRCV002820879

NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)

SNV
Germline

Chr2:178722259

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349525060

rs_2529480434

1 SubmittersRCV002810879

NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)

SNV
Germline

Chr2:178620886

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349632261

rs_373778707

2 SubmittersRCV002825002 RCV003994462

NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)

SNV
Germline

Chr2:178713334

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349461982

rs_2076941615

1 SubmittersRCV002825009

NM_001267550.2(TTN):c.107223+2T>C

SNV
Germline

Chr2:178528526

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349401549

rs_1687571331

1 SubmittersRCV002816310

NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)

SNV
Germline

Chr2:178547854

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349481035

rs_994627256

1 SubmittersRCV002806470

NM_001267550.2(TTN):c.49648+1G>A

SNV
Germline

Chr2:178613160

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601710

rs_2056668331

1 SubmittersRCV002815935

NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)

SNV
Germline

Chr2:178557849

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349535972

rs_2469547573

1 SubmittersRCV002838100

NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)

SNV
Germline

Chr2:178576956

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349668843

rs_953796748

3 SubmittersRCV002834322 RCV003150577 RCV004697238

NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)

SNV
Germline

Chr2:178548338

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349486451

rs_1280272876

2 SubmittersRCV002829789 RCV005405939

NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)

SNV
Germline

Chr2:178532937

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349413753

rs_2468471502

1 SubmittersRCV002829813

NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)

SNV
Germline

Chr2:178547594

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349478520

rs_2469100063

1 SubmittersRCV002861336

NM_001267550.2(TTN):c.10115-2A>G

SNV
Germline

Chr2:178759174

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349673685

rs_2531940831

1 SubmittersRCV002835285

NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)

SNV
Germline

Chr2:178590713

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349477370

rs_2050024015

1 SubmittersRCV002856994

NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)

SNV
Germline

Chr2:178592961

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349495612

rs_2469555232

1 SubmittersRCV002811969

NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)

SNV
Germline

Chr2:178740342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609994

rs_2530655080

1 SubmittersRCV002811970

NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)

SNV
Germline

Chr2:178620284

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628436

rs_2470995867

1 SubmittersRCV002838666

NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)

SNV
Germline

Chr2:178533126

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349414168

rs_2468480145

1 SubmittersRCV002838668

NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)

SNV
Germline

Chr2:178651950

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349458461

rs_761027873

1 SubmittersRCV002856663

NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)

SNV
Germline

Chr2:178599209

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349529042

rs_2469883983

1 SubmittersRCV002846763

NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)

SNV
Germline

Chr2:178601019

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349536912

rs_2053286212

1 SubmittersRCV002833486

NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)

SNV
Germline

Chr2:178546847

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349472401

rs_2469068787

1 SubmittersRCV002870849

NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)

SNV
Germline

Chr2:178604173

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349551963

rs_2470121680

2 SubmittersRCV002851153 RCV003988029

NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)

SNV
Germline

Chr2:178597737

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349521385

rs_879000172

1 SubmittersRCV002843502

NM_001267550.2(TTN):c.31679-1G>A

SNV
Germline

Chr2:178692100

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349559334

rs_2474507585

1 SubmittersRCV002843860

NM_001267550.2(TTN):c.14307G>A (p.Glu4769=)

SNV
Germline

Chr2:178738146

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002434

rs_773445915

2 SubmittersRCV002857015 RCV003138368

NM_001267550.2(TTN):c.46304+1G>T

SNV
Germline

Chr2:178620216

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349627772

rs_2470992924

1 SubmittersRCV002857556

NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)

SNV
Germline

Chr2:178564327

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349577740

rs_2468202435

1 SubmittersRCV002866178

NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)

SNV
Germline

Chr2:178620943

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349632734

rs_2471023807

1 SubmittersRCV002857573

NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)

SNV
Germline

Chr2:178579375

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349423269

rs_2468877626

1 SubmittersRCV002852723

NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)

SNV
Germline

Chr2:178582063

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349429419

rs_2469011763

1 SubmittersRCV002863372

NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)

SNV
Germline

Chr2:178566530

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349594586

rs_2468289077

1 SubmittersRCV002889588

NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)

SNV
Germline

Chr2:178589317

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464901

rs_2469387281

1 SubmittersRCV002894209

NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)

SNV
Germline

Chr2:178575215

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660201

rs_2468665074

1 SubmittersRCV002881500

NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)

SNV
Germline

Chr2:178624696

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349641146

rs_2471169863

1 SubmittersRCV002857450

NM_001267550.2(TTN):c.9472-1G>T

SNV
Germline

Chr2:178766613

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349675090

rs_2090472968

2 SubmittersRCV002847711 RCV003481339

NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)

SNV
Germline

Chr2:178600977

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349536555

rs_2469979316

1 SubmittersRCV002852458

NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)

SNV
Germline

Chr2:178572486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349637865

rs_2468538445

1 SubmittersRCV002853282

NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)

SNV
Germline

Chr2:178621287

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349634546

rs_2058229729

2 SubmittersRCV002853394 RCV006660120

NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)

SNV
Germline

Chr2:178734328

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593683

rs_979660876

1 SubmittersRCV002858632

NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)

SNV
Germline

Chr2:178581631

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428623

rs_1479561157

1 SubmittersRCV002876358

NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)

SNV
Germline

Chr2:178611537

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593502

rs_976705857

1 SubmittersRCV002876410

NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)

SNV
Germline

Chr2:178705338

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349580679

rs_1366790953

1 SubmittersRCV002872083

NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)

SNV
Germline

Chr2:178634600

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349655593

rs_2471552523

1 SubmittersRCV002852381

NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)

SNV
Germline

Chr2:178559740

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349544093

rs_748375797

1 SubmittersRCV002875840

NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)

SNV
Germline

Chr2:178767905

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349675396

rs_2532343902

1 SubmittersRCV002857964

NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)

SNV
Germline

Chr2:178547107

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349474159

rs_2469080679

1 SubmittersRCV002858091

NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)

SNV
Germline

Chr2:178771421

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349678714

rs_2532559338

1 SubmittersRCV002848137

NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)

SNV
Germline

Chr2:178616779

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349612063

rs_2470818553

1 SubmittersRCV002848200

NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)

SNV
Germline

Chr2:178536153

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425333

rs_1691405349

1 SubmittersRCV002853018

NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)

SNV
Germline

Chr2:178541440

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349437089

rs_2468846612

1 SubmittersRCV002871687

NM_001267550.2(TTN):c.669+2T>C

SNV
Germline

Chr2:178799823

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349524621

rs_2534322136

2 SubmittersRCV002848376 RCV006605385

NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)

SNV
Germline

Chr2:178598995

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349527662

rs_2469872185

1 SubmittersRCV002898592

NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)

SNV
Germline

Chr2:178568022

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60991660

rs_752009181

2 SubmittersRCV002898949 RCV003485795

NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)

SNV
Germline

Chr2:178590807

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349478465

rs_2469451911

1 SubmittersRCV002876627

NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)

SNV
Germline

Chr2:178594133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349507890

rs_2469616125

1 SubmittersRCV002876751

NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)

SNV
Germline

Chr2:178544381

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349456843

rs_727505199

2 SubmittersRCV002876843 RCV005772420

NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)

SNV
Germline

Chr2:178587178

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349446396

rs_776495338

1 SubmittersRCV002862581

NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)

SNV
Germline

Chr2:178568527

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349605985

rs_2468367066

1 SubmittersRCV002848038

NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)

SNV
Germline

Chr2:178534911

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349419837

rs_762592218

1 SubmittersRCV002848073

NM_001267550.2(TTN):c.6509-1G>T

SNV
Germline

Chr2:178775203

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349682666

rs_2532794126

1 SubmittersRCV002848082

NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)

SNV
Germline

Chr2:178535486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349421618

rs_2468576682

2 SubmittersRCV002858406 RCV004990888

NM_001267550.2(TTN):c.30223+1G>T

SNV
Germline

Chr2:178704146

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349574107

rs_556408709

1 SubmittersRCV002893849

NM_001267550.2(TTN):c.36364+2T>A

SNV
Germline

Chr2:178664013

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349498829

rs_2472946351

1 SubmittersRCV002881951

NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)

SNV
Germline

Chr2:178533689

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985684

rs_776393529

2 SubmittersRCV002890391 RCV005405941

NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)

SNV
Germline

Chr2:178599392

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349532395

rs_2052670569

2 SubmittersRCV002867841 RCV005288834

NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)

SNV
Germline

Chr2:178583011

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349432644

rs_2469062184

1 SubmittersRCV002894447

NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)

SNV
Germline

Chr2:178705179

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349580118

rs_2475275700

1 SubmittersRCV002894731

NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)

SNV
Germline

Chr2:178542398

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440176

rs_2468889333

1 SubmittersRCV002899909

NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)

SNV
Germline

Chr2:178609439

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579594

rs_2470388671

1 SubmittersRCV002895668

NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)

SNV
Germline

Chr2:178780176

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349482878

rs_2533172691

1 SubmittersRCV002903785

NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)

SNV
Germline

Chr2:178572513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638051

rs_2468539882

1 SubmittersRCV002903788

NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)

SNV
Germline

Chr2:178570237

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349619188

rs_2468442117

1 SubmittersRCV002900341

NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)

SNV
Germline

Chr2:178634500

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655239

rs_2471549126

1 SubmittersRCV002890078

NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)

SNV
Germline

Chr2:178590050

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349470275

rs_2469419056

1 SubmittersRCV002882114

NM_001267550.2(TTN):c.36203-1G>T

SNV
Germline

Chr2:178664538

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349500511

rs_2472996488

1 SubmittersRCV002895301

NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)

SNV
Germline

Chr2:178565135

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349584593

rs_753036492

1 SubmittersRCV002909015

NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)

SNV
Germline

Chr2:178598618

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349524514

rs_2469851258

1 SubmittersRCV002877301

NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)

SNV
Germline

Chr2:178618611

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349621301

rs_2470909796

1 SubmittersRCV002899358

NM_001267550.2(TTN):c.54812-1G>C

SNV
Germline

Chr2:178602591

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547319

rs_1416873295

1 SubmittersRCV002882063

NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)

SNV
Germline

Chr2:178718956

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349500275

rs_2529278072

1 SubmittersRCV002909281

NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)

SNV
Germline

Chr2:178738241

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602586

rs_1311308523

1 SubmittersRCV002937525

NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)

SNV
Germline

Chr2:178527670

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349400878

rs_1457427060

3 SubmittersRCV002904901 RCV003482426 RCV005405945

NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)

SNV
Germline

Chr2:178532603

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349412748

rs_2468458755

1 SubmittersRCV002915004

NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)

SNV
Germline

Chr2:178570267

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349619377

rs_2468443511

1 SubmittersRCV002971167

NM_001267550.2(TTN):c.44154+1G>C

SNV
Germline

Chr2:178630803

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645850

rs_2471401026

1 SubmittersRCV002952894

NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)

SNV
Germline

Chr2:178582008

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349429303

rs_2469009764

1 SubmittersRCV002943778

NM_001267550.2(TTN):c.17461+1G>A

SNV
Germline

Chr2:178731304

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA349572713

rs_747990127

3 SubmittersRCV002954419 RCV003138414 RCV005433289

NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)

SNV
Germline

Chr2:178724361

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349539068

rs_2529622298

1 SubmittersRCV002962175

NM_001267550.2(TTN):c.32096-1G>T

SNV
Germline

Chr2:178688779

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349553770

rs_2071539166

1 SubmittersRCV002949589

NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)

SNV
Germline

Chr2:178650254

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349450440

rs_1203876644

1 SubmittersRCV002963309

NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)

SNV
Germline

Chr2:178537624

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427910

rs_2468678573

1 SubmittersRCV002988762

NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr2:178794545

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516823

rs_1290100739

1 SubmittersRCV002972316

NM_001267550.2(TTN):c.35546-7T>C

SNV
Germline

Chr2:178667728

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997789

rs_373819091

3 SubmittersRCV002993754 RCV005433947 RCV006451305

NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)

SNV
Germline

Chr2:178598055

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523320

rs_2469819993

1 SubmittersRCV003007662

NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)

SNV
Germline

Chr2:178568586

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610034

rs_2468369853

1 SubmittersRCV002972205

NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)

SNV
Germline

Chr2:178607248

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349564879

rs_2470280552

2 SubmittersRCV002999587 RCV006281130

NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)

SNV
Germline

Chr2:178775980

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349445877

rs_773951165

2 SubmittersRCV003030813 RCV004764988

NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)

SNV
Germline

Chr2:178548473

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487471

rs_2469129125

1 SubmittersRCV003018888

NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)

SNV
Germline

Chr2:178557730

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349535169

rs_772121356

1 SubmittersRCV003018775

NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)

SNV
Germline

Chr2:178715649

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349479362

rs_2529117612

1 SubmittersRCV003021038

NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)

SNV
Germline

Chr2:178536405

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349426231

rs_1168878579

3 SubmittersRCV003021527 RCV005301219 RCV006262593

NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)

SNV
Germline

Chr2:178558014

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349537119

rs_2469553543

1 SubmittersRCV003033553

NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)

SNV
Germline

Chr2:178538648

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349430772

rs_2154139241

1 SubmittersRCV003014566

NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)

SNV
Germline

Chr2:178584751

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349436429

rs_2048560568

1 SubmittersRCV003003240

NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)

SNV
Germline

Chr2:178632687

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1995895

rs_372663057

2 SubmittersRCV003005748 RCV004990961

NM_001267550.2(TTN):c.24227-2A>G

SNV
Germline

Chr2:178718975

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2000465

rs_373060681

1 SubmittersRCV003020697

NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)

SNV
Germline

Chr2:178598548

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349523842

rs_1490929702

1 SubmittersRCV003013746

NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)

SNV
Germline

Chr2:178775532

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440841

rs_2092127553

1 SubmittersRCV003030935

NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)

SNV
Germline

Chr2:178560639

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60984655

rs_756499458

2 SubmittersRCV003033395 RCV004764989

NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr2:178784288

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349496805

rs_1234178280

1 SubmittersRCV003028801

NM_001267550.2(TTN):c.8532A>C (p.Ser2844=)

SNV
Germline

Chr2:178770169

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61003543

rs_957431303

2 SubmittersRCV003034202 RCV003138447

NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)

SNV
Germline

Chr2:178553216

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516876

rs_2469317919

1 SubmittersRCV003042132

NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)

SNV
Germline

Chr2:178547160

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349474776

rs_2469082011

1 SubmittersRCV003046126

NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)

SNV
Germline

Chr2:178532971

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413826

rs_2154134774

1 SubmittersRCV003024151

NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)

SNV
Germline

Chr2:178572134

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636178

rs_2468524360

1 SubmittersRCV003028694

NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)

SNV
Germline

Chr2:178580494

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425571

rs_1202934929

1 SubmittersRCV003019718

NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)

SNV
Germline

Chr2:178579707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423643

rs_2468896662

1 SubmittersRCV003038498

NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)

SNV
Germline

Chr2:178573022

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349643934

rs_1261582084

2 SubmittersRCV003031984 RCV004796754

NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)

SNV
Germline

Chr2:178612362

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349598721

rs_2470536930

1 SubmittersRCV003032473

NM_001267550.2(TTN):c.40222+1G>A

SNV
Germline

Chr2:178647063

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441470

rs_1238551111

1 SubmittersRCV003037677

NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)

SNV
Germline

Chr2:178782282

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349486591

rs_2533326832

1 SubmittersRCV003023812

NM_001267550.2(TTN):c.35309-1G>A

SNV
Germline

Chr2:178670296

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513968

rs_1239116046

1 SubmittersRCV003034680

NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)

SNV
Germline

Chr2:178531836

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349410942

rs_2468425141

1 SubmittersRCV003017196

NM_001267550.2(TTN):c.40223-1G>A

SNV
Germline

Chr2:178646560

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441286

rs_2472105562

1 SubmittersRCV003028921

NM_001267550.2(TTN):c.21403+2T>G

SNV
Germline

Chr2:178723854

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349535067

rs_2078872337

2 SubmittersRCV003034370 RCV003232764

NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)

SNV
Germline

Chr2:178545664

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349461556

rs_2469015874

1 SubmittersRCV003039026

NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)

SNV
Germline

Chr2:178684396

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546376

rs_2474151503

1 SubmittersRCV003027497

NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)

SNV
Germline

Chr2:178728689

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60977276

rs_1003952760

1 SubmittersRCV003046851

NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)

SNV
Germline

Chr2:178593976

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349506636

rs_2050845376

1 SubmittersRCV003054030

NM_001267550.2(TTN):c.17182+1G>A

SNV
Germline

Chr2:178731692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2001905

rs_768821549

1 SubmittersRCV003055372

NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)

SNV
Germline

Chr2:178609849

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349584334

rs_2470408475

1 SubmittersRCV003035710

NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)

SNV
Germline

Chr2:178562835

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568426

rs_2468137966

1 SubmittersRCV003043621

NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)

SNV
Germline

Chr2:178692043

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559007

rs_376287951

1 SubmittersRCV003047755

NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)

SNV
Germline

Chr2:178617972

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349617516

rs_374281025

1 SubmittersRCV003055552

NM_001267550.2(TTN):c.49533-1G>C

SNV
Germline

Chr2:178613277

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349602502

rs_2470583786

1 SubmittersRCV003057956

NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)

SNV
Germline

Chr2:178759143

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673611

rs_2531938791

1 SubmittersRCV003035180

NM_001267550.2(TTN):c.39895+2T>C

SNV
Germline

Chr2:178649815

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349447848

rs_1427022532

1 SubmittersRCV003059094

NM_001267550.2(TTN):c.97193-2A>C

SNV
Germline

Chr2:178542565

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349441791

rs_2468894392

1 SubmittersRCV003035526

NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)

SNV
Germline

Chr2:178543231

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445648

rs_2468925527

1 SubmittersRCV003049571

NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)

SNV
Germline

Chr2:178566609

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349596376

rs_2468292526

1 SubmittersRCV003051865

NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)

SNV
Germline

Chr2:178588983

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349460690

rs_1410796140

1 SubmittersRCV003051876

NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)

SNV
Germline

Chr2:178579990

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349424057

rs_2468908754

1 SubmittersRCV003024624

NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)

SNV
Germline

Chr2:178779363

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349477782

rs_2533100772

1 SubmittersRCV003030160

NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)

SNV
Germline

Chr2:178570684

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349625249

rs_1421628949

1 SubmittersRCV003033214

NM_001267550.2(TTN):c.915-2A>G

SNV
Germline

Chr2:178795254

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349520094

rs_2534099563

1 SubmittersRCV003054809

NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)

SNV
Germline

Chr2:178625383

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349641809

rs_2471199350

1 SubmittersRCV003054940

NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)

SNV
Germline

Chr2:178576271

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349666112

rs_2468719258

1 SubmittersRCV003054943

NM_001267550.2(TTN):c.48760+1G>A

SNV
Germline

Chr2:178614846

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608130

rs_1474000709

1 SubmittersRCV003039861

NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)

SNV
Germline

Chr2:178568381

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349605048

rs_2468360387

1 SubmittersRCV003057411

NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)

SNV
Germline

Chr2:178696183

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349566298

rs_756360188

1 SubmittersRCV003036261

NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)

SNV
Germline

Chr2:178568347

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349604823

rs_758386212

3 SubmittersRCV003036295 RCV005631087 RCV006342721

NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)

SNV
Germline

Chr2:178552748

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349513480

rs_2469301824

1 SubmittersRCV003059572

NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)

SNV
Germline

Chr2:178564775

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349581739

rs_1384101598

2 SubmittersRCV003025373 RCV004068707

NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)

SNV
Germline

Chr2:178609385

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349579182

rs_2470386291

2 SubmittersRCV003043997 RCV003485806

NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)

SNV
Germline

Chr2:178632201

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349649369

rs_2471453840

2 SubmittersRCV003064233 RCV005239608

NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)

SNV
Germline

Chr2:178573293

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645190

rs_2468577841

1 SubmittersRCV003058062

NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)

SNV
Germline

Chr2:178532349

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349412120

rs_2468447321

1 SubmittersRCV003044330

NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)

SNV
Germline

Chr2:178572445

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349637558

rs_2468537034

1 SubmittersRCV003036471

NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)

SNV
Germline

Chr2:178530426

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349406699

rs_2468369388

3 SubmittersRCV003040984 RCV003128878 RCV004017959

NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)

SNV
Germline

Chr2:178786132

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349502216

rs_2533566243

1 SubmittersRCV003050088

NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)

SNV
Germline

Chr2:178542444

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440615

rs_2468890840

1 SubmittersRCV003052392

NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)

SNV
Germline

Chr2:178559535

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349542723

rs_779438420

2 SubmittersRCV003045043 RCV004801942

NM_001267550.2(TTN):c.33581-2A>T

SNV
Germline

Chr2:178679684

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349536725

rs_2473903903

1 SubmittersRCV003065936

NM_001267550.2(TTN):c.106546G>T (p.Glu35516Ter)

SNV
Germline

Chr2:178529205

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349404478

rs_1304842966

1 SubmittersRCV003059865

NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter)

SNV
Germline

Chr2:178759156

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349673646

rs_2531939450

1 SubmittersRCV004093009

NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)

SNV
Germline

Chr2:178563244

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349570825

rs_2468154852

2 SubmittersRCV004165135 RCV005215954

NM_001267550.2(TTN):c.35029G>T (p.Glu11677Ter)

SNV
Germline

Chr2:178672169

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349518453

rs_2473466976

1 SubmittersRCV005240698

NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)

SNV
Germline

Chr2:178586656

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349442432

rs_369299712

3 SubmittersRCV003111528 RCV003778676

NM_001267550.2(TTN):c.60607C>T (p.Pro20203Ser)

SNV
Germline

Chr2:178591118

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992470

rs_757129250

2 SubmittersRCV003127005 RCV005405988

NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)

SNV
Germline

Chr2:178640601

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349663928

rs_2471803456

1 SubmittersRCV003225907

NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)

SNV
Germline

Chr2:178670239

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1997844

rs_752662529

4 SubmittersRCV003137292 RCV003388171

NM_001267550.2(TTN):c.22417G>A (p.Val7473Met)

SNV
Germline

Chr2:178722370

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000841

rs_775242103

2 SubmittersRCV003137300 RCV005405999

NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr)

SNV
Germline

Chr2:178579746

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60957093

rs_903308296

2 SubmittersRCV003137311 RCV006651359

NM_001267550.2(TTN):c.88675G>C (p.Ala29559Pro)

SNV
Germline

Chr2:178554672

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA60980071

rs_748038054

3 SubmittersRCV003137319 RCV003487058 RCV004538909

NM_001267550.2(TTN):c.21947T>G (p.Leu7316Arg)

SNV
Germline

Chr2:178723060

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000925

rs_745745237

2 SubmittersRCV003137429 RCV005406000

NM_001267550.2(TTN):c.28561C>T (p.Gln9521Ter)

SNV
Germline

Chr2:178709758

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349591865

rs_1225914438

2 SubmittersRCV003137430 RCV005215982

NM_001267550.2(TTN):c.45739A>C (p.Ile15247Leu)

SNV
Germline

Chr2:178620871

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60993739

rs_373857517

2 SubmittersRCV003137453 RCV005406001

NM_001267550.2(TTN):c.2626A>G (p.Thr876Ala)

SNV
Germline

Chr2:178784219

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349496109

rs_1337556254

2 SubmittersRCV003137454 RCV003487059

NM_001267550.2(TTN):c.19101G>T (p.Lys6367Asn)

SNV
Germline

Chr2:178728937

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001476

rs_769617600

2 SubmittersRCV003137458 RCV005628378

NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile)

SNV
Germline

Chr2:178770523

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004622

rs_769822096

3 SubmittersRCV003139131 RCV003487060

NM_001267550.2(TTN):c.56962+2T>G

SNV
Germline

Chr2:178598746

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349524892

rs_1011076278

1 SubmittersRCV003132997

NM_001267550.2(TTN):c.51136+1G>C

SNV
Germline

Chr2:178610992

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349588513

rs_2470469526

1 SubmittersRCV003133025

NM_001267550.2(TTN):c.64821G>A (p.Trp21607Ter)

SNV
Germline

Chr2:178584820

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349436677

rs_2469155739

1 SubmittersRCV003131811

NM_001267550.2(TTN):c.100172-1G>A

SNV
Germline

Chr2:178536576

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349426602

rs_2154137558

1 SubmittersRCV003133046

NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)

SNV
Germline

Chr2:178729343

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349559599

rs_1440628720

2 SubmittersRCV003143201 RCV005227900

NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val)

SNV
Germline

Chr2:178722276

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349525321

rs_2529481421

3 SubmittersRCV003143265 RCV005405993 RCV003150589

NM_001267550.2(TTN):c.43717A>T (p.Met14573Leu)

SNV
Germline

Chr2:178632177

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349649236

rs_755610701

2 SubmittersRCV003136950 RCV005405994

NM_001267550.2(TTN):c.62029A>G (p.Ile20677Val)

SNV
Germline

Chr2:178589696

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA349466430

rs_2469405024

3 SubmittersRCV003136967 RCV003487057 RCV004690391

NM_001267550.2(TTN):c.30447C>A (p.Val10149=)

SNV
Germline

Chr2:178702232

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430278971

rs_1308539880

2 SubmittersRCV003136975 RCV003778812

NM_001267550.2(TTN):c.93305A>G (p.Tyr31102Cys)

SNV
Germline

Chr2:178548321

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1987325

rs_374084427

3 SubmittersRCV003136986 RCV005399267 RCV005405995

NM_001267550.2(TTN):c.25759G>A (p.Glu8587Lys)

SNV
Germline

Chr2:178715655

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000150

rs_760340908

2 SubmittersRCV003137025

NM_001267550.2(TTN):c.94064C>T (p.Ala31355Val)

SNV
Germline

Chr2:178547562

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987204

rs_370666551

3 SubmittersRCV003137028

NM_001267550.2(TTN):c.97776C>A (p.Ile32592=)

SNV
Germline

Chr2:178541301

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA430096086

rs_375166890

2 SubmittersRCV003137049 RCV003150591

NM_001267550.2(TTN):c.32392+8G>A

SNV
Germline

Chr2:178685510

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2580065100

rs_895881881

2 SubmittersRCV003137051 RCV006561070

NM_001267550.2(TTN):c.19441C>A (p.Pro6481Thr)

SNV
Germline

Chr2:178728383

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001395

rs_73038342

2 SubmittersRCV003137071

NM_001267550.2(TTN):c.31660G>A (p.Glu10554Lys)

SNV
Germline

Chr2:178692515

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349559537

rs_1352006092

2 SubmittersRCV003137077 RCV005405996

NM_001267550.2(TTN):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr2:178794992

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006130

rs_779169850

2 SubmittersRCV003137083 RCV006651357

NM_001267550.2(TTN):c.14950G>A (p.Val4984Met)

SNV
Germline

Chr2:178734974

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60981603

rs_903648091

2 SubmittersRCV003137107 RCV005405998

NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)

SNV
Germline

Chr2:178724355

Conflicting classifications of pathogenicity

Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001093

rs_773611280

4 SubmittersRCV003137110 RCV003479503 RCV004529248

NM_001267550.2(TTN):c.25801G>T (p.Val8601Phe)

SNV
Germline

Chr2:178715613

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2000142

rs_184812963

3 SubmittersRCV003137111 RCV003150592 RCV006687727

NM_001267550.2(TTN):c.24635C>A (p.Ser8212Ter)

SNV
Germline

Chr2:178718471

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349497868

rs_2529260563

2 SubmittersRCV003137113 RCV005209596

NM_001267550.2(TTN):c.54539A>G (p.Lys18180Arg)

SNV
Germline

Chr2:178604148

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349551721

rs_1283224972

2 SubmittersRCV003137201 RCV006651358

NM_001267550.2(TTN):c.54031A>G (p.Thr18011Ala)

SNV
Germline

Chr2:178605146

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1993711

rs_766446275

2 SubmittersRCV003137253 RCV005628377

NM_001267550.2(TTN):c.69083C>T (p.Thr23028Met)

SNV
Germline

Chr2:178577252

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1990990

rs_754823057

2 SubmittersRCV003142902 RCV003389270

NM_001267550.2(TTN):c.33249G>T (p.Val11083=)

SNV
Germline

Chr2:178681170

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998402

rs_773979636

3 SubmittersRCV003142954 RCV006561064

NM_001267550.2(TTN):c.83936A>G (p.Gln27979Arg)

SNV
Germline

Chr2:178562196

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988854

rs_755935124

2 SubmittersRCV003142987 RCV003487056

NM_001267550.2(TTN):c.90238G>A (p.Ala30080Thr)

SNV
Germline

Chr2:178552662

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1987814

rs_753375022

3 SubmittersRCV003143055 RCV005405990

NM_001267550.2(TTN):c.23147G>A (p.Gly7716Asp)

SNV
Germline

Chr2:178720615

Conflicting classifications of pathogenicity

Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2000692

rs_751284978

4 SubmittersRCV003143061 RCV004538908 RCV006651354

NM_001267550.2(TTN):c.56948C>T (p.Ala18983Val)

SNV
Germline

Chr2:178598762

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1993150

rs_774502532

2 SubmittersRCV003143069 RCV006651355

NM_001267550.2(TTN):c.57796A>G (p.Met19266Val)

SNV
Germline

Chr2:178595558

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992995

rs_372963343

2 SubmittersRCV003143071 RCV003150587

NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)

SNV
Germline

Chr2:178542935

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349444377

rs_1474585549

2 SubmittersRCV003143083 RCV003150588

NM_001267550.2(TTN):c.25639+1G>T

SNV
Germline

Chr2:178717094

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349483500

rs_1220111705

3 SubmittersRCV003143090 RCV006561067

NM_001267550.2(TTN):c.25633G>A (p.Val8545Ile)

SNV
Germline

Chr2:178717101

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349483569

rs_1246177699

3 SubmittersRCV003143121 RCV006651356

NM_001267550.2(TTN):c.20376G>T (p.Val6792=)

SNV
Germline

Chr2:178725946

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430291667

rs_2529711754

2 SubmittersRCV003143128 RCV006561068

NM_001267550.2(TTN):c.31427-1G>T

SNV
Germline

Chr2:178694009

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349562124

rs_2474592385

2 SubmittersRCV003143141 RCV006561069

NM_001267550.2(TTN):c.84892C>T (p.Arg28298Trp)

SNV
Germline

Chr2:178561240

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988724

rs_779581886

2 SubmittersRCV003143151 RCV005405991

NM_001267550.2(TTN):c.86822-8T>G

SNV
Germline

Chr2:178558645

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2577170564

rs_2469577439

2 SubmittersRCV003147843 RCV003147847 RCV003147848 RCV003147845 RCV003147844 RCV003147846 RCV003778885

NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)

SNV
Germline

Chr2:178548583

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA60974075

rs_1006806821

2 SubmittersRCV003148106 RCV003148107 RCV003148108 RCV003148104 RCV003148103 RCV003148105 RCV005628379

NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)

SNV
Germline

Chr2:178574588

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA61000863

rs_1026649081

2 SubmittersRCV003148156 RCV003148157 RCV003148158 RCV003148154 RCV003148153 RCV003148155 RCV005628380

NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)

SNV
Unknown

Chr2:178654769

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349476291

rs_786205309

1 SubmittersRCV003148338

NM_001267550.2(TTN):c.98989+2T>C

SNV
Unknown

Chr2:178538944

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349431205

rs_2468744516

1 SubmittersRCV003148455

NM_001267550.2(TTN):c.57740G>A (p.Gly19247Asp)

SNV
Germline

Chr2:178595614

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349514896

rs_1222912274

2 SubmittersRCV003150636 RCV003435986

NM_001267550.2(TTN):c.2180A>G (p.Tyr727Cys)

SNV
Germline

Chr2:178786038

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349501418

rs_1338615939

2 SubmittersRCV003150655 RCV004593218

NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)

SNV
Germline

Chr2:178598004

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349522922

rs_2469818121

2 SubmittersRCV003150721 RCV004764992

NM_001267550.2(TTN):c.48212C>G (p.Ser16071Ter)

SNV
Germline

Chr2:178616579

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349611678

rs_794727332

1 SubmittersRCV003150725

NM_001267550.2(TTN):c.8219G>A (p.Trp2740Ter)

SNV
Germline

Chr2:178770573

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349677876

rs_2532506251

1 SubmittersRCV003150741

NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)

SNV
Unknown

Chr2:178601419

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349540134

rs_2470001163

1 SubmittersRCV003152868

NM_001267550.2(TTN):c.39709+1G>A

SNV
Germline

Chr2:178650750

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349452480

rs_1576940155

3 SubmittersRCV003778932 RCV005240717 RCV006435325

NM_001267550.2(TTN):c.35875+2T>C

SNV
Germline

Chr2:178666822

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1997717

rs_780842435

1 SubmittersRCV003159488

NM_001267550.2(TTN):c.43480+2T>C

SNV
Germline

Chr2:178632524

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349650457

rs_1177799464

2 SubmittersRCV003165022 RCV005227917

NM_001267550.2(TTN):c.50552-1G>A

SNV
Germline

Chr2:178611678

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349595354

rs_2470501907

2 SubmittersRCV003187545 RCV003779528

NM_001267550.2(TTN):c.669+1G>T

SNV
Germline

Chr2:178799824

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349524639

rs_1574982376

2 SubmittersRCV003187561 RCV003779530

NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)

SNV
Germline

Chr2:178563662

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349573367

rs_2468175075

2 SubmittersRCV003187578 RCV003779531

NM_001267550.2(TTN):c.99571C>T (p.Gln33191Ter)

SNV
Germline

Chr2:178537636

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349427932

rs_2468679007

1 SubmittersRCV003187615

NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)

SNV
Germline

Chr2:178549328

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349493768

rs_2469158014

3 SubmittersRCV003779537 RCV003187622 RCV006697725

NM_001267550.2(TTN):c.76940C>G (p.Ser25647Ter)

SNV
Germline

Chr2:178569192

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349613246

rs_2468395152

1 SubmittersRCV003187627

NM_001267550.2(TTN):c.94452T>G (p.Tyr31484Ter)

SNV
Germline

Chr2:178547073

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349473827

rs_763668385

1 SubmittersRCV003187630

NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)

SNV
Germline

Chr2:178612928

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349600997

rs_2056613965

2 SubmittersRCV003187636 RCV003779541

NM_001267550.2(TTN):c.83284A>T (p.Arg27762Ter)

SNV
Germline

Chr2:178562848

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA1988946

rs_781734969

1 SubmittersRCV003187639

NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)

SNV
Germline

Chr2:178531862

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349411003

rs_2468426201

2 SubmittersRCV003187644 RCV006561158

NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)

SNV
Germline

Chr2:178567036

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599733

rs_2468308520

1 SubmittersRCV003219198

NM_001267550.2(TTN):c.99052C>T (p.Gln33018Ter)

SNV
Germline

Chr2:178538777

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349431063

rs_1384790834

1 SubmittersRCV003223057

NM_001267550.2(TTN):c.62465C>G (p.Thr20822Ser)

SNV
Germline

Chr2:178589260

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992224

rs_376352599

2 SubmittersRCV003223060 RCV003487061

NM_001267550.2(TTN):c.107641G>T (p.Glu35881Ter)

SNV
Germline

Chr2:178527485

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349399842

rs_2468245602

1 SubmittersRCV003224036

NM_001267550.2(TTN):c.100281C>G (p.Tyr33427Ter)

SNV
Germline

Chr2:178536466

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349426366

rs_373085562

1 SubmittersRCV003227273

NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)

SNV
Germline

Chr2:178560638

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349553271

rs_1703274205

3 SubmittersRCV003227365 RCV003779823 RCV004686771

NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)

SNV
Germline

Chr2:178549721

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349495106

rs_2469173135

1 SubmittersRCV003228220

NM_001267550.2(TTN):c.48228G>A (p.Trp16076Ter)

SNV
Germline

Chr2:178616563

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA60989399

rs_867476489

1 SubmittersRCV003228534

NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)

SNV
Germline

Chr2:178799866

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2006268

rs_777677253

3 SubmittersRCV003228575 RCV004775365 RCV005406012

NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)

SNV
Germline

Chr2:178552059

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349506248

rs_2469276072

1 SubmittersRCV003228868

NM_001267550.2(TTN):c.9703+1G>A

SNV
Germline

Chr2:178766380

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349674577

rs_2532265927

1 SubmittersRCV003228875

NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)

SNV
Germline

Chr2:178528307

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349401277

rs_2468281737

1 SubmittersRCV003228876

NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)

SNV
Germline

Chr2:178530783

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349407651

rs_766117970

1 SubmittersRCV003228879

NM_001267550.2(TTN):c.96628G>T (p.Glu32210Ter)

SNV
Germline

Chr2:178543345

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349446386

rs_2468929054

1 SubmittersRCV003229299

NM_001267550.2(TTN):c.87706+1G>C

SNV
Germline

Chr2:178557647

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349534701

rs_2469539180

2 SubmittersRCV003233298 RCV004764993

NM_001267550.2(TTN):c.86821+1G>C

SNV
Germline

Chr2:178559310

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349541254

rs_1702741860

2 SubmittersRCV003233299 RCV004764994

NM_001267550.2(TTN):c.72431G>A (p.Trp24144Ter)

SNV
Germline

Chr2:178573701

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349647212

rs_2468596371

1 SubmittersRCV003233310

NM_001267550.2(TTN):c.70045G>T (p.Glu23349Ter)

SNV
Germline

Chr2:178576087

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349665237

rs_397517682

1 SubmittersRCV003233311

NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter)

SNV
Germline

Chr2:178631105

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349646742

rs_2471414967

1 SubmittersRCV003233324

NM_001267550.2(TTN):c.14334T>G (p.Tyr4778Ter)

SNV
Germline

Chr2:178738119

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349601915

rs_2530525965

1 SubmittersRCV003233325

NM_001267550.2(TTN):c.8023A>T (p.Arg2675Ter)

SNV
Germline

Chr2:178771304

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349678456

rs_375223745

1 SubmittersRCV003233326

NM_001267550.2(TTN):c.3780T>G (p.Tyr1260Ter)

SNV
Germline

Chr2:178779412

Likely pathogenic

Primary dilated cardiomyopathy

No Assertion Criteria Provided

CA349478609

rs_956832626

1 SubmittersRCV003233327

NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter)

SNV
Germline

Chr2:178532158

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349411687

rs_548677252

2 SubmittersRCV003233335 RCV004764996

NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter)

SNV
Germline

Chr2:178542420

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349440402

rs_2468889895

2 SubmittersRCV003233338 RCV004764997

NM_001267550.2(TTN):c.55361C>T (p.Thr18454Ile)

SNV
Germline

Chr2:178601729

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349542007

rs_1171368715

3 SubmittersRCV003236323 RCV003487062 RCV005003040

NM_001267550.2(TTN):c.7694G>A (p.Trp2565Ter)

SNV
Germline

Chr2:178773270

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349679196

rs_2532657662

1 SubmittersRCV003237013

NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)

SNV
Germline

Chr2:178540194

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA60965970

rs_879097896

4 SubmittersRCV003310301 RCV003777131 RCV004017977 RCV004529618

NM_001267550.2(TTN):c.11722A>T (p.Lys3908Ter)

SNV
Germline

Chr2:178741511

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349619762

rs_2530723915

1 SubmittersRCV003293585

NM_001267550.2(TTN):c.47779G>T (p.Gly15927Ter)

SNV
Germline

Chr2:178617216

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349613369

rs_2057501802

1 SubmittersRCV003293586

NM_001267550.2(TTN):c.77546C>A (p.Ser25849Ter)

SNV
Germline

Chr2:178568586

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349610035

rs_2468369853

1 SubmittersRCV003293590

NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter)

SNV
Germline

Chr2:178776330

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349450892

rs_794729576

1 SubmittersRCV003306528

NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)

SNV
Germline

Chr2:178539012

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349431356

rs_2468746262

2 SubmittersRCV003306530 RCV004555910

NM_001267550.2(TTN):c.45283G>T (p.Glu15095Ter)

SNV
Germline

Chr2:178621541

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349635315

rs_2154212024

1 SubmittersRCV003306532

NM_001267550.2(TTN):c.49338T>A (p.Tyr16446Ter)

SNV
Germline

Chr2:178614059

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349605201

rs_2470642551

1 SubmittersRCV003306539

NM_001267550.2(TTN):c.101997G>A (p.Trp33999Ter)

SNV
Germline

Chr2:178534618

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349418600

rs_764821435

2 SubmittersRCV003293617 RCV006705817

NM_001267550.2(TTN):c.94286G>A (p.Trp31429Ter)

SNV
Germline

Chr2:178547239

Likely pathogenic

Titinopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349475705

rs_2469084389

2 SubmittersRCV003312106 RCV006561397

NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)

SNV
Germline

Chr2:178552405

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349510299

rs_761010373

3 SubmittersRCV003315109 RCV003777286

NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)

SNV
Unknown

Chr2:178590277

Likely pathogenic

Dilated cardiomyopathy 1A

No Assertion Criteria Provided

CA1992369

rs_748693257

1 SubmittersRCV003482920

NM_001267550.2(TTN):c.18208G>T (p.Glu6070Ter)

SNV
Germline

Chr2:178730192

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349564565

rs_1238374094

1 SubmittersRCV005414290

NM_001267550.2(TTN):c.11000A>T (p.Gln3667Leu)

SNV
Germline

Chr2:178756476

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA2004007

rs_770140533

2 SubmittersRCV003317974

NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)

SNV
Germline

Chr2:178533662

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349415703

rs_2468502856

1 SubmittersRCV003485874

NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)

SNV
Germline

Chr2:178532905

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349413680

rs_2468470030

1 SubmittersRCV003485875

NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)

SNV
Germline

Chr2:178531364

Likely pathogenic

Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349409170

rs_1257016169

2 SubmittersRCV003485876 RCV005505646

NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)

SNV
Germline

Chr2:178616486

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349611367

rs_2057370325

2 SubmittersRCV003485878

NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)

SNV
Germline

Chr2:178578943

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349421699

rs_1245154926

1 SubmittersRCV003485883

NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)

SNV
Germline

Chr2:178771310

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349678468

rs_2532553576

1 SubmittersRCV003485886

NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)

SNV
Germline

Chr2:178561163

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349556975

rs_1227124053

1 SubmittersRCV003485887

NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)

SNV
Germline

Chr2:178559992

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349546294

rs_532818379

1 SubmittersRCV003485888

NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)

SNV
Germline

Chr2:178553556

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

CA349518545

rs_963964094

1 SubmittersRCV003485889

NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)

SNV
Germline

Chr2:178572382

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349637178

rs_1708542756

2 SubmittersRCV003319928 RCV003777314

NM_001267550.2(TTN):c.47268T>A (p.Tyr15756Ter)

SNV
Germline

Chr2:178618190

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349618597

rs_767648160

1 SubmittersRCV003321290

NM_001267550.2(TTN):c.28513G>T (p.Glu9505Ter)

SNV
Germline

Chr2:178709806

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349592345

rs_2076393894

2 SubmittersRCV003324949 RCV006561421

NM_001267550.2(TTN):c.12618A>G (p.Leu4206=)

SNV
Germline

Chr2:178740615

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430296197

rs_2082322839

3 SubmittersRCV003324965 RCV005227990 RCV004992594

NM_001267550.2(TTN):c.8117-1G>T

SNV
Germline

Chr2:178770676

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349678094

rs_2532510791

2 SubmittersRCV003327068 RCV005216057

NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)

SNV
Germline

Chr2:178548955

Likely pathogenic

Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Single Submitter

CA349491996

rs_2469147609

1 SubmittersRCV003330302

NM_001267550.2(TTN):c.99661A>G (p.Ile33221Val)

SNV
Germline

Chr2:178537546

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60961649

rs_938263270

2 SubmittersRCV003332553 RCV003487067

NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)

SNV
Germline

Chr2:178569119

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349612934

rs_397517707

1 SubmittersRCV003335802

NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)

SNV
Germline

Chr2:178802204

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349530672

rs_1347415564

2 SubmittersRCV003360611 RCV005228016

NM_001267550.2(TTN):c.91416C>T (p.Asn30472=)

SNV
Germline

Chr2:178551115

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430103799

rs_2469236276

2 SubmittersRCV003360566 RCV006561456

NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)

SNV
Germline

Chr2:178553933

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349520398

rs_762411631

2 SubmittersRCV003360576 RCV003777463

NM_001267550.2(TTN):c.57263-2A>G

SNV
Germline

Chr2:178597821

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349522170

rs_2469806182

2 SubmittersRCV003360583 RCV006561458

NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)

SNV
Germline

Chr2:178782375

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349487542

rs_2092857726

2 SubmittersRCV003358359 RCV005228015

NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)

SNV
Germline

Chr2:178569142

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349613017

rs_1707186504

2 SubmittersRCV003360587 RCV003777466

NM_001267550.2(TTN):c.68370G>A (p.Trp22790Ter)

SNV
Germline

Chr2:178578145

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349672845

rs_2468816812

1 SubmittersRCV003360593

NM_001267550.2(TTN):c.80403G>A (p.Trp26801Ter)

SNV
Germline

Chr2:178565729

Likely pathogenic

TTN-related disorder

Criteria Provided
Single Submitter

CA349588924

rs_2468257592

1 SubmittersRCV004527944

NM_001267550.2(TTN):c.12523C>T (p.Gln4175Ter)

SNV
Germline

Chr2:178740710

Likely pathogenic

TTN-related disorder

Criteria Provided
Single Submitter

CA349614760

rs_2530677969

1 SubmittersRCV004531641

NM_001267550.2(TTN):c.30754+1G>A

SNV
Germline

Chr2:178698842

Likely pathogenic

TTN-related disorder

Criteria Provided
Single Submitter

CA349566623

rs_914288774

1 SubmittersRCV004534291

NM_001267550.2(TTN):c.7495A>T (p.Lys2499Ter)

SNV
Germline

Chr2:178773561

Likely pathogenic

TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349680120

rs_2532675283

2 SubmittersRCV004529298 RCV005406023

NM_001267550.2(TTN):c.51628A>C (p.Lys17210Gln)

SNV
Germline

Chr2:178609795

Conflicting classifications of pathogenicity

TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA349583757

rs_2470406584

2 SubmittersRCV004538988 RCV005406022

NM_001267550.2(TTN):c.71747C>G (p.Ser23916Ter)

SNV
Germline

Chr2:178574385

Likely pathogenic

TTN-related disorder

Criteria Provided
Single Submitter

CA349651123

rs_1283305854

1 SubmittersRCV004527983

NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)

SNV
Germline

Chr2:178578893

Likely pathogenic

TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349421469

rs_895744220

4 SubmittersRCV004531550 RCV005216082 RCV005251360 RCV005774601

NM_001267550.2(TTN):c.32806+7T>G

SNV
Germline

Chr2:178683992

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2662145336

rs_745453087

2 SubmittersRCV003429427 RCV006561623

NM_001267550.2(TTN):c.29954C>T (p.Thr9985Ile)

SNV
Germline

Chr2:178704518

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349576785

rs_1339300021

2 SubmittersRCV003429430 RCV006651434

NM_001267550.2(TTN):c.23954C>T (p.Pro7985Leu)

SNV
Germline

Chr2:178719436

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000526

rs_746422101

2 SubmittersRCV003427164 RCV005406034

NM_001267550.2(TTN):c.18541C>T (p.Arg6181Ter)

SNV
Germline

Chr2:178729712

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001606

rs_775209602

2 SubmittersRCV003441225 RCV005216107

NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)

SNV
Unknown

Chr2:178562402

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

CA349564681

rs_2469726985

1 SubmittersRCV003455846

NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)

SNV
Germline

Chr2:178704609

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349577634

rs_2075564475

2 SubmittersRCV003458186 RCV003778503

NM_001267550.2(TTN):c.67543G>T (p.Glu22515Ter)

SNV
Germline

Chr2:178579654

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349423528

rs_2468894658

2 SubmittersRCV003457306 RCV006561666

NM_001267550.2(TTN):c.63382A>T (p.Lys21128Ter)

SNV
Germline

Chr2:178588025

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA349453158

rs_2049409571

1 SubmittersRCV003457307

NM_001267550.2(TTN):c.87997A>G (p.Ile29333Val)

SNV
Germline

Chr2:178557265

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA349532503

rs_1701876010

2 SubmittersRCV003479611

NM_001267550.2(TTN):c.39295+1G>C

SNV
Germline

Chr2:178652095

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349458980

rs_2063099465

2 SubmittersRCV003779194 RCV005414294

NM_001267550.2(TTN):c.31348+1G>A

SNV
Germline

Chr2:178694828

Likely pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

CA349562899

rs_2073306650

1 SubmittersRCV005414295

NM_001267550.2(TTN):c.19264G>A (p.Gly6422Arg)

SNV
Germline

Chr2:178728662

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001435

rs_774524508

3 SubmittersRCV003481655 RCV005406041

NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)

SNV
Germline

Chr2:178694623

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60991652

rs_1005082526

2 SubmittersRCV003482584 RCV003779223

NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)

SNV
Germline

Chr2:178613171

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60986805

rs_7355450

2 SubmittersRCV003482587 RCV003779224

NM_001267550.2(TTN):c.2423G>A (p.Arg808His)

SNV
Germline

Chr2:178785690

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349499012

rs_1423076539

2 SubmittersRCV003491720 RCV005406042

NM_001267550.2(TTN):c.23165A>G (p.Gln7722Arg)

SNV
Germline

Chr2:178720597

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349515282

rs_2529366737

2 SubmittersRCV003487098 RCV003491789

NM_001267550.2(TTN):c.1521C>G (p.His507Gln)

SNV
Germline

Chr2:178793419

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006032

rs_372875660

2 SubmittersRCV003487122 RCV004790575

NM_001267550.2(TTN):c.34953A>G (p.Lys11651=)

SNV
Germline

Chr2:178672245

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430278874

rs_1419763553

2 SubmittersRCV003487132 RCV003779266

NM_001267550.2(TTN):c.53002+2T>G

SNV
Germline

Chr2:178607783

Likely pathogenic

Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349568987

rs_1245385099

2 SubmittersRCV003487143 RCV006664065

NM_001267550.2(TTN):c.5113T>C (p.Phe1705Leu)

SNV
Germline

Chr2:178776751

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349456343

rs_2092267612

2 SubmittersRCV003487147 RCV005230516

NM_001267550.2(TTN):c.65837C>G (p.Ser21946Ter)

SNV
Germline

Chr2:178582966

Pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA60960668

rs_775504996

1 SubmittersRCV003487159

NM_001267550.2(TTN):c.6508+10A>G

SNV
Germline

Chr2:178775346

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005033

rs_772518653

2 SubmittersRCV003487167 RCV006561734

NM_001267550.2(TTN):c.8056A>G (p.Ile2686Val)

SNV
Germline

Chr2:178771271

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA61004409

rs_756935554

2 SubmittersRCV003487184 RCV005407168

NM_001267550.2(TTN):c.85835C>A (p.Ser28612Ter)

SNV
Germline

Chr2:178560297

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349547708

rs_2469651503

1 SubmittersRCV003487185

NM_001267550.2(TTN):c.9571C>T (p.Gln3191Ter)

SNV
Germline

Chr2:178766513

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349674862

rs_33997263

1 SubmittersRCV003487199

NM_001267550.2(TTN):c.101001T>A (p.Tyr33667Ter)

SNV
Germline

Chr2:178535614

Likely pathogenic

Cardiomyopathy

Criteria Provided
Single Submitter

CA349422102

rs_2468581293

1 SubmittersRCV003487200

NM_001267550.2(TTN):c.11311+3397G>C

SNV
Germline

Chr2:178749727

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA2003523

rs_747202772

2 SubmittersRCV003489569

NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)

SNV
Germline

Chr2:178774418

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681698

rs_1397187132

1 SubmittersRCV003785559

NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)

SNV
Germline

Chr2:178598777

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349525329

rs_1338637317

1 SubmittersRCV003785572

NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)

SNV
Germline

Chr2:178739787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607914

rs_1574070639

1 SubmittersRCV003783531

NM_001267550.2(TTN):c.6790+1G>T

SNV
Germline

Chr2:178774920

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681966

rs_2532776079

2 SubmittersRCV003781838 RCV004767462

NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)

SNV
Germline

Chr2:178538837

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349431193

rs_747243608

3 SubmittersRCV003782043 RCV005774640 RCV005412596

NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)

SNV
Germline

Chr2:178547088

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349473936

rs_1697532441

3 SubmittersRCV003796002 RCV005414711 RCV006699491

NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)

SNV
Germline

Chr2:178573316

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645353

rs_2468579514

1 SubmittersRCV003782920

NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)

SNV
Germline

Chr2:178711187

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349441327

rs_2528811007

2 SubmittersRCV003782959 RCV005412593

NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)

SNV
Germline

Chr2:178571052

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349629146

rs_2468476344

1 SubmittersRCV003782968

NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)

SNV
Germline

Chr2:178577010

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA61004357

rs_727503571

1 SubmittersRCV003783059

NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)

SNV
Germline

Chr2:178554034

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349521162

rs_2469351716

2 SubmittersRCV003783302 RCV004366510

NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)

SNV
Germline

Chr2:178590435

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349474056

rs_2049960403

1 SubmittersRCV003780987

NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)

SNV
Germline

Chr2:178529960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1985093

rs_768786354

1 SubmittersRCV003781364

NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)

SNV
Germline

Chr2:178705236

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349580378

rs_2475280421

1 SubmittersRCV003789865

NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)

SNV
Germline

Chr2:178616610

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611796

rs_2470808380

1 SubmittersRCV003789921

NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)

SNV
Germline

Chr2:178667665

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349509763

rs_2473203258

1 SubmittersRCV003795506

NM_001267550.2(TTN):c.39711A>G (p.Val13237=)

SNV
Germline

Chr2:178650270

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA430104979

rs_2472288529

2 SubmittersRCV003795660 RCV004701832

NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)

SNV
Germline

Chr2:178531752

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985344

rs_768740635

2 SubmittersRCV003793304 RCV005406058

NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)

SNV
Germline

Chr2:178609397

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579311

rs_2470387049

1 SubmittersRCV003793340

NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)

SNV
Germline

Chr2:178636165

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660229

rs_749356221

1 SubmittersRCV003779398

NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)

SNV
Germline

Chr2:178535428

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421380

rs_772513660

1 SubmittersRCV003779495

NM_001267550.2(TTN):c.56050+1G>A

SNV
Germline

Chr2:178600853

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349535424

rs_1401183537

1 SubmittersRCV003780107

NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)

SNV
Germline

Chr2:178766531

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349674902

rs_2532273575

1 SubmittersRCV003780136

NM_001267550.2(TTN):c.59926+1G>C

SNV
Germline

Chr2:178591977

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349488660

rs_553526525

2 SubmittersRCV003780137 RCV004765002

NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)

SNV
Germline

Chr2:178575431

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349661774

rs_2468678181

1 SubmittersRCV003782695

NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)

SNV
Germline

Chr2:178618346

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349619791

rs_2470897843

2 SubmittersRCV003782696 RCV004765003

NM_001267550.2(TTN):c.67057+1G>A

SNV
Germline

Chr2:178580321

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349424668

rs_2468924341

1 SubmittersRCV003782722

NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)

SNV
Germline

Chr2:178741402

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349619003

rs_2530718128

3 SubmittersRCV003780367 RCV005301366 RCV006264143

NM_001267550.2(TTN):c.30683-1G>A

SNV
Germline

Chr2:178698915

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349566781

rs_74864455

1 SubmittersRCV003788760

NM_001267550.2(TTN):c.52332T>G (p.Arg17444=)

SNV
Germline

Chr2:178608679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994017

rs_373423993

2 SubmittersRCV003788763 RCV004992822

NM_001267550.2(TTN):c.40297+1G>A

SNV
Germline

Chr2:178646484

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440061

rs_568585511

1 SubmittersRCV003788869

NM_001267550.2(TTN):c.2646C>T (p.Pro882=)

SNV
Germline

Chr2:178784199

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005770

rs_760697049

2 SubmittersRCV003788997 RCV006714123

NM_001267550.2(TTN):c.40057+1G>C

SNV
Germline

Chr2:178649247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445560

rs_1221769715

1 SubmittersRCV003787363

NM_001267550.2(TTN):c.35308+1G>A

SNV
Germline

Chr2:178671089

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515182

rs_1423135750

1 SubmittersRCV003787469

NM_001267550.2(TTN):c.7057+1G>C

SNV
Germline

Chr2:178774206

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349681118

rs_763909866

1 SubmittersRCV003792837

NM_001267550.2(TTN):c.45349+1G>T

SNV
Germline

Chr2:178621474

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349635032

rs_2154211977

1 SubmittersRCV003792856

NM_001267550.2(TTN):c.14092+1G>A

SNV
Germline

Chr2:178739140

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349604661

rs_2530589290

1 SubmittersRCV003792857

NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)

SNV
Germline

Chr2:178534074

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349417307

rs_1559033148

1 SubmittersRCV003790339

NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)

SNV
Germline

Chr2:178569777

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349615782

rs_2468420275

2 SubmittersRCV003790449 RCV004721223

NM_001267550.2(TTN):c.43087-9T>C

SNV
Germline

Chr2:178633053

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA2577171488

rs_1414971683

2 SubmittersRCV003788100 RCV005030263

NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)

SNV
Germline

Chr2:178581909

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349429094

rs_2469006402

1 SubmittersRCV003786093

NM_001267550.2(TTN):c.32470+1G>T

SNV
Germline

Chr2:178685252

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547745

rs_2474204665

1 SubmittersRCV003786189

NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)

SNV
Germline

Chr2:178530960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349408207

rs_2468390355

1 SubmittersRCV003786586

NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)

SNV
Germline

Chr2:178615424

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609249

rs_2470738026

1 SubmittersRCV003798212

NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)

SNV
Germline

Chr2:178553663

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349519146

rs_2469336053

2 SubmittersRCV003794038 RCV006249902

NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)

SNV
Germline

Chr2:178593409

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60971340

rs_865994024

1 SubmittersRCV003791596

NM_001267550.2(TTN):c.9472-1G>C

SNV
Germline

Chr2:178766613

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349675088

rs_2090472968

1 SubmittersRCV003794224

NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)

SNV
Germline

Chr2:178776263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349449918

rs_2532861633

1 SubmittersRCV003794626

NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)

SNV
Germline

Chr2:178615668

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609600

rs_2154206912

1 SubmittersRCV003794676

NM_001267550.2(TTN):c.28753+1G>A

SNV
Germline

Chr2:178709565

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1999539

rs_774225594

1 SubmittersRCV003792362

NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)

SNV
Germline

Chr2:178678432

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532312

rs_2473825959

1 SubmittersRCV003792376

NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)

SNV
Germline

Chr2:178532373

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349412169

rs_2468448766

1 SubmittersRCV003792377

NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)

SNV
Germline

Chr2:178551985

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349505641

rs_748302876

1 SubmittersRCV003792418

NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)

SNV
Germline

Chr2:178782963

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349491399

rs_2533377067

1 SubmittersRCV003792545

NM_001267550.2(TTN):c.92152+1G>C

SNV
Germline

Chr2:178549569

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349494362

rs_2469168148

1 SubmittersRCV003807792

NM_001267550.2(TTN):c.97192+1G>C

SNV
Germline

Chr2:178542661

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441902

rs_2468899667

1 SubmittersRCV003807867

NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)

SNV
Germline

Chr2:178564933

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349582717

rs_1315059139

2 SubmittersRCV003807877 RCV005220767

NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)

SNV
Germline

Chr2:178528547

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60950110

rs_944284466

1 SubmittersRCV003807935

NM_001267550.2(TTN):c.48760+1G>C

SNV
Germline

Chr2:178614846

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608128

rs_1474000709

1 SubmittersRCV003808042

NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)

SNV
Germline

Chr2:178781227

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349483598

rs_2533253534

1 SubmittersRCV003808043

NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)

SNV
Germline

Chr2:178534858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349419643

rs_1690729997

1 SubmittersRCV003808094

NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)

SNV
Germline

Chr2:178589316

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464896

rs_2469387223

1 SubmittersRCV003806086

NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)

SNV
Germline

Chr2:178607506

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349567579

rs_2470292240

1 SubmittersRCV003808266

NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)

SNV
Germline

Chr2:178589541

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349465641

rs_2469398533

1 SubmittersRCV003808276

NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)

SNV
Germline

Chr2:178537841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428728

rs_762528879

1 SubmittersRCV003808302

NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)

SNV
Germline

Chr2:178533594

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349415472

rs_2468499757

1 SubmittersRCV003808308

NM_001267550.2(TTN):c.46429+2T>C

SNV
Germline

Chr2:178619986

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626530

rs_1367341478

1 SubmittersRCV003808351

NM_001267550.2(TTN):c.1801-2A>G

SNV
Germline

Chr2:178790117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349507485

rs_2093410241

1 SubmittersRCV003806433

NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)

SNV
Germline

Chr2:178739787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607916

rs_1574070639

1 SubmittersRCV003806620

NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)

SNV
Germline

Chr2:178722360

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526275

rs_1330405287

1 SubmittersRCV003804421

NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)

SNV
Germline

Chr2:178621223

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633949

rs_2471038111

1 SubmittersRCV003804429

NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)

SNV
Germline

Chr2:178537714

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428221

rs_2468681856

1 SubmittersRCV003791108

NM_001267550.2(TTN):c.43214-2A>G

SNV
Germline

Chr2:178632794

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651789

rs_2471477845

1 SubmittersRCV003793707

NM_001267550.2(TTN):c.31762+1G>T

SNV
Germline

Chr2:178692015

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349558819

rs_2072577011

1 SubmittersRCV003791384

NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)

SNV
Germline

Chr2:178633462

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349653424

rs_2471509536

1 SubmittersRCV003805428

NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)

SNV
Germline

Chr2:178565073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349584078

rs_2468231180

1 SubmittersRCV003805429

NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)

SNV
Germline

Chr2:178570993

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628688

rs_1707989337

1 SubmittersRCV003805501

NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)

SNV
Germline

Chr2:178782999

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349491783

rs_2533378945

1 SubmittersRCV003805660

NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)

SNV
Germline

Chr2:178613055

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601559

rs_1193616870

1 SubmittersRCV003805716

NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)

SNV
Germline

Chr2:178618827

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349622632

rs_2470918466

1 SubmittersRCV003805899

NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)

SNV
Germline

Chr2:178573471

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646151

rs_2468587162

1 SubmittersRCV003805911

NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)

SNV
Germline

Chr2:178711260

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349442308

rs_2528816473

1 SubmittersRCV003805937

NM_001267550.2(TTN):c.92-1G>A

SNV
Germline

Chr2:178802342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349531815

rs_2534472226

1 SubmittersRCV003806022

NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)

SNV
Germline

Chr2:178533261

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349414461

rs_1182227611

1 SubmittersRCV003806038

NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)

SNV
Germline

Chr2:178565554

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349587727

rs_1184082030

1 SubmittersRCV003803721

NM_001267550.2(TTN):c.43214-1G>C

SNV
Germline

Chr2:178632793

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651782

rs_2471477797

1 SubmittersRCV003803909

NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)

SNV
Germline

Chr2:178571563

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633085

rs_766557412

1 SubmittersRCV003803973

NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)

SNV
Germline

Chr2:178557414

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349533830

rs_2469527431

1 SubmittersRCV003803979

NM_001267550.2(TTN):c.21683-2A>G

SNV
Germline

Chr2:178723326

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532545

rs_2529549823

1 SubmittersRCV003803986

NM_001267550.2(TTN):c.2371-2A>G

SNV
Germline

Chr2:178785744

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349499375

rs_2533541249

1 SubmittersRCV003806303

NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)

SNV
Germline

Chr2:178615339

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349608873

rs_2470732349

2 SubmittersRCV003801579 RCV005407259

NM_001267550.2(TTN):c.7331-1G>A

SNV
Germline

Chr2:178773726

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680524

rs_2532683368

1 SubmittersRCV003801601

NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)

SNV
Germline

Chr2:178665446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504460

rs_2065761154

1 SubmittersRCV003804240

NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)

SNV
Germline

Chr2:178781248

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349483831

rs_1343243319

1 SubmittersRCV003804262

NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)

SNV
Germline

Chr2:178558353

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349539214

rs_2469568618

1 SubmittersRCV003804316

NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)

SNV
Germline

Chr2:178574513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349652182

rs_2468633800

1 SubmittersRCV003798513

NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)

SNV
Germline

Chr2:178704558

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349577098

rs_1319501039

1 SubmittersRCV003790686

NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)

SNV
Germline

Chr2:178607408

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430270626

rs_2470287266

2 SubmittersRCV003797110 RCV004366617

NM_001267550.2(TTN):c.46596G>A (p.Lys15532=)

SNV
Germline

Chr2:178619721

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430111669

rs_2470971480

2 SubmittersRCV003799332 RCV005637063

NM_001267550.2(TTN):c.56962+1G>A

SNV
Germline

Chr2:178598747

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349524940

rs_2469860660

2 SubmittersRCV003799672 RCV004676286

NM_001267550.2(TTN):c.8903-2A>T

SNV
Germline

Chr2:178768935

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349676347

rs_2532406862

1 SubmittersRCV003802880

NM_001267550.2(TTN):c.20836+1G>T

SNV
Germline

Chr2:178725367

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540430

rs_1553915256

1 SubmittersRCV003802887

NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)

SNV
Germline

Chr2:178740782

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349615065

rs_1279793527

1 SubmittersRCV003802994

NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)

SNV
Germline

Chr2:178775487

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440221

rs_184312157

1 SubmittersRCV003803046

NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr2:178794416

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515370

rs_2534048550

1 SubmittersRCV003805282

NM_001267550.2(TTN):c.36202+1G>A

SNV
Germline

Chr2:178664653

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349500661

rs_758622001

1 SubmittersRCV003805314

NM_001267550.2(TTN):c.47573-1G>A

SNV
Germline

Chr2:178617513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614401

rs_2470853390

1 SubmittersRCV003805336

NM_001267550.2(TTN):c.46430-2A>G

SNV
Germline

Chr2:178619889

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626445

rs_2470977242

1 SubmittersRCV003800587

NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)

SNV
Germline

Chr2:178599849

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60976857

rs_868477630

1 SubmittersRCV003800601

NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)

SNV
Germline

Chr2:178566208

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349592798

rs_1559348938

1 SubmittersRCV003803099

NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)

SNV
Germline

Chr2:178597805

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349522031

rs_2469805793

1 SubmittersRCV003803185

NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)

SNV
Germline

Chr2:178580579

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425980

rs_2468935104

1 SubmittersRCV003803349

NM_001267550.2(TTN):c.1536+1G>T

SNV
Germline

Chr2:178793403

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512386

rs_2093614668

1 SubmittersRCV003803419

NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)

SNV
Germline

Chr2:178632239

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349649542

rs_1454698596

1 SubmittersRCV003800906

NM_001267550.2(TTN):c.39625+1G>C

SNV
Germline

Chr2:178651242

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349453654

rs_970681023

2 SubmittersRCV003801066 RCV006706380

NM_001267550.2(TTN):c.64093+1G>A

SNV
Germline

Chr2:178587117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445885

rs_2469275342

1 SubmittersRCV003801106

NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)

SNV
Germline

Chr2:178776067

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447150

rs_769734824

1 SubmittersRCV003803617

NM_001267550.2(TTN):c.21404-1G>C

SNV
Germline

Chr2:178723697

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349534992

rs_1433170500

1 SubmittersRCV003803641

NM_001267550.2(TTN):c.43213+1G>T

SNV
Germline

Chr2:178632917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651823

rs_2059978690

1 SubmittersRCV003803672

NM_001267550.2(TTN):c.98098+1G>T

SNV
Germline

Chr2:178540067

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349434865

rs_2468790570

1 SubmittersRCV003809152

NM_001267550.2(TTN):c.39212-1G>A

SNV
Germline

Chr2:178652180

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349460102

rs_757200738

1 SubmittersRCV003801291

NM_001267550.2(TTN):c.68225-1G>A

SNV
Germline

Chr2:178578716

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673338

rs_1575854773

1 SubmittersRCV003801420

NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)

SNV
Germline

Chr2:178722466

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2000853

rs_746136883

1 SubmittersRCV003801458

NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)

SNV
Germline

Chr2:178563223

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349570707

rs_2468154010

3 SubmittersRCV003801488 RCV004736407 RCV005301383

NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)

SNV
Germline

Chr2:178605263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349557603

rs_748278337

1 SubmittersRCV003796663

NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)

SNV
Germline

Chr2:178547773

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349480237

rs_2469105624

2 SubmittersRCV003796822 RCV004992852

NM_001267550.2(TTN):c.52405+2T>C

SNV
Germline

Chr2:178608604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349574125

rs_2470347591

1 SubmittersRCV003796904

NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)

SNV
Germline

Chr2:178721046

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349517594

rs_1553908254

1 SubmittersRCV003796905

NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)

SNV
Germline

Chr2:178534089

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349417342

rs_2468520945

1 SubmittersRCV003797007

NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)

SNV
Germline

Chr2:178731183

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349572444

rs_2080414407

1 SubmittersRCV003797260

NM_001267550.2(TTN):c.29695-1G>T

SNV
Germline

Chr2:178704778

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579406

rs_2475232041

1 SubmittersRCV003802596

NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)

SNV
Germline

Chr2:178562393

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349564645

rs_2469726375

1 SubmittersRCV003802727

NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)

SNV
Germline

Chr2:178532995

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413879

rs_1220348139

1 SubmittersRCV003802728

NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)

SNV
Germline

Chr2:178572058

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349635880

rs_2468519909

1 SubmittersRCV003800191

NM_001267550.2(TTN):c.49049-2A>C

SNV
Germline

Chr2:178614350

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349606840

rs_2470658624

1 SubmittersRCV003800295

NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)

SNV
Germline

Chr2:178780012

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349481865

rs_778331308

1 SubmittersRCV003800299

NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)

SNV
Germline

Chr2:178568230

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349604252

rs_756933390

1 SubmittersRCV003800333

NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)

SNV
Germline

Chr2:178560342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547917

rs_2469653020

1 SubmittersRCV003800532

NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)

SNV
Germline

Chr2:178534066

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349417288

rs_761394437

1 SubmittersRCV003808542

NM_001267550.2(TTN):c.35630-1G>A

SNV
Germline

Chr2:178667526

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349509502

rs_2154262004

1 SubmittersRCV003808567

NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)

SNV
Germline

Chr2:178775367

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349682702

rs_2532811159

1 SubmittersRCV003800669

NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)

SNV
Germline

Chr2:178553698

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519374

rs_2469337078

1 SubmittersRCV003800765

NM_001267550.2(TTN):c.25064-2A>G

SNV
Germline

Chr2:178717812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489929

rs_2529225314

1 SubmittersRCV003800786

NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)

SNV
Germline

Chr2:178617446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614030

rs_2470851448

1 SubmittersRCV003808757

NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)

SNV
Germline

Chr2:178575862

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349663680

rs_2468700357

1 SubmittersRCV003808894

NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)

SNV
Germline

Chr2:178607647

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568696

rs_2055221235

1 SubmittersRCV003807187

NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)

SNV
Germline

Chr2:178543448

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447685

rs_778126823

1 SubmittersRCV003807189

NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)

SNV
Germline

Chr2:178557446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349534100

rs_2469528595

1 SubmittersRCV003809283

NM_001267550.2(TTN):c.99865+1G>T

SNV
Germline

Chr2:178537341

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349427281

rs_2468668042

2 SubmittersRCV003809359 RCV005631248

NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)

SNV
Germline

Chr2:178546601

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349469877

rs_771635198

1 SubmittersRCV003809380

NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)

SNV
Germline

Chr2:178576631

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349667324

rs_2468739970

1 SubmittersRCV003804709

NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)

SNV
Germline

Chr2:178589248

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464720

rs_2469384035

1 SubmittersRCV003804793

NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)

SNV
Germline

Chr2:178538573

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349430611

rs_2468727653

1 SubmittersRCV003801816

NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)

SNV
Germline

Chr2:178553698

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519382

rs_2469337078

1 SubmittersRCV003801880

NM_001267550.2(TTN):c.52706-1G>T

SNV
Germline

Chr2:178608082

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349571584

rs_2055351447

1 SubmittersRCV003801939

NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)

SNV
Germline

Chr2:178559456

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542199

rs_779407441

1 SubmittersRCV003801968

NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)

SNV
Germline

Chr2:178537845

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428743

rs_2468687187

1 SubmittersRCV003801980

NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)

SNV
Germline

Chr2:178567208

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600575

rs_1485556692

1 SubmittersRCV003801998

NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)

SNV
Germline

Chr2:178572610

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638698

rs_2468545550

1 SubmittersRCV003804551

NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)

SNV
Germline

Chr2:178740982

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349615928

rs_2530693208

1 SubmittersRCV003804552

NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)

SNV
Germline

Chr2:178534410

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349418137

rs_2468534298

1 SubmittersRCV003804635

NM_001267550.2(TTN):c.47761-2A>T

SNV
Germline

Chr2:178617236

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349613457

rs_2470840049

1 SubmittersRCV003810108

NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)

SNV
Germline

Chr2:178549107

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349492972

rs_1466809738

1 SubmittersRCV003802285

NM_001267550.2(TTN):c.55432+1G>T

SNV
Germline

Chr2:178601657

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349541415

rs_2053485503

1 SubmittersRCV003802449

NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)

SNV
Germline

Chr2:178613021

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349601420

rs_1553699802

1 SubmittersRCV003817912

NM_001267550.2(TTN):c.52405+1G>T

SNV
Germline

Chr2:178608605

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349574129

rs_2470347675

1 SubmittersRCV003817917

NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)

SNV
Germline

Chr2:178589423

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349465237

rs_2469392477

1 SubmittersRCV003818051

NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)

SNV
Germline

Chr2:178602546

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547007

rs_2470053759

1 SubmittersRCV003813475

NM_001267550.2(TTN):c.96905-1G>A

SNV
Germline

Chr2:178542950

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349444461

rs_2468910291

2 SubmittersRCV003813481 RCV005301387

NM_001267550.2(TTN):c.47573-1G>C

SNV
Germline

Chr2:178617513

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349614399

rs_2470853390

1 SubmittersRCV003815691

NM_001267550.2(TTN):c.67058-1G>A

SNV
Germline

Chr2:178580230

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1991370

rs_756715989

1 SubmittersRCV003809574

NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)

SNV
Germline

Chr2:178759017

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673061

rs_370865998

1 SubmittersRCV003809597

NM_001267550.2(TTN):c.46966+1G>A

SNV
Germline

Chr2:178618583

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349621088

rs_2470908789

1 SubmittersRCV003801645

NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)

SNV
Germline

Chr2:178552787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513738

rs_1035231480

1 SubmittersRCV003801730

NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)

SNV
Germline

Chr2:178712116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349448800

rs_2076743263

1 SubmittersRCV003809657

NM_001267550.2(TTN):c.95722+1G>C

SNV
Germline

Chr2:178545387

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60971034

rs_112318053

1 SubmittersRCV003809678

NM_001267550.2(TTN):c.49048+1G>A

SNV
Germline

Chr2:178614465

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349606886

rs_2470671707

1 SubmittersRCV003809894

NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)

SNV
Germline

Chr2:178595606

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349514849

rs_2469698122

1 SubmittersRCV003809896

NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)

SNV
Germline

Chr2:178549022

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349492495

rs_2469149693

2 SubmittersRCV003809897 RCV004765006

NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)

SNV
Germline

Chr2:178642306

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349664981

rs_2471895234

1 SubmittersRCV003809928

NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)

SNV
Germline

Chr2:178739893

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349608383

rs_777547090

2 SubmittersRCV003810060 RCV004992866

NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)

SNV
Germline

Chr2:178612431

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599298

rs_2470540147

1 SubmittersRCV003810070

NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)

SNV
Germline

Chr2:178776885

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349458466

rs_2532903182

1 SubmittersRCV003815222

NM_001267550.2(TTN):c.49533-2A>G

SNV
Germline

Chr2:178613278

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349602507

rs_2470583825

1 SubmittersRCV003815451

NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)

SNV
Germline

Chr2:178587366

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349448650

rs_2469287097

1 SubmittersRCV003815462

NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)

SNV
Germline

Chr2:178588814

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349459109

rs_2469366209

1 SubmittersRCV003815510

NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)

SNV
Germline

Chr2:178558548

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349540573

rs_368921501

1 SubmittersRCV003813025

NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)

SNV
Germline

Chr2:178717655

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487716

rs_2529217772

1 SubmittersRCV003813034

NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)

SNV
Germline

Chr2:178615340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349608874

rs_2470732425

1 SubmittersRCV003813050

NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)

SNV
Germline

Chr2:178618734

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349622139

rs_2470914058

1 SubmittersRCV003813155

NM_001267550.2(TTN):c.54190+1G>T

SNV
Germline

Chr2:178604986

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349555277

rs_756339648

1 SubmittersRCV003813284

NM_001267550.2(TTN):c.32470+2T>C

SNV
Germline

Chr2:178685251

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547739

rs_1577392897

1 SubmittersRCV003813305

NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)

SNV
Germline

Chr2:178738143

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602050

rs_1332062788

1 SubmittersRCV003813314

NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)

SNV
Germline

Chr2:178616901

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349612483

rs_2470822562

1 SubmittersRCV003813315

NM_001267550.2(TTN):c.48760+2T>C

SNV
Germline

Chr2:178614845

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349608122

rs_1576465489

1 SubmittersRCV003813361

NM_001267550.2(TTN):c.87118+1G>A

SNV
Germline

Chr2:178558340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349539168

rs_2469567880

1 SubmittersRCV003813380

NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)

SNV
Germline

Chr2:178579036

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422153

rs_2468865585

1 SubmittersRCV003807382

NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)

SNV
Germline

Chr2:178579197

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422865

rs_375538420

1 SubmittersRCV003807546

NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)

SNV
Germline

Chr2:178775197

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349682653

rs_77675851

1 SubmittersRCV003807582

NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)

SNV
Germline

Chr2:178561525

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559068

rs_2469695739

1 SubmittersRCV003812484

NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)

SNV
Germline

Chr2:178537720

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428249

rs_2468682008

1 SubmittersRCV003812495

NM_001267550.2(TTN):c.43213+1G>A

SNV
Germline

Chr2:178632917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651825

rs_2059978690

1 SubmittersRCV003812518

NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)

SNV
Germline

Chr2:178677654

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349529257

rs_2473776344

1 SubmittersRCV003812549

NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)

SNV
Germline

Chr2:178800477

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349527272

rs_2534364249

1 SubmittersRCV003812592

NM_001267550.2(TTN):c.65863+2T>A

SNV
Germline

Chr2:178582938

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349432306

rs_2469059412

1 SubmittersRCV003812633

NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)

SNV
Germline

Chr2:178718195

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349496178

rs_2529245827

1 SubmittersRCV003812687

NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)

SNV
Germline

Chr2:178530912

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349408047

rs_2468388434

1 SubmittersRCV003810571

NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)

SNV
Germline

Chr2:178723046

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349530028

rs_2078691261

1 SubmittersRCV003810593

NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)

SNV
Germline

Chr2:178575214

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349660199

rs_547376963

1 SubmittersRCV003810621

NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)

SNV
Germline

Chr2:178610333

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349587968

rs_2470435116

2 SubmittersRCV003812744 RCV006667632

NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)

SNV
Germline

Chr2:178740346

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349610001

rs_727503657

1 SubmittersRCV003813012

NM_001267550.2(TTN):c.34379-1G>C

SNV
Germline

Chr2:178675996

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526619

rs_2473683178

1 SubmittersRCV003807265

NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)

SNV
Germline

Chr2:178578833

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421173

rs_2468857083

1 SubmittersRCV003802490

NM_001267550.2(TTN):c.94220-2A>G

SNV
Germline

Chr2:178547307

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349476479

rs_2469086767

1 SubmittersRCV003802525

NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)

SNV
Germline

Chr2:178587129

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445995

rs_2469275782

1 SubmittersRCV003802533

NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)

SNV
Germline

Chr2:178573722

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349647314

rs_1709067373

1 SubmittersRCV003805060

NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)

SNV
Germline

Chr2:178712117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349448818

rs_794729634

2 SubmittersRCV003805109 RCV005934940

NM_001267550.2(TTN):c.95119+1G>C

SNV
Germline

Chr2:178546211

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349466235

rs_2555817

1 SubmittersRCV003805252

NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)

SNV
Germline

Chr2:178567116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600186

rs_2468311018

1 SubmittersRCV003812256

NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)

SNV
Germline

Chr2:178739693

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607490

rs_2530617809

1 SubmittersRCV003812264

NM_001267550.2(TTN):c.88307-1G>A

SNV
Germline

Chr2:178555153

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349528508

rs_2469412453

1 SubmittersRCV003818094

NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)

SNV
Germline

Chr2:178585321

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440301

rs_2469180395

1 SubmittersRCV003818141

NM_001267550.2(TTN):c.49948+2T>G

SNV
Germline

Chr2:178612771

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349600305

rs_1332632767

1 SubmittersRCV003810161

NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)

SNV
Germline

Chr2:178574607

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349653008

rs_2468637677

1 SubmittersRCV003810197

NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)

SNV
Germline

Chr2:178574220

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349649732

rs_2468619234

2 SubmittersRCV003810322 RCV006667631

NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)

SNV
Germline

Chr2:178718495

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349498037

rs_2529261059

2 SubmittersRCV003810434 RCV005235735

NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)

SNV
Germline

Chr2:178617972

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349617518

rs_374281025

1 SubmittersRCV003810436

NM_001267550.2(TTN):c.4300C>T (p.Pro1434Ser)

SNV
Germline

Chr2:178777884

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60978518

rs_1049251712

2 SubmittersRCV003885064 RCV005406067

NM_001267550.2(TTN):c.88705T>A (p.Tyr29569Asn)

SNV
Germline

Chr2:178554642

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988100

rs_199821241

3 SubmittersRCV003886700 RCV005406069

NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)

SNV
Germline

Chr2:178532811

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349413473

rs_727505242

2 SubmittersRCV003887517 RCV005216142

NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)

SNV
Germline

Chr2:178721149

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349518552

rs_2078297140

1 SubmittersRCV003988971

NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)

SNV
Germline

Chr2:178591692

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487033

rs_2050240974

1 SubmittersRCV003990225

NM_001267550.2(TTN):c.78685A>T (p.Arg26229Ter)

SNV
Germline

Chr2:178567447

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349601590

rs_2468323709

1 SubmittersRCV003991108

NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)

SNV
Germline

Chr2:178587273

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349447736

rs_2469281613

1 SubmittersRCV003993594

NM_001267550.2(TTN):c.3574C>T (p.Gln1192Ter)

SNV
Germline

Chr2:178780155

Pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349482782

rs_776341264

1 SubmittersRCV003994675

NM_001267550.2(TTN):c.23772A>T (p.Lys7924Asn)

SNV
Germline

Chr2:178719720

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA2000567

rs_373894127

2 SubmittersRCV003994868

NM_001267550.2(TTN):c.15085C>T (p.Arg5029Ter)

SNV
Germline

Chr2:178734839

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349595396

rs_2530298654

2 SubmittersRCV004006251 RCV005064948

NM_001267550.2(TTN):c.92284A>T (p.Lys30762Ter)

SNV
Germline

Chr2:178549342

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349493826

rs_747890554

3 SubmittersRCV004018059 RCV005631261 RCV006699500

NM_001267550.2(TTN):c.80262C>G (p.Tyr26754Ter)

SNV
Germline

Chr2:178565870

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349589823

rs_2468264153

1 SubmittersRCV004018061

NM_001267550.2(TTN):c.74707C>T (p.Gln24903Ter)

SNV
Germline

Chr2:178571425

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349631899

rs_2468493413

1 SubmittersRCV004018063

NM_001267550.2(TTN):c.41717G>A (p.Trp13906Ter)

SNV
Germline

Chr2:178635607

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349657341

rs_2471593362

1 SubmittersRCV004018064

NM_001267550.2(TTN):c.3937A>T (p.Lys1313Ter)

SNV
Germline

Chr2:178779255

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA60979061

rs_879060159

1 SubmittersRCV004018065

NM_001267550.2(TTN):c.106953C>G (p.Tyr35651Ter)

SNV
Germline

Chr2:178528798

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349402472

rs_376886668

2 SubmittersRCV004018230 RCV004588531

NM_001267550.2(TTN):c.72799C>T (p.Gln24267Ter)

SNV
Germline

Chr2:178573333

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349645484

rs_2468580364

2 SubmittersRCV004018231

NM_001267550.2(TTN):c.81988C>T (p.Gln27330Ter)

SNV
Germline

Chr2:178564144

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349576247

rs_1205501595

3 SubmittersRCV004018318 RCV004372004 RCV006270621

NM_001267550.2(TTN):c.90040G>T (p.Gly30014Ter)

SNV
Germline

Chr2:178552860

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349514096

rs_2469305827

1 SubmittersRCV004018365

NM_001267550.2(TTN):c.77421C>A (p.Tyr25807Ter)

SNV
Germline

Chr2:178568711

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

CA349610582

rs_1354210851

1 SubmittersRCV004018369

NM_001267550.2(TTN):c.8641+19C>A

SNV
Germline

Chr2:178770041

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2004567

rs_749820891

2 SubmittersRCV004018514 RCV005220881

NM_001267550.2(TTN):c.1129G>T (p.Glu377Ter)

SNV
Germline

Chr2:178795038

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349518087

rs_1012350596

2 SubmittersRCV004508547 RCV006564835

NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)

SNV
Germline

Chr2:178635976

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349657987

rs_1336274191

2 SubmittersRCV004508552 RCV004767562

NM_001267550.2(TTN):c.45009T>A (p.Cys15003Ter)

SNV
Germline

Chr2:178621913

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349637867

rs_2058350211

1 SubmittersRCV004508559

NM_001267550.2(TTN):c.49532+1G>T

SNV
Germline

Chr2:178613750

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349604140

rs_2470620124

1 SubmittersRCV004508577

NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter)

SNV
Germline

Chr2:178589426

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349465250

rs_1553640642

2 SubmittersRCV004508599 RCV005220920

NM_001267550.2(TTN):c.68442T>A (p.Tyr22814Ter)

SNV
Germline

Chr2:178578073

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349672495

rs_2468813508

1 SubmittersRCV004508620

NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter)

SNV
Germline

Chr2:178566382

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349594085

rs_2468282675

2 SubmittersRCV004508654 RCV005220923

NM_001267550.2(TTN):c.80738G>A (p.Trp26913Ter)

SNV
Germline

Chr2:178565394

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349586510

rs_1705368893

1 SubmittersRCV004508659

NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter)

SNV
Germline

Chr2:178564417

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349578510

rs_1408614204

2 SubmittersRCV004508660 RCV006564841

NM_001267550.2(TTN):c.83360G>A (p.Trp27787Ter)

SNV
Germline

Chr2:178562772

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349568058

rs_2468134625

1 SubmittersRCV004508664

NM_001267550.2(TTN):c.84933C>G (p.Tyr28311Ter)

SNV
Germline

Chr2:178561199

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

CA349557249

rs_757013679

1 SubmittersRCV004508668

NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter)

SNV
Germline

Chr2:178537594

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349427838

rs_2468677363

2 SubmittersRCV004508701 RCV005216230

NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter)

SNV
Germline

Chr2:178537173

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349427122

rs_1294718974

2 SubmittersRCV004508704 RCV005220924

NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)

SNV
Germline

Chr2:178793433

Pathogenic/Likely pathogenic

Centronuclear myopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2533988710

3 SubmittersRCV004587614 RCV004765011 RCV006651723

NM_001267550.2(TTN):c.30883G>T (p.Glu10295Ter)

SNV
Unknown

Chr2:178696189

Likely pathogenic

Centronuclear myopathy

Criteria Provided
Single Submitter

rs_2474711823

1 SubmittersRCV004587616

NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)

SNV
Germline

Chr2:178565002

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349583341

rs_2468228555

1 SubmittersRCV004526454

NM_001267550.2(TTN):c.104408C>G (p.Ser34803Ter)

SNV
Germline

Chr2:178532207

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349411795

rs_2468441135

1 SubmittersRCV004547419

NM_001267550.2(TTN):c.45896-2A>C

SNV
Germline

Chr2:178620627

Pathogenic

Hypertrophic cardiomyopathy 9

Criteria Provided
Single Submitter

CA349630748

rs_869025548

1 SubmittersRCV004555419

NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)

SNV
Germline

Chr2:178577044

Likely pathogenic

Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349669253

rs_2468761188

2 SubmittersRCV004555979 RCV005291089

NM_001267550.2(TTN):c.101376T>G (p.Tyr33792Ter)

SNV
Germline

Chr2:178535239

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349420849

rs_367732133

1 SubmittersRCV004584243

NM_001267550.2(TTN):c.49455C>G (p.Tyr16485Ter)

SNV
Germline

Chr2:178613828

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

rs_2470624288

1 SubmittersRCV004556950

NM_001267550.2(TTN):c.15361T>C (p.Tyr5121His)

SNV
Germline

Chr2:178734463

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_2081084380

2 SubmittersRCV004566542 RCV005406112

NM_001267550.2(TTN):c.46905T>A (p.Tyr15635Ter)

SNV
Germline

Chr2:178618645

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

rs_759353324

1 SubmittersRCV004574940

NM_001267550.2(TTN):c.11662G>T (p.Gly3888Ter)

SNV
Germline

Chr2:178741571

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

rs_2530727228

1 SubmittersRCV004579666

NM_001267550.2(TTN):c.65491C>T (p.Gln21831Ter)

SNV
Germline

Chr2:178583691

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2469100170

1 SubmittersRCV004585744

NM_001267550.2(TTN):c.46591G>T (p.Gly15531Ter)

SNV
Germline

Chr2:178619726

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_761815745

1 SubmittersRCV004592246

NM_001267550.2(TTN):c.95416+1G>C

SNV
Germline

Chr2:178545819

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004598955

NM_001267550.2(TTN):c.78322C>T (p.Gln26108Ter)

SNV
Unknown

Chr2:178567810

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004666659

NM_001267550.2(TTN):c.64244G>A (p.Trp21415Ter)

SNV
Unknown

Chr2:178586657

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004666662

NM_001267550.2(TTN):c.3976A>T (p.Lys1326Ter)

SNV
Germline

Chr2:178779106

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004682833 RCV005054488

NM_001267550.2(TTN):c.68527+1G>T

SNV
Germline

Chr2:178577987

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004682835 RCV004787152 RCV005220993

NM_001267550.2(TTN):c.101884C>T (p.Gln33962Ter)

SNV
Germline

Chr2:178534731

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682847

NM_001267550.2(TTN):c.9319A>T (p.Lys3107Ter)

SNV
Germline

Chr2:178767911

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682855

NM_001267550.2(TTN):c.2670C>A (p.Tyr890Ter)

SNV
Germline

Chr2:178784175

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682859

NM_001267550.2(TTN):c.42463G>T (p.Glu14155Ter)

SNV
Germline

Chr2:178634036

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682871

NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)

SNV
Germline

Chr2:178571886

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

2 SubmittersRCV004682881 RCV004765082

NM_001267550.2(TTN):c.79066G>T (p.Glu26356Ter)

SNV
Germline

Chr2:178567066

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004682889 RCV006565129

NM_001267550.2(TTN):c.41986C>T (p.Gln13996Ter)

SNV
Germline

Chr2:178635203

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682904

NM_001267550.2(TTN):c.57865G>T (p.Glu19289Ter)

SNV
Germline

Chr2:178594629

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682907

NM_001267550.2(TTN):c.6857T>G (p.Leu2286Ter)

SNV
Germline

Chr2:178774407

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682926

NM_001267550.2(TTN):c.60138T>A (p.Tyr20046Ter)

SNV
Germline

Chr2:178591681

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004682927

NM_001267550.2(TTN):c.69557G>A (p.Trp23186Ter)

SNV
Germline

Chr2:178576687

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004691648

NM_001267550.2(TTN):c.63254G>A (p.Trp21085Ter)

SNV
Germline

Chr2:178588153

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004698208

NM_001267550.2(TTN):c.51817G>T (p.Gly17273Ter)

SNV
Germline

Chr2:178609493

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775608

NM_001267550.2(TTN):c.54342G>A (p.Trp18114Ter)

SNV
Germline

Chr2:178604747

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005216304 RCV004775610

NM_001267550.2(TTN):c.55549G>T (p.Glu18517Ter)

SNV
Germline

Chr2:178601448

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775613

NM_001267550.2(TTN):c.60415A>T (p.Lys20139Ter)

SNV
Germline

Chr2:178591310

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775614

NM_001267550.2(TTN):c.61769G>A (p.Trp20590Ter)

SNV
Germline

Chr2:178589956

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775615

NM_001267550.2(TTN):c.68172T>G (p.Tyr22724Ter)

SNV
Germline

Chr2:178578858

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775617

NM_001267550.2(TTN):c.70476C>A (p.Cys23492Ter)

SNV
Germline

Chr2:178575656

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775618

NM_001267550.2(TTN):c.79101T>A (p.Tyr26367Ter)

SNV
Germline

Chr2:178567031

Likely pathogenic

Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004775621

NM_001267550.2(TTN):c.87428G>T (p.Gly29143Val)

SNV
Germline

Chr2:178557926

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_368010212

4 SubmittersRCV004701958 RCV005628402

NM_001267550.2(TTN):c.36532+2T>G

SNV
Germline

Chr2:178663625

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221001 RCV005241020

NM_001267550.2(TTN):c.13141G>T (p.Glu4381Ter)

SNV
Germline

Chr2:178740092

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004719503

NM_001267550.2(TTN):c.57545-1G>T

SNV
Germline

Chr2:178595810

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004722024

NM_001267550.2(TTN):c.40255G>T (p.Glu13419Ter)

SNV
Germline

Chr2:178646527

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004722042

NM_001267550.2(TTN):c.48638+1G>C

SNV
Germline

Chr2:178615306

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004722195 RCV005221008

NM_001267550.2(TTN):c.103735G>T (p.Glu34579Ter)

SNV
Germline

Chr2:178532880

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004722205

NM_001267550.2(TTN):c.107818C>T (p.Gln35940Ter)

SNV
Germline

Chr2:178527170

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

4 SubmittersRCV004722241 RCV005216310 RCV005301443 RCV006699508

NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)

SNV
Germline

Chr2:178633978

Pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004723661

NM_001267550.2(TTN):c.68329+1G>A

SNV
Germline

Chr2:178578610

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004729384

NM_001267550.2(TTN):c.6508+1G>A

SNV
Germline

Chr2:178775355

Likely pathogenic

TTN-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004728163

NM_001267550.2(TTN):c.99865+1G>A

SNV
Germline

Chr2:178537341

Likely pathogenic

TTN-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004726579

NM_001267550.2(TTN):c.81601A>T (p.Lys27201Ter)

SNV
Germline

Chr2:178564531

Likely pathogenic

TTN-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004728457

NM_001267550.2(TTN):c.11254+1G>C

SNV
Germline

Chr2:178756221

Conflicting classifications of pathogenicity

TTN-related disorder
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004735004 RCV004787157

NM_001267550.2(TTN):c.94524T>G (p.Asp31508Glu)

SNV
Germline

Chr2:178546904

Conflicting classifications of pathogenicity

TTN-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_727505200

3 SubmittersRCV004735126 RCV005632734 RCV005406120

NM_001267550.2(TTN):c.104849C>A (p.Ser34950Ter)

SNV
Unknown

Chr2:178531766

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004759684

NM_001267550.2(TTN):c.24913C>T (p.Arg8305Ter)

SNV
Germline

Chr2:178718093

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004761216 RCV005218284

NM_001267550.2(TTN):c.39896-1G>A

SNV
Germline

Chr2:178649632

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004759995

NM_001267550.2(TTN):c.94740T>G (p.Tyr31580Ter)

SNV
Germline

Chr2:178546688

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765120

NM_001267550.2(TTN):c.6897G>A (p.Trp2299Ter)

SNV
Germline

Chr2:178774367

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765125

NM_001267550.2(TTN):c.64882C>T (p.Gln21628Ter)

SNV
Germline

Chr2:178584759

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765126

NM_001267550.2(TTN):c.65931G>A (p.Trp21977Ter)

SNV
Germline

Chr2:178582525

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765129

NM_001267550.2(TTN):c.66305G>A (p.Trp22102Ter)

SNV
Germline

Chr2:178582064

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765130

NM_001267550.2(TTN):c.66859G>T (p.Gly22287Ter)

SNV
Germline

Chr2:178580520

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765133

NM_001267550.2(TTN):c.66884G>A (p.Trp22295Ter)

SNV
Germline

Chr2:178580495

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765134 RCV005221045

NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)

SNV
Germline

Chr2:178579739

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765135

NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)

SNV
Germline

Chr2:178579279

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765137 RCV005218287

NM_001267550.2(TTN):c.8758G>T (p.Glu2920Ter)

SNV
Germline

Chr2:178769823

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765146

NM_001267550.2(TTN):c.70737G>A (p.Trp23579Ter)

SNV
Germline

Chr2:178575395

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765148

NM_001267550.2(TTN):c.71302C>T (p.Gln23768Ter)

SNV
Germline

Chr2:178574830

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765151

NM_001267550.2(TTN):c.72728G>A (p.Trp24243Ter)

SNV
Germline

Chr2:178573404

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765157

NM_001267550.2(TTN):c.73180G>T (p.Glu24394Ter)

SNV
Germline

Chr2:178572952

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765158

NM_001267550.2(TTN):c.75435G>A (p.Trp25145Ter)

SNV
Germline

Chr2:178570697

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765162

NM_001267550.2(TTN):c.78452C>G (p.Ser26151Ter)

SNV
Germline

Chr2:178567680

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765167

NM_001267550.2(TTN):c.79221G>A (p.Trp26407Ter)

SNV
Germline

Chr2:178566911

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765172

NM_001267550.2(TTN):c.79434T>A (p.Tyr26478Ter)

SNV
Germline

Chr2:178566698

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765173

NM_001267550.2(TTN):c.80981G>A (p.Trp26994Ter)

SNV
Germline

Chr2:178565151

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765178

NM_001267550.2(TTN):c.16939G>T (p.Glu5647Ter)

SNV
Germline

Chr2:178731936

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765179

NM_001267550.2(TTN):c.81328G>T (p.Glu27110Ter)

SNV
Germline

Chr2:178564804

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765180

NM_001267550.2(TTN):c.81487G>T (p.Glu27163Ter)

SNV
Germline

Chr2:178564645

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765182

NM_001267550.2(TTN):c.82429G>T (p.Glu27477Ter)

SNV
Germline

Chr2:178563703

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765184

NM_001267550.2(TTN):c.86163T>A (p.Tyr28721Ter)

SNV
Germline

Chr2:178559969

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765197

NM_001267550.2(TTN):c.84163A>T (p.Arg28055Ter)

SNV
Germline

Chr2:178561969

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765198

NM_001267550.2(TTN):c.87477G>A (p.Trp29159Ter)

SNV
Germline

Chr2:178557877

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765201 RCV006565273

NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)

SNV
Germline

Chr2:178557799

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765203 RCV006565274

NM_001267550.2(TTN):c.26629A>T (p.Lys8877Ter)

SNV
Germline

Chr2:178714029

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765204

NM_001267550.2(TTN):c.89730T>A (p.Tyr29910Ter)

SNV
Germline

Chr2:178553170

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765210

NM_001267550.2(TTN):c.93850G>T (p.Gly31284Ter)

SNV
Germline

Chr2:178547776

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765216

NM_001267550.2(TTN):c.94099C>T (p.Gln31367Ter)

SNV
Germline

Chr2:178547527

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765217

NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)

SNV
Germline

Chr2:178672154

Likely pathogenic

Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Single Submitter

2 SubmittersRCV004765225 RCV005406127

NM_001267550.2(TTN):c.97474G>T (p.Glu32492Ter)

SNV
Germline

Chr2:178542282

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765228

NM_001267550.2(TTN):c.99085G>T (p.Glu33029Ter)

SNV
Germline

Chr2:178538744

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765232

NM_001267550.2(TTN):c.99862C>T (p.Gln33288Ter)

SNV
Germline

Chr2:178537345

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765235

NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)

SNV
Germline

Chr2:178536358

Pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765237

NM_001267550.2(TTN):c.103840C>T (p.Gln34614Ter)

SNV
Germline

Chr2:178532775

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765242

NM_001267550.2(TTN):c.106864C>T (p.Gln35622Ter)

SNV
Germline

Chr2:178528887

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765245

NM_001267550.2(TTN):c.6509-1G>A

SNV
Germline

Chr2:178775203

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765247 RCV005218288

NM_001267550.2(TTN):c.42281C>A (p.Ser14094Ter)

SNV
Germline

Chr2:178634500

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765261

NM_001267550.2(TTN):c.42388A>T (p.Lys14130Ter)

SNV
Germline

Chr2:178634393

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765262

NM_001267550.2(TTN):c.42667C>T (p.Gln14223Ter)

SNV
Germline

Chr2:178633832

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765263

NM_001267550.2(TTN):c.43633C>T (p.Gln14545Ter)

SNV
Germline

Chr2:178632261

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765265

NM_001267550.2(TTN):c.2371-6A>G

SNV
Germline

Chr2:178785748

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765266

NM_001267550.2(TTN):c.44281+5G>C

SNV
Germline

Chr2:178630236

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765268

NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter)

SNV
Germline

Chr2:178620473

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765270

NM_001267550.2(TTN):c.46304+2T>G

SNV
Germline

Chr2:178620215

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765271

NM_001267550.2(TTN):c.45970A>T (p.Lys15324Ter)

SNV
Germline

Chr2:178620551

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765272

NM_001267550.2(TTN):c.47337G>A (p.Trp15779Ter)

SNV
Germline

Chr2:178618014

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765274

NM_001267550.2(TTN):c.48313-2A>G

SNV
Germline

Chr2:178615790

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765275

NM_001267550.2(TTN):c.48400A>T (p.Lys16134Ter)

SNV
Germline

Chr2:178615701

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765276

NM_001267550.2(TTN):c.48661G>T (p.Glu16221Ter)

SNV
Germline

Chr2:178614946

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765277

NM_001267550.2(TTN):c.49532+1G>A

SNV
Germline

Chr2:178613750

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765279

NM_001267550.2(TTN):c.51318G>A (p.Trp17106Ter)

SNV
Germline

Chr2:178610208

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765284

NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)

SNV
Germline

Chr2:178779392

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765290

NM_001267550.2(TTN):c.56560G>T (p.Glu18854Ter)

SNV
Germline

Chr2:178599233

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765294

NM_001267550.2(TTN):c.5878G>T (p.Glu1960Ter)

SNV
Germline

Chr2:178775986

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765296

NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)

SNV
Germline

Chr2:178591721

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765298

NM_001267550.2(TTN):c.60709C>T (p.Gln20237Ter)

SNV
Germline

Chr2:178591016

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004765301

NM_001267550.2(TTN):c.49412G>A (p.Trp16471Ter)

SNV
Germline

Chr2:178613871

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004770895

NM_001267550.2(TTN):c.94596T>A (p.Tyr31532Ter)

SNV
Germline

Chr2:178546832

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004769739 RCV005218291

NM_001267550.2(TTN):c.96311-1G>A

SNV
Germline

Chr2:178543663

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004781255

NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)

SNV
Unknown

Chr2:178557086

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004781985

NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)

SNV
Germline

Chr2:178612058

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004788205

NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)

SNV
Germline

Chr2:178579706

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004788267

NM_001267550.2(TTN):c.52705+1G>A

SNV
Germline

Chr2:178608177

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004788278

NM_001267550.2(TTN):c.59926+2T>C

SNV
Germline

Chr2:178591976

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004788300

NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)

SNV
Germline

Chr2:178777458

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004788420

NM_001267550.2(TTN):c.21068A>C (p.Gln7023Pro)

SNV
Germline

Chr2:178724307

Conflicting classifications of pathogenicity

TTN-related myopathy
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788421 RCV006565323

NM_001267550.2(TTN):c.48639-2A>C

SNV
Germline

Chr2:178614970

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004789988

NM_001267550.2(TTN):c.45567C>G (p.Tyr15189Ter)

SNV
Germline

Chr2:178621151

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004790101

NM_001267550.2(TTN):c.94828+1G>T

SNV
Germline

Chr2:178546599

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791118 RCV006565356

NM_001267550.2(TTN):c.88009+1G>A

SNV
Germline

Chr2:178557252

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004791121

NM_001267550.2(TTN):c.15562C>T (p.Gln5188Ter)

SNV
Germline

Chr2:178733827

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004796929

NM_001267550.2(TTN):c.52894A>T (p.Lys17632Ter)

SNV
Germline

Chr2:178607893

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004797052

NM_001267550.2(TTN):c.46308C>G (p.Tyr15436Ter)

SNV
Germline

Chr2:178620109

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004797057

NM_001267550.2(TTN):c.33511G>T (p.Glu11171Ter)

SNV
Germline

Chr2:178679963

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004797180

NM_001267550.2(TTN):c.69196G>T (p.Glu23066Ter)

SNV
Germline

Chr2:178577139

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004797238

NM_001267550.2(TTN):c.23605C>T (p.Gln7869Ter)

SNV
Germline

Chr2:178720037

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004795530

NM_001267550.2(TTN):c.10819G>T (p.Glu3607Ter)

SNV
Germline

Chr2:178756657

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004795542

NM_001267550.2(TTN):c.103800G>A (p.Trp34600Ter)

SNV
Germline

Chr2:178532815

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004795551

NM_001267550.2(TTN):c.42451C>T (p.Gln14151Ter)

SNV
Germline

Chr2:178634048

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV004795557

NM_001267550.2(TTN):c.20382G>A (p.Trp6794Ter)

SNV
Germline

Chr2:178725940

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795591 RCV006565360

NM_001267550.2(TTN):c.45966G>A (p.Trp15322Ter)

SNV
Germline

Chr2:178620555

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795593

NM_001267550.2(TTN):c.54386G>A (p.Trp18129Ter)

SNV
Germline

Chr2:178604301

Likely pathogenic

6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795636 RCV005218335

NM_001267550.2(TTN):c.83821G>T (p.Glu27941Ter)

SNV
Unknown

Chr2:178562311

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV004805150

NM_001267550.2(TTN):c.63139G>T (p.Gly21047Ter)

SNV
Germline

Chr2:178588586

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004812757

NM_001267550.2(TTN):c.1267A>C (p.Ser423Arg)

SNV
Germline

Chr2:178794530

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775604156

2 SubmittersRCV005406138 RCV004812951

NM_001267550.2(TTN):c.72526G>T (p.Glu24176Ter)

SNV
Germline

Chr2:178573606

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV004813372

NM_001267550.2(TTN):c.62733G>A (p.Trp20911Ter)

SNV
Germline

Chr2:178588992

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004991074 RCV005255804

NM_001267550.2(TTN):c.56246T>A (p.Leu18749Ter)

SNV
Germline

Chr2:178599655

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991075

NM_001267550.2(TTN):c.75778C>T (p.Gln25260Ter)

SNV
Germline

Chr2:178570354

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991086

NM_001267550.2(TTN):c.6583G>T (p.Glu2195Ter)

SNV
Germline

Chr2:178775128

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005632777 RCV004991087

NM_001267550.2(TTN):c.81926G>A (p.Trp27309Ter)

SNV
Germline

Chr2:178564206

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004991094 RCV006565568

NM_001267550.2(TTN):c.55522G>T (p.Gly18508Ter)

SNV
Germline

Chr2:178601475

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991097

NM_001267550.2(TTN):c.73767C>G (p.Tyr24589Ter)

SNV
Germline

Chr2:178572365

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991105

NM_001267550.2(TTN):c.61218T>G (p.Tyr20406Ter)

SNV
Germline

Chr2:178590507

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991129

NM_001267550.2(TTN):c.59771G>A (p.Trp19924Ter)

SNV
Germline

Chr2:178592133

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991137

NM_001267550.2(TTN):c.87256A>T (p.Lys29086Ter)

SNV
Germline

Chr2:178558098

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004991157

NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)

SNV
Germline

Chr2:178642279

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004993012 RCV005221151

NM_001267550.2(TTN):c.81009C>A (p.Cys27003Ter)

SNV
Germline

Chr2:178565123

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004993018

NM_001267550.2(TTN):c.89127T>A (p.Cys29709Ter)

SNV
Germline

Chr2:178553984

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004993033

NM_001267550.2(TTN):c.95526C>G (p.Tyr31842Ter)

SNV
Germline

Chr2:178545584

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV004993041

NM_001267550.2(TTN):c.29446G>T (p.Gly9816Ter)

SNV
Germline

Chr2:178705332

Likely pathogenic

Tibial muscular dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004823550

NM_001267550.2(TTN):c.91328G>A (p.Trp30443Ter)

SNV
Germline

Chr2:178551203

Likely pathogenic

TTN-related cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005000615

NM_001267550.2(TTN):c.92871T>G (p.Ala30957=)

SNV
Germline

Chr2:178548755

Conflicting classifications of pathogenicity

6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030603 RCV006564251

NM_001267550.2(TTN):c.85327G>A (p.Val28443Ile)

SNV
Germline

Chr2:178560805

Conflicting classifications of pathogenicity

6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030611 RCV005639618

NM_001267550.2(TTN):c.914+1G>A

SNV
Germline

Chr2:178799486

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV005030639

NM_001267550.2(TTN):c.99090T>C (p.Ile33030=)

SNV
Germline

Chr2:178538739

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005301472 RCV005000928

NM_001267550.2(TTN):c.57262G>C (p.Val19088Leu)

SNV
Germline

Chr2:178597908

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005416778

NM_001267550.2(TTN):c.75581C>G (p.Ser25194Ter)

SNV
Germline

Chr2:178570551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005054117 RCV006564334

NM_001267550.2(TTN):c.16122C>A (p.Cys5374Ter)

SNV
Germline

Chr2:178733054

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005054628 RCV006564336

NM_001267550.2(TTN):c.69261G>A (p.Trp23087Ter)

SNV
Germline

Chr2:178577074

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005055469

NM_001267550.2(TTN):c.31348+1G>T

SNV
Germline

Chr2:178694828

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005063565 RCV006564342

NM_001267550.2(TTN):c.14170C>T (p.Gln4724Ter)

SNV
Germline

Chr2:178738283

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005087553

NM_001267550.2(TTN):c.5413C>T (p.Gln1805Ter)

SNV
Germline

Chr2:178776451

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209845

NM_001267550.2(TTN):c.103411C>T (p.Arg34471Ter)

SNV
Germline

Chr2:178533204

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005209894 RCV006698557

NM_001267550.2(TTN):c.8116+1G>A

SNV
Germline

Chr2:178771210

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209949

NM_001267550.2(TTN):c.12970G>T (p.Glu4324Ter)

SNV
Germline

Chr2:178740263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209985

NM_001267550.2(TTN):c.39817+1G>A

SNV
Germline

Chr2:178650163

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211151

NM_001267550.2(TTN):c.62261G>A (p.Trp20754Ter)

SNV
Germline

Chr2:178589464

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213690

NM_001267550.2(TTN):c.29308C>T (p.Arg9770Ter)

SNV
Germline

Chr2:178706566

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213862

NM_001267550.2(TTN):c.77156G>A (p.Trp25719Ter)

SNV
Germline

Chr2:178568976

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213946

NM_001267550.2(TTN):c.34786+1G>A

SNV
Germline

Chr2:178673632

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_879010418

2 SubmittersRCV005211470 RCV005406163

NM_001267550.2(TTN):c.11851C>T (p.Gln3951Ter)

SNV
Germline

Chr2:178741382

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211577

NM_001267550.2(TTN):c.15921C>A (p.Tyr5307Ter)

SNV
Germline

Chr2:178733372

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211641

NM_001267550.2(TTN):c.31203T>G (p.Tyr10401Ter)

SNV
Germline

Chr2:178695869

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211688

NM_001267550.2(TTN):c.41407G>T (p.Glu13803Ter)

SNV
Germline

Chr2:178636164

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211692

NM_001267550.2(TTN):c.22068G>A (p.Trp7356Ter)

SNV
Germline

Chr2:178722831

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214244

NM_001267550.2(TTN):c.36091A>T (p.Lys12031Ter)

SNV
Germline

Chr2:178664879

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219522

NM_001267550.2(TTN):c.35875+1G>C

SNV
Germline

Chr2:178666823

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223383

NM_001267550.2(TTN):c.93402G>A (p.Trp31134Ter)

SNV
Germline

Chr2:178548224

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223494

NM_001267550.2(TTN):c.51317G>A (p.Trp17106Ter)

SNV
Germline

Chr2:178610209

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223498

NM_001267550.2(TTN):c.64094-1G>A

SNV
Germline

Chr2:178586808

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223513

NM_001267550.2(TTN):c.34643C>G (p.Ser11548Ter)

SNV
Germline

Chr2:178674379

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217464

NM_001267550.2(TTN):c.46855C>T (p.Gln15619Ter)

SNV
Germline

Chr2:178618695

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217494

NM_001267550.2(TTN):c.65275+1G>A

SNV
Germline

Chr2:178584275

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217523

NM_001267550.2(TTN):c.93316G>T (p.Glu31106Ter)

SNV
Germline

Chr2:178548310

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217592

NM_001267550.2(TTN):c.50212G>T (p.Glu16738Ter)

SNV
Germline

Chr2:178612313

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217649

NM_001267550.2(TTN):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr2:178784108

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217671

NM_001267550.2(TTN):c.54441T>A (p.Tyr18147Ter)

SNV
Germline

Chr2:178604246

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217753

NM_001267550.2(TTN):c.39211+1G>A

SNV
Germline

Chr2:178652263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217754

NM_001267550.2(TTN):c.95868G>A (p.Trp31956Ter)

SNV
Germline

Chr2:178544361

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219739

NM_001267550.2(TTN):c.94493C>G (p.Ser31498Ter)

SNV
Germline

Chr2:178547032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219827

NM_001267550.2(TTN):c.9471+1G>T

SNV
Germline

Chr2:178767758

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215559

NM_001267550.2(TTN):c.18088C>T (p.Gln6030Ter)

SNV
Germline

Chr2:178730312

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215578

NM_001267550.2(TTN):c.5092G>T (p.Glu1698Ter)

SNV
Germline

Chr2:178776772

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217798

NM_001267550.2(TTN):c.44014+2T>C

SNV
Germline

Chr2:178631032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217841

NM_001267550.2(TTN):c.30754+2T>C

SNV
Germline

Chr2:178698841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217867

NM_001267550.2(TTN):c.68823C>G (p.Tyr22941Ter)

SNV
Germline

Chr2:178577603

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217994

NM_001267550.2(TTN):c.11558G>A (p.Trp3853Ter)

SNV
Germline

Chr2:178741675

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218018

NM_001267550.2(TTN):c.90815G>A (p.Trp30272Ter)

SNV
Germline

Chr2:178552085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005225729

NM_001267550.2(TTN):c.2931C>G (p.Tyr977Ter)

SNV
Germline

Chr2:178782975

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221529

NM_001267550.2(TTN):c.94220-1G>C

SNV
Germline

Chr2:178547306

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221569

NM_001267550.2(TTN):c.57693G>A (p.Trp19231Ter)

SNV
Germline

Chr2:178595661

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221575

NM_001267550.2(TTN):c.50746G>T (p.Glu16916Ter)

SNV
Germline

Chr2:178611483

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221580

NM_001267550.2(TTN):c.42897T>G (p.Tyr14299Ter)

SNV
Germline

Chr2:178633462

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221599

NM_001267550.2(TTN):c.86482C>T (p.Gln28828Ter)

SNV
Germline

Chr2:178559650

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221622

NM_001267550.2(TTN):c.36019G>T (p.Glu12007Ter)

SNV
Germline

Chr2:178665401

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223678

NM_001267550.2(TTN):c.93110G>A (p.Trp31037Ter)

SNV
Germline

Chr2:178548516

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223680

NM_001267550.2(TTN):c.57614G>A (p.Trp19205Ter)

SNV
Germline

Chr2:178595740

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223711

NM_001267550.2(TTN):c.96206T>A (p.Leu32069Ter)

SNV
Germline

Chr2:178543938

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223729

NM_001267550.2(TTN):c.12793C>T (p.Gln4265Ter)

SNV
Germline

Chr2:178740440

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223731

NM_001267550.2(TTN):c.66463+1G>A

SNV
Germline

Chr2:178581905

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223761

NM_001267550.2(TTN):c.4834G>T (p.Glu1612Ter)

SNV
Germline

Chr2:178777030

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223778

NM_001267550.2(TTN):c.46375G>T (p.Glu15459Ter)

SNV
Germline

Chr2:178620042

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223786

NM_001267550.2(TTN):c.80080G>T (p.Glu26694Ter)

SNV
Germline

Chr2:178566052

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223789

NM_001267550.2(TTN):c.3100+1G>A

SNV
Germline

Chr2:178782805

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223844

NM_001267550.2(TTN):c.79692T>A (p.Cys26564Ter)

SNV
Germline

Chr2:178566440

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223891

NM_001267550.2(TTN):c.55892G>A (p.Trp18631Ter)

SNV
Germline

Chr2:178601012

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223895

NM_001267550.2(TTN):c.30151C>T (p.Arg10051Ter)

SNV
Germline

Chr2:178704219

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218697

NM_001267550.2(TTN):c.36280+2T>A

SNV
Germline

Chr2:178664458

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005218744 RCV006645549

NM_001267550.2(TTN):c.27022G>T (p.Glu9008Ter)

SNV
Germline

Chr2:178713112

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210901

NM_001267550.2(TTN):c.81929C>G (p.Ser27310Ter)

SNV
Germline

Chr2:178564203

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210985

NM_001267550.2(TTN):c.57111+2T>C

SNV
Germline

Chr2:178598504

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211070

NM_001267550.2(TTN):c.88342G>T (p.Glu29448Ter)

SNV
Germline

Chr2:178555117

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005219027 RCV005412737

NM_001267550.2(TTN):c.16012G>T (p.Glu5338Ter)

SNV
Germline

Chr2:178733281

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219069

NM_001267550.2(TTN):c.40058-1G>A

SNV
Germline

Chr2:178647465

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219151

NM_001267550.2(TTN):c.39127+2T>C

SNV
Germline

Chr2:178652456

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211252

NM_001267550.2(TTN):c.30434-2A>G

SNV
Germline

Chr2:178702247

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211301

NM_001267550.2(TTN):c.83243T>G (p.Leu27748Ter)

SNV
Germline

Chr2:178562889

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005211322

NM_001267550.2(TTN):c.78787C>T (p.Gln26263Ter)

SNV
Germline

Chr2:178567345

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219252

NM_001267550.2(TTN):c.67492C>T (p.Gln22498Ter)

SNV
Germline

Chr2:178579705

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219319

NM_001267550.2(TTN):c.29113C>T (p.Gln9705Ter)

SNV
Germline

Chr2:178706883

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223214

NM_001267550.2(TTN):c.22475C>G (p.Ser7492Ter)

SNV
Germline

Chr2:178722312

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223329

NM_001267550.2(TTN):c.45451C>T (p.Gln15151Ter)

SNV
Germline

Chr2:178621267

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005219455

NM_001267550.2(TTN):c.103123C>T (p.Gln34375Ter)

SNV
Germline

Chr2:178533492

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214915

NM_001267550.2(TTN):c.52547G>A (p.Trp17516Ter)

SNV
Germline

Chr2:178608336

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005214942 RCV006257400

NM_001267550.2(TTN):c.49948+1G>C

SNV
Germline

Chr2:178612772

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214950

NM_001267550.2(TTN):c.62951G>A (p.Trp20984Ter)

SNV
Germline

Chr2:178588774

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214954

NM_001267550.2(TTN):c.67058-1G>T

SNV
Germline

Chr2:178580230

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214966

NM_001267550.2(TTN):c.53287+2T>A

SNV
Germline

Chr2:178607399

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217289

NM_001267550.2(TTN):c.103420C>T (p.Gln34474Ter)

SNV
Germline

Chr2:178533195

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212697

NM_001267550.2(TTN):c.51136+1G>A

SNV
Germline

Chr2:178610992

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005215235 RCV005631321

NM_001267550.2(TTN):c.93970G>T (p.Glu31324Ter)

SNV
Germline

Chr2:178547656

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215319

NM_001267550.2(TTN):c.18344T>G (p.Leu6115Ter)

SNV
Germline

Chr2:178729909

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215389

NM_001267550.2(TTN):c.103188G>A (p.Trp34396Ter)

SNV
Germline

Chr2:178533427

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215419

NM_001267550.2(TTN):c.87735G>A (p.Trp29245Ter)

SNV
Germline

Chr2:178557527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215450

NM_001267550.2(TTN):c.67302T>A (p.Tyr22434Ter)

SNV
Germline

Chr2:178579985

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215466

NM_001267550.2(TTN):c.69209C>A (p.Ser23070Ter)

SNV
Germline

Chr2:178577126

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215487

NM_001267550.2(TTN):c.48638+2T>C

SNV
Germline

Chr2:178615305

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215535

NM_001267550.2(TTN):c.61008T>A (p.Tyr20336Ter)

SNV
Germline

Chr2:178590717

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212944

NM_001267550.2(TTN):c.94220-1G>T

SNV
Germline

Chr2:178547306

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213006

NM_001267550.2(TTN):c.84420C>G (p.Tyr28140Ter)

SNV
Germline

Chr2:178561712

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213018

NM_001267550.2(TTN):c.35392G>T (p.Glu11798Ter)

SNV
Germline

Chr2:178669670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213098

NM_001267550.2(TTN):c.72379G>T (p.Glu24127Ter)

SNV
Germline

Chr2:178573753

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213114

NM_001267550.2(TTN):c.63793+1G>T

SNV
Germline

Chr2:178587515

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005213116 RCV005774768

NM_001267550.2(TTN):c.79601G>A (p.Trp26534Ter)

SNV
Germline

Chr2:178566531

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215675

NM_001267550.2(TTN):c.102932C>G (p.Ser34311Ter)

SNV
Germline

Chr2:178533683

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228493

NM_001267550.2(TTN):c.91061C>G (p.Ser30354Ter)

SNV
Germline

Chr2:178551839

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228495

NM_001267550.2(TTN):c.88962G>A (p.Trp29654Ter)

SNV
Germline

Chr2:178554149

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228496

NM_001267550.2(TTN):c.35083G>T (p.Glu11695Ter)

SNV
Germline

Chr2:178672115

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228499

NM_001267550.2(TTN):c.14092+1G>T

SNV
Germline

Chr2:178739140

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228501

NM_001267550.2(TTN):c.59467G>T (p.Glu19823Ter)

SNV
Germline

Chr2:178592538

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221273

NM_001267550.2(TTN):c.44281+2T>C

SNV
Germline

Chr2:178630239

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221274

NM_001267550.2(TTN):c.1555A>T (p.Lys519Ter)

SNV
Germline

Chr2:178792179

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221280

NM_001267550.2(TTN):c.71583T>A (p.Tyr23861Ter)

SNV
Germline

Chr2:178574549

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221283

NM_001267550.2(TTN):c.107117C>G (p.Ser35706Ter)

SNV
Germline

Chr2:178528634

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221291

NM_001267550.2(TTN):c.88807G>T (p.Glu29603Ter)

SNV
Germline

Chr2:178554540

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221295 RCV006660930

NM_001267550.2(TTN):c.48247G>T (p.Gly16083Ter)

SNV
Germline

Chr2:178616544

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221297 RCV005515739

NM_001267550.2(TTN):c.12617T>G (p.Leu4206Ter)

SNV
Germline

Chr2:178740616

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221310

NM_001267550.2(TTN):c.58969G>T (p.Glu19657Ter)

SNV
Germline

Chr2:178593239

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221353

NM_001267550.2(TTN):c.63860G>A (p.Trp21287Ter)

SNV
Germline

Chr2:178587351

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221411

NM_001267550.2(TTN):c.16508T>G (p.Leu5503Ter)

SNV
Germline

Chr2:178732553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221417

NM_001267550.2(TTN):c.44387G>A (p.Trp14796Ter)

SNV
Germline

Chr2:178629338

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221448

NM_001267550.2(TTN):c.7163G>A (p.Trp2388Ter)

SNV
Germline

Chr2:178774005

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221462

NM_001267550.2(TTN):c.78301A>T (p.Lys26101Ter)

SNV
Germline

Chr2:178567831

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221510

NM_001267550.2(TTN):c.103530T>A (p.Tyr34510Ter)

SNV
Germline

Chr2:178533085

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228685

NM_001267550.2(TTN):c.11311+1G>A

SNV
Germline

Chr2:178753123

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221740

NM_001267550.2(TTN):c.39973+1G>T

SNV
Germline

Chr2:178649553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210624

NM_001267550.2(TTN):c.52472G>A (p.Trp17491Ter)

SNV
Germline

Chr2:178608411

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210682

NM_001267550.2(TTN):c.35629+2T>G

SNV
Germline

Chr2:178667636

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218546

NM_001267550.2(TTN):c.39973+1G>A

SNV
Germline

Chr2:178649553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218648

NM_001267550.2(TTN):c.18589+1G>T

SNV
Germline

Chr2:178729663

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005216653

NM_001267550.2(TTN):c.107271C>A (p.Tyr35757Ter)

SNV
Germline

Chr2:178528380

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005216765

NM_001267550.2(TTN):c.25640-2A>G

SNV
Germline

Chr2:178715776

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005218821

NM_001267550.2(TTN):c.36043+2T>C

SNV
Germline

Chr2:178665375

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005218835

NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)

SNV
Germline

Chr2:178764764

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005218855 RCV005291221

NM_001267550.2(TTN):c.53791C>T (p.Gln17931Ter)

SNV
Germline

Chr2:178605504

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005218856

NM_001267550.2(TTN):c.39547+1G>T

SNV
Germline

Chr2:178651452

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005218867

NM_001267550.2(TTN):c.3769G>T (p.Glu1257Ter)

SNV
Germline

Chr2:178779423

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005216896

NM_001267550.2(TTN):c.8642-2A>G

SNV
Germline

Chr2:178769941

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217032

NM_001267550.2(TTN):c.101962C>T (p.Gln33988Ter)

SNV
Germline

Chr2:178534653

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217081

NM_001267550.2(TTN):c.35506A>T (p.Lys11836Ter)

SNV
Germline

Chr2:178669412

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217136

NM_001267550.2(TTN):c.1396C>T (p.Gln466Ter)

SNV
Germline

Chr2:178794401

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005217201

NM_001267550.2(TTN):c.50858-2A>C

SNV
Germline

Chr2:178611273

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212279

NM_001267550.2(TTN):c.27546C>G (p.Tyr9182Ter)

SNV
Germline

Chr2:178712376

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212307

NM_001267550.2(TTN):c.36280+1G>A

SNV
Germline

Chr2:178664459

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212308

NM_001267550.2(TTN):c.13210C>T (p.Gln4404Ter)

SNV
Germline

Chr2:178740023

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005212345 RCV006621271

NM_001267550.2(TTN):c.33095-1G>C

SNV
Germline

Chr2:178681739

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212366

NM_001267550.2(TTN):c.71164C>T (p.Gln23722Ter)

SNV
Germline

Chr2:178574968

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212413

NM_001267550.2(TTN):c.29041+1G>C

SNV
Germline

Chr2:178707525

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212510

NM_001267550.2(TTN):c.57301A>T (p.Arg19101Ter)

SNV
Germline

Chr2:178597781

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212537

NM_001267550.2(TTN):c.51985A>T (p.Lys17329Ter)

SNV
Germline

Chr2:178609325

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212651

NM_001267550.2(TTN):c.104381C>G (p.Ser34794Ter)

SNV
Germline

Chr2:178532234

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212660

NM_001267550.2(TTN):c.79597G>T (p.Glu26533Ter)

SNV
Germline

Chr2:178566535

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220621

NM_001267550.2(TTN):c.45300C>A (p.Tyr15100Ter)

SNV
Germline

Chr2:178621524

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220667

NM_001267550.2(TTN):c.78923G>A (p.Trp26308Ter)

SNV
Germline

Chr2:178567209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220675

NM_001267550.2(TTN):c.7567G>T (p.Glu2523Ter)

SNV
Germline

Chr2:178773489

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212733

NM_001267550.2(TTN):c.59872G>T (p.Gly19958Ter)

SNV
Germline

Chr2:178592032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212750

NM_001267550.2(TTN):c.8560C>T (p.Gln2854Ter)

SNV
Germline

Chr2:178770141

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212786

NM_001267550.2(TTN):c.12433G>T (p.Glu4145Ter)

SNV
Germline

Chr2:178740800

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212799

NM_001267550.2(TTN):c.70659G>A (p.Trp23553Ter)

SNV
Germline

Chr2:178575473

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212807

NM_001267550.2(TTN):c.44311A>T (p.Lys14771Ter)

SNV
Germline

Chr2:178629414

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226431

NM_001267550.2(TTN):c.61720C>T (p.Gln20574Ter)

SNV
Germline

Chr2:178590005

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226432

NM_001267550.2(TTN):c.104879G>A (p.Arg34960His)

SNV
Germline

Chr2:178531736

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

rs_1352552140

2 SubmittersRCV005224405 RCV005406170

NM_001267550.2(TTN):c.53118G>A (p.Trp17706Ter)

SNV
Germline

Chr2:178607570

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210282

NM_001267550.2(TTN):c.40057+1G>T

SNV
Germline

Chr2:178649247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210397

NM_001267550.2(TTN):c.13450G>T (p.Glu4484Ter)

SNV
Germline

Chr2:178739783

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005210432 RCV006699530

NM_001267550.2(TTN):c.16904-1G>A

SNV
Germline

Chr2:178731972

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214029

NM_001267550.2(TTN):c.107680+1G>A

SNV
Germline

Chr2:178527445

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214102

NM_001267550.2(TTN):c.47034G>A (p.Trp15678Ter)

SNV
Germline

Chr2:178618424

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214297

NM_001267550.2(TTN):c.46967-1G>C

SNV
Germline

Chr2:178618492

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005214492

NM_001267550.2(TTN):c.45896-1G>A

SNV
Germline

Chr2:178620626

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219885

NM_001267550.2(TTN):c.80788G>T (p.Glu26930Ter)

SNV
Germline

Chr2:178565344

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219908

NM_001267550.2(TTN):c.88742G>A (p.Trp29581Ter)

SNV
Germline

Chr2:178554605

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219937

NM_001267550.2(TTN):c.24226+1G>T

SNV
Germline

Chr2:178719163

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219946

NM_001267550.2(TTN):c.30682+1G>T

SNV
Germline

Chr2:178701119

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219982

NM_001267550.2(TTN):c.95265G>A (p.Trp31755Ter)

SNV
Germline

Chr2:178545971

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220018

NM_001267550.2(TTN):c.44281+1G>T

SNV
Germline

Chr2:178630240

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220034

NM_001267550.2(TTN):c.89198-1G>A

SNV
Germline

Chr2:178553808

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220083

NM_001267550.2(TTN):c.27306T>A (p.Cys9102Ter)

SNV
Germline

Chr2:178712719

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220091

NM_001267550.2(TTN):c.25270C>T (p.Gln8424Ter)

SNV
Germline

Chr2:178717604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220093

NM_001267550.2(TTN):c.83383G>T (p.Gly27795Ter)

SNV
Germline

Chr2:178562749

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220096

NM_001267550.2(TTN):c.47606C>G (p.Ser15869Ter)

SNV
Germline

Chr2:178617479

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220116

NM_001267550.2(TTN):c.93919G>T (p.Gly31307Ter)

SNV
Germline

Chr2:178547707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220164

NM_001267550.2(TTN):c.92219G>A (p.Trp30740Ter)

SNV
Germline

Chr2:178549407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220185

NM_001267550.2(TTN):c.40724-1G>C

SNV
Germline

Chr2:178640111

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212249

NM_001267550.2(TTN):c.50661C>G (p.Tyr16887Ter)

SNV
Germline

Chr2:178611568

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218130

NM_001267550.2(TTN):c.86821+1G>T

SNV
Germline

Chr2:178559310

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218185

NM_001267550.2(TTN):c.90466A>T (p.Lys30156Ter)

SNV
Germline

Chr2:178552434

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218188

NM_001267550.2(TTN):c.64093+1G>T

SNV
Germline

Chr2:178587117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218200

NM_001267550.2(TTN):c.22624C>T (p.Gln7542Ter)

SNV
Germline

Chr2:178722039

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218246

NM_001267550.2(TTN):c.58879A>T (p.Arg19627Ter)

SNV
Germline

Chr2:178593329

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218256

NM_001267550.2(TTN):c.33826+2T>C

SNV
Germline

Chr2:178678745

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218262

NM_001267550.2(TTN):c.30598+1G>T

SNV
Germline

Chr2:178701527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220221

NM_001267550.2(TTN):c.40633+1G>A

SNV
Germline

Chr2:178641240

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220222

NM_001267550.2(TTN):c.47572+1G>A

SNV
Germline

Chr2:178617778

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005220267 RCV006718303

NM_001267550.2(TTN):c.48672G>A (p.Trp16224Ter)

SNV
Germline

Chr2:178614935

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220284

NM_001267550.2(TTN):c.74613C>A (p.Cys24871Ter)

SNV
Germline

Chr2:178571519

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220326

NM_001267550.2(TTN):c.84567T>A (p.Tyr28189Ter)

SNV
Germline

Chr2:178561565

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220348

NM_001267550.2(TTN):c.71540G>A (p.Trp23847Ter)

SNV
Germline

Chr2:178574592

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220350

NM_001267550.2(TTN):c.62144G>A (p.Trp20715Ter)

SNV
Germline

Chr2:178589581

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220353

NM_001267550.2(TTN):c.33694A>T (p.Lys11232Ter)

SNV
Germline

Chr2:178679387

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220430

NM_001267550.2(TTN):c.68330-5T>C

SNV
Germline

Chr2:178578190

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005220432 RCV005774766

NM_001267550.2(TTN):c.1603C>T (p.Gln535Ter)

SNV
Germline

Chr2:178792131

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220475

NM_001267550.2(TTN):c.46430-1G>C

SNV
Germline

Chr2:178619888

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226070

NM_001267550.2(TTN):c.32012-2A>T

SNV
Germline

Chr2:178689138

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226079

NM_001267550.2(TTN):c.31207+2T>C

SNV
Germline

Chr2:178695863

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228197

NM_001267550.2(TTN):c.61024G>T (p.Glu20342Ter)

SNV
Germline

Chr2:178590701

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228249

NM_001267550.2(TTN):c.12172A>T (p.Lys4058Ter)

SNV
Germline

Chr2:178741061

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228261

NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)

SNV
Germline

Chr2:178536314

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005228262 RCV005291226

NM_001267550.2(TTN):c.46269G>A (p.Trp15423Ter)

SNV
Germline

Chr2:178620252

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223958

NM_001267550.2(TTN):c.61023T>G (p.Tyr20341Ter)

SNV
Germline

Chr2:178590702

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223961

NM_001267550.2(TTN):c.65861T>G (p.Leu21954Ter)

SNV
Germline

Chr2:178582942

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223970

NM_001267550.2(TTN):c.67253T>A (p.Leu22418Ter)

SNV
Germline

Chr2:178580034

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223985

NM_001267550.2(TTN):c.77098C>T (p.Gln25700Ter)

SNV
Germline

Chr2:178569034

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224060

NM_001267550.2(TTN):c.25296C>A (p.Cys8432Ter)

SNV
Germline

Chr2:178717578

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224071

NM_001267550.2(TTN):c.66546T>A (p.Tyr22182Ter)

SNV
Germline

Chr2:178581722

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224072

NM_001267550.2(TTN):c.100017G>A (p.Trp33339Ter)

SNV
Germline

Chr2:178537092

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226147

NM_001267550.2(TTN):c.71026C>T (p.Gln23676Ter)

SNV
Germline

Chr2:178575106

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226208

NM_001267550.2(TTN):c.48227G>A (p.Trp16076Ter)

SNV
Germline

Chr2:178616564

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226231

NM_001267550.2(TTN):c.57026G>A (p.Trp19009Ter)

SNV
Germline

Chr2:178598591

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226275

NM_001267550.2(TTN):c.85458C>G (p.Tyr28486Ter)

SNV
Germline

Chr2:178560674

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226276

NM_001267550.2(TTN):c.35470+2T>A

SNV
Germline

Chr2:178669590

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005229183

NM_001267550.2(TTN):c.36365-1G>C

SNV
Germline

Chr2:178663903

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005229363

NM_001267550.2(TTN):c.106531G>T (p.Ala35511Ser)

SNV
Germline

Chr2:178529960

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226979

NM_001267550.2(TTN):c.18417G>A (p.Trp6139Ter)

SNV
Germline

Chr2:178729836

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005224874

NM_001267550.2(TTN):c.92525G>A (p.Trp30842Ter)

SNV
Germline

Chr2:178549101

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005222607 RCV006699533

NM_001267550.2(TTN):c.28312C>T (p.Arg9438Ter)

SNV
Germline

Chr2:178710785

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222608

NM_001267550.2(TTN):c.6322G>T (p.Glu2108Ter)

SNV
Germline

Chr2:178775542

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222609

NM_001267550.2(TTN):c.36281-1G>A

SNV
Germline

Chr2:178664099

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222650

NM_001267550.2(TTN):c.36280+1G>C

SNV
Germline

Chr2:178664459

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222045

NM_001267550.2(TTN):c.68329+2T>C

SNV
Germline

Chr2:178578609

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005222075 RCV005860482

NM_001267550.2(TTN):c.27328+1G>T

SNV
Germline

Chr2:178712696

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005224137

NM_001267550.2(TTN):c.103103T>G (p.Leu34368Ter)

SNV
Germline

Chr2:178533512

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Gastric cancer

Criteria Provided
Single Submitter

2 SubmittersRCV005229420 RCV005939543

NM_001267550.2(TTN):c.36281-1G>C

SNV
Germline

Chr2:178664099

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222201

NM_001267550.2(TTN):c.104753T>G (p.Leu34918Ter)

SNV
Germline

Chr2:178531862

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 9

Criteria Provided
Single Submitter

1 SubmittersRCV005229667

NM_001267550.2(TTN):c.49794G>A (p.Trp16598Ter)

SNV
Germline

Chr2:178612927

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV005229693

NM_001267550.2(TTN):c.8764G>T (p.Glu2922Ter)

SNV
Germline

Chr2:178769817

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005229710

NM_001267550.2(TTN):c.96028G>T (p.Glu32010Ter)

SNV
Germline

Chr2:178544201

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005229733

NM_001267550.2(TTN):c.33046G>A (p.Glu11016Lys)

SNV
Germline

Chr2:178682745

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_188482293

2 SubmittersRCV005233821 RCV005406176

NM_001267550.2(TTN):c.13194A>T (p.Gln4398His)

SNV
Germline

Chr2:178740039

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_375347596

2 SubmittersRCV005234264 RCV005406177

NM_001267550.2(TTN):c.12946C>T (p.Gln4316Ter)

SNV
Unknown

Chr2:178740287

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005235847

NM_001267550.2(TTN):c.90509T>A (p.Leu30170Ter)

SNV
Germline

Chr2:178552391

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005236185 RCV005402273

NM_001267550.2(TTN):c.104579C>G (p.Ser34860Ter)

SNV
Germline

Chr2:178532036

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005250739

NM_001267550.2(TTN):c.103585G>T (p.Glu34529Ter)

SNV
Germline

Chr2:178533030

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005255059

NM_001267550.2(TTN):c.89503+1G>T

SNV
Germline

Chr2:178553501

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005252609

NM_001267550.2(TTN):c.69182G>A (p.Trp23061Ter)

SNV
Germline

Chr2:178577153

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005253305

NM_001267550.2(TTN):c.10339C>T (p.Gln3447Ter)

SNV
Germline

Chr2:178757881

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005253544

NM_001267550.2(TTN):c.49457G>A (p.Trp16486Ter)

SNV
Germline

Chr2:178613826

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005253615

NM_001267550.2(TTN):c.3642T>A (p.Tyr1214Ter)

SNV
Germline

Chr2:178780087

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005254355 RCV006567176

NM_001267550.2(TTN):c.10489C>T (p.Gln3497Ter)

SNV
Germline

Chr2:178757731

Likely pathogenic

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005356916

NM_001267550.2(TTN):c.1669C>T (p.Gln557Ter)

SNV
Germline

Chr2:178790839

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Single Submitter

1 SubmittersRCV005367863

NM_001267550.2(TTN):c.8843C>A (p.Ser2948Ter)

SNV
Germline

Chr2:178769738

Likely pathogenic

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005356919

NM_001267550.2(TTN):c.14050G>T (p.Gly4684Ter)

SNV
Germline

Chr2:178739183

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005299231

NM_001267550.2(TTN):c.82173G>A (p.Trp27391Ter)

SNV
Germline

Chr2:178563959

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005299234

NM_001267550.2(TTN):c.94963G>T (p.Glu31655Ter)

SNV
Germline

Chr2:178546368

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005299237

NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter)

SNV
Germline

Chr2:178740065

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005295233 RCV006567297

NM_001267550.2(TTN):c.62173G>T (p.Glu20725Ter)

SNV
Germline

Chr2:178589552

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005299266

NM_001267550.2(TTN):c.79618C>T (p.Gln26540Ter)

SNV
Germline

Chr2:178566514

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005299280 RCV006567302

NM_001267550.2(TTN):c.11311+1405C>T

SNV
Germline

Chr2:178751719

Conflicting classifications of pathogenicity

6 conditions
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005396140 RCV005431028

NM_001267550.2(TTN):c.37607C>T (p.Pro12536Leu)

SNV
Germline

Chr2:178658488

Conflicting classifications of pathogenicity

6 conditions
not specified

Criteria Provided
Conflicting Classifications

rs_771270249

2 SubmittersRCV005396160 RCV005406179

NM_001267550.2(TTN):c.59181G>A (p.Trp19727Ter)

SNV
Germline

Chr2:178592938

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005402316 RCV006567481

NM_001267550.2(TTN):c.82264A>G (p.Thr27422Ala)

SNV
Germline

Chr2:178563868

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

rs_760304866

2 SubmittersRCV005403827

NM_001267550.2(TTN):c.52254G>A (p.Trp17418Ter)

SNV
Germline

Chr2:178608757

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

rs_536554790

1 SubmittersRCV005403828

NM_001267550.2(TTN):c.13973C>T (p.Thr4658Ile)

SNV
Germline

Chr2:178739260

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758799742

2 SubmittersRCV005403845 RCV005620516

NM_001267550.2(TTN):c.61175G>A (p.Trp20392Ter)

SNV
Germline

Chr2:178590550

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005403948

NM_001267550.2(TTN):c.27800T>C (p.Val9267Ala)

SNV
Germline

Chr2:178712030

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755143548

2 SubmittersRCV005403996 RCV005632928

NM_001267550.2(TTN):c.44548+2T>G

SNV
Germline

Chr2:178625271

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404058

NM_001267550.2(TTN):c.74207A>G (p.Asp24736Gly)

SNV
Germline

Chr2:178571925

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762510108

2 SubmittersRCV005404065 RCV006264486

NM_001267550.2(TTN):c.48916A>C (p.Thr16306Pro)

SNV
Germline

Chr2:178614598

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005404073 RCV005632929

NM_001267550.2(TTN):c.59627-1G>C

SNV
Germline

Chr2:178592278

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404087

NM_001267550.2(TTN):c.84340A>G (p.Ile28114Val)

SNV
Germline

Chr2:178561792

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1703767853

2 SubmittersRCV005404149 RCV006651897

NM_001267550.2(TTN):c.27067C>T (p.Gln9023Ter)

SNV
Germline

Chr2:178712958

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404186

NM_001267550.2(TTN):c.95683A>G (p.Ser31895Gly)

SNV
Germline

Chr2:178545427

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775090787

2 SubmittersRCV005404204 RCV005426468

NM_001267550.2(TTN):c.75003T>G (p.Tyr25001Ter)

SNV
Germline

Chr2:178571129

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404832

NM_001267550.2(TTN):c.56648-1G>C

SNV
Germline

Chr2:178599063

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404989

NM_001267550.2(TTN):c.71620C>T (p.Gln23874Ter)

SNV
Germline

Chr2:178574512

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005404995

NM_001267550.2(TTN):c.49046T>G (p.Leu16349Ter)

SNV
Germline

Chr2:178614468

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005405162

NM_001267550.2(TTN):c.33482A>G (p.His11161Arg)

SNV
Germline

Chr2:178679992

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005405191 RCV005626974

NM_001267550.2(TTN):c.9819C>A (p.Tyr3273Ter)

SNV
Germline

Chr2:178764696

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005407474

NM_001267550.2(TTN):c.77080A>T (p.Lys25694Ter)

SNV
Germline

Chr2:178569052

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005407487

NM_001267550.2(TTN):c.107316C>A (p.Tyr35772Ter)

SNV
Germline

Chr2:178528335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005410369

NM_001267550.2(TTN):c.57263-1G>T

SNV
Germline

Chr2:178597820

Likely pathogenic

Tibial muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005410372

NM_001267550.2(TTN):c.49116G>A (p.Trp16372Ter)

SNV
Germline

Chr2:178614281

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005414058

NM_001267550.2(TTN):c.96353C>A (p.Ser32118Ter)

SNV
Germline

Chr2:178543620

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005412242

NM_001267550.2(TTN):c.106930G>T (p.Glu35644Ter)

SNV
Germline

Chr2:178528821

Likely pathogenic

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005417231 RCV005507892

NM_001267550.2(TTN):c.83758G>T (p.Glu27920Ter)

SNV
Germline

Chr2:178562374

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005429729

NM_001267550.2(TTN):c.38960-2A>C

SNV
Germline

Chr2:178652738

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005432404

NM_001267550.2(TTN):c.63347G>A (p.Trp21116Ter)

SNV
Germline

Chr2:178588060

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005436620

NM_001267550.2(TTN):c.80674C>T (p.Gln26892Ter)

SNV
Germline

Chr2:178565458

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005507552

NM_001267550.2(TTN):c.91646T>A (p.Leu30549Ter)

SNV
Germline

Chr2:178550192

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005516114

NM_001267550.2(TTN):c.13393C>T (p.Gln4465Ter)

SNV
Germline

Chr2:178739840

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005507565

NM_001267550.2(TTN):c.13914T>G (p.Tyr4638Ter)

SNV
Germline

Chr2:178739319

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005507601

NM_001267550.2(TTN):c.75677G>A (p.Trp25226Ter)

SNV
Germline

Chr2:178570455

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005516166

NM_001267550.2(TTN):c.59971A>T (p.Lys19991Ter)

SNV
Germline

Chr2:178591848

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005628731

NM_001267550.2(TTN):c.105742A>T (p.Lys35248Ter)

SNV
Germline

Chr2:178530873

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005631687

NM_001267550.2(TTN):c.69562A>T (p.Arg23188Ter)

SNV
Germline

Chr2:178576682

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005631691

NM_001267550.2(TTN):c.94523-1G>A

SNV
Germline

Chr2:178546906

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005631692

NM_001267550.2(TTN):c.103033A>T (p.Lys34345Ter)

SNV
Germline

Chr2:178533582

Likely pathogenic

Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005631696 RCV006721848

NM_001267550.2(TTN):c.87899C>A (p.Thr29300Lys)

SNV
Germline

Chr2:178557363

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1428308872

2 SubmittersRCV005634690 RCV006651941

NM_001267550.2(TTN):c.89677T>G (p.Ser29893Ala)

SNV
Germline

Chr2:178553223

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1382237741

2 SubmittersRCV005634792 RCV006651942

NM_001267550.2(TTN):c.15776-2A>G

SNV
Germline

Chr2:178733519

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005634856 RCV006568428

NM_001267550.2(TTN):c.104254C>T (p.Gln34752Ter)

SNV
Germline

Chr2:178532361

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005643033

NM_001267550.2(TTN):c.56154G>A (p.Trp18718Ter)

SNV
Germline

Chr2:178599747

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005644089

NM_001267550.2(TTN):c.46957A>T (p.Lys15653Ter)

SNV
Germline

Chr2:178618593

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646823 RCV006568440

NM_001267550.2(TTN):c.63757G>T (p.Gly21253Ter)

SNV
Germline

Chr2:178587552

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005768592

NM_001267550.2(TTN):c.13254G>A (p.Trp4418Ter)

SNV
Germline

Chr2:178739979

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005768593

NM_001267550.2(TTN):c.69936C>G (p.Tyr23312Ter)

SNV
Germline

Chr2:178576196

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005774823

NM_001267550.2(TTN):c.45228T>G (p.Tyr15076Ter)

SNV
Germline

Chr2:178621596

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005768604

NM_001267550.2(TTN):c.91906A>T (p.Lys30636Ter)

SNV
Germline

Chr2:178549816

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005774827

NM_001267550.2(TTN):c.45268C>T (p.Gln15090Ter)

SNV
Germline

Chr2:178621556

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005768610

NM_001267550.2(TTN):c.13516G>T (p.Glu4506Ter)

SNV
Germline

Chr2:178739717

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005774857

NM_001267550.2(TTN):c.54844A>T (p.Lys18282Ter)

SNV
Germline

Chr2:178602558

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005768620

NM_001267550.2(TTN):c.63939G>A (p.Trp21313Ter)

SNV
Germline

Chr2:178587272

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV005774883

NM_001267550.2(TTN):c.59180G>A (p.Trp19727Ter)

SNV
Germline

Chr2:178592939

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005859378

NM_001267550.2(TTN):c.5440C>T (p.Gln1814Ter)

SNV
Germline

Chr2:178776424

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005860625

NM_001267550.2(TTN):c.13942G>T (p.Glu4648Ter)

SNV
Germline

Chr2:178739291

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005859926

NM_001267550.2(TTN):c.35227+1G>A

SNV
Germline

Chr2:178671970

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005859949 RCV006569228

NM_001267550.2(TTN):c.69413-2A>G

SNV
Germline

Chr2:178576833

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005862035

NM_001267550.2(TTN):c.48639-2A>G

SNV
Germline

Chr2:178614970

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005864748

NM_001267550.2(TTN):c.11311+1856C>T

SNV
Germline

Chr2:178751268

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_747399267

2 SubmittersRCV005866054 RCV006651972

NM_001267550.2(TTN):c.97410T>G (p.Tyr32470Ter)

SNV
Germline

Chr2:178542346

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005881059

NM_001267550.2(TTN):c.88665G>A (p.Trp29555Ter)

SNV
Germline

Chr2:178554682

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005882759

NM_001267550.2(TTN):c.68825-2A>G

SNV
Germline

Chr2:178577512

Pathogenic

Squamous cell carcinoma of the head and neck
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

2 SubmittersRCV006223358 RCV006697741

NM_001267550.2(TTN):c.46305-1G>T

SNV
Germline

Chr2:178620113

Likely pathogenic

Uterine corpus endometrial carcinoma
Cardiovascular phenotype

Criteria Provided
Single Submitter

2 SubmittersRCV006223438 RCV006352852

NM_001267550.2(TTN):c.44548G>T (p.Glu14850Ter)

SNV
Germline

Chr2:178625273

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006249531

NM_001267550.2(TTN):c.58680T>A (p.Tyr19560Ter)

SNV
Germline

Chr2:178593620

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006250149

NM_001267550.2(TTN):c.72432G>A (p.Trp24144Ter)

SNV
Germline

Chr2:178573700

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006251347

NM_001267550.2(TTN):c.49530C>A (p.Tyr16510Ter)

SNV
Germline

Chr2:178613753

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006251348

NM_001267550.2(TTN):c.7609A>T (p.Arg2537Ter)

SNV
Germline

Chr2:178773355

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006257456

NM_001267550.2(TTN):c.98350A>T (p.Lys32784Ter)

SNV
Germline

Chr2:178539715

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258003

NM_001267550.2(TTN):c.96747G>A (p.Trp32249Ter)

SNV
Germline

Chr2:178543226

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258006

NM_001267550.2(TTN):c.60580C>T (p.Gln20194Ter)

SNV
Germline

Chr2:178591145

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258011

NM_001267550.2(TTN):c.32587A>T (p.Lys10863Ter)

SNV
Germline

Chr2:178684717

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006258014

NM_001267550.2(TTN):c.12577C>T (p.Gln4193Ter)

SNV
Germline

Chr2:178740656

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258015

NM_001267550.2(TTN):c.9463G>T (p.Glu3155Ter)

SNV
Germline

Chr2:178767767

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258016

NM_001267550.2(TTN):c.8608C>T (p.Gln2870Ter)

SNV
Germline

Chr2:178770093

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006258017

NM_001267550.2(TTN):c.63964A>T (p.Lys21322Ter)

SNV
Germline

Chr2:178587247

Likely pathogenic

Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006264701 RCV006454843

NM_001267550.2(TTN):c.11952C>A (p.Tyr3984Ter)

SNV
Germline

Chr2:178741281

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006264973

NM_001267550.2(TTN):c.31900C>T (p.Gln10634Ter)

SNV
Germline

Chr2:178689542

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006265054

NM_001267550.2(TTN):c.87851G>A (p.Trp29284Ter)

SNV
Germline

Chr2:178557411

Likely pathogenic

Primary familial dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006268236

NM_001267550.2(TTN):c.71585A>G (p.His23862Arg)

SNV
Germline

Chr2:178574547

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

rs_576552787

2 SubmittersRCV006269137

NM_001267550.2(TTN):c.99289+1G>A

SNV
Germline

Chr2:178538539

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006271091 RCV006569377

NM_001267550.2(TTN):c.58950T>A (p.Tyr19650Ter)

SNV
Germline

Chr2:178593258

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006275811

NM_001267550.2(TTN):c.45490A>T (p.Lys15164Ter)

SNV
Germline

Chr2:178621228

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006275812

NM_001267550.2(TTN):c.100040C>G (p.Ser33347Ter)

SNV
Germline

Chr2:178537069

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006278453

NM_001267550.2(TTN):c.83192T>A (p.Leu27731Ter)

SNV
Germline

Chr2:178562940

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006278467

NM_001267550.2(TTN):c.62732G>A (p.Trp20911Ter)

SNV
Germline

Chr2:178588993

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006278480 RCV006569398

NM_001267550.2(TTN):c.83651G>A (p.Trp27884Ter)

SNV
Germline

Chr2:178562481

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006351662

NM_001267550.2(TTN):c.69616G>T (p.Glu23206Ter)

SNV
Germline

Chr2:178576628

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006351664 RCV006569508

NM_001267550.2(TTN):c.98905C>T (p.Gln32969Ter)

SNV
Germline

Chr2:178539030

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356109

NM_001267550.2(TTN):c.64885G>T (p.Glu21629Ter)

SNV
Germline

Chr2:178584756

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356113

NM_001267550.2(TTN):c.12826C>T (p.Gln4276Ter)

SNV
Germline

Chr2:178740407

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356126

NM_001267550.2(TTN):c.50197C>T (p.Gln16733Ter)

SNV
Germline

Chr2:178612328

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356129

NM_001267550.2(TTN):c.4972A>T (p.Arg1658Ter)

SNV
Germline

Chr2:178776892

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356130

NM_001267550.2(TTN):c.45688G>T (p.Glu15230Ter)

SNV
Germline

Chr2:178620922

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356140

NM_001267550.2(TTN):c.77492G>A (p.Trp25831Ter)

SNV
Germline

Chr2:178568640

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356148

NM_001267550.2(TTN):c.90586A>T (p.Lys30196Ter)

SNV
Germline

Chr2:178552314

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356151

NM_001267550.2(TTN):c.92302A>T (p.Lys30768Ter)

SNV
Germline

Chr2:178549324

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356188

NM_001267550.2(TTN):c.53003-1G>A

SNV
Germline

Chr2:178607686

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356189

NM_001267550.2(TTN):c.86058T>G (p.Tyr28686Ter)

SNV
Germline

Chr2:178560074

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006356190

NM_001267550.2(TTN):c.33459C>T (p.Ala11153=)

SNV
Germline

Chr2:178680015

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006437565 RCV006569928

NM_001267550.2(TTN):c.97795+1G>T

SNV
Unknown

Chr2:178541281

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006436639

NM_001267550.2(TTN):c.103799G>A (p.Trp34600Ter)

SNV
Germline

Chr2:178532816

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006446935

NM_001267550.2(TTN):c.83988G>A (p.Trp27996Ter)

SNV
Germline

Chr2:178562144

Likely pathogenic

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Single Submitter

1 SubmittersRCV006454954

NM_001267550.2(TTN):c.1105C>T (p.Gln369Ter)

SNV
Germline

Chr2:178795062

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

rs_1326270579

1 SubmittersRCV006454972

NM_001267550.2(TTN):c.6909T>G (p.Asp2303Glu)

SNV
Germline

Chr2:178774355

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006460588

NM_001267550.2(TTN):c.57263-11A>G

SNV
Unknown

Chr2:178597830

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006553821

NM_001267550.2(TTN):c.61285C>T (p.Gln20429Ter)

SNV
Germline

Chr2:178590440

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602550

NM_001267550.2(TTN):c.76378G>T (p.Gly25460Ter)

SNV
Germline

Chr2:178569754

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590836

NM_001267550.2(TTN):c.6791-1G>C

SNV
Germline

Chr2:178774474

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590877

NM_001267550.2(TTN):c.79002G>A (p.Trp26334Ter)

SNV
Germline

Chr2:178567130

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590944

NM_001267550.2(TTN):c.56844T>A (p.Tyr18948Ter)

SNV
Germline

Chr2:178598866

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591008

NM_001267550.2(TTN):c.72880G>T (p.Glu24294Ter)

SNV
Germline

Chr2:178573252

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591036

NM_001267550.2(TTN):c.57000G>A (p.Trp19000Ter)

SNV
Germline

Chr2:178598617

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006591062 RCV006605460

NM_001267550.2(TTN):c.33060T>A (p.Tyr11020Ter)

SNV
Germline

Chr2:178682731

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591084

NM_001267550.2(TTN):c.91565-1G>T

SNV
Germline

Chr2:178550274

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591143

NM_001267550.2(TTN):c.64495A>T (p.Lys21499Ter)

SNV
Germline

Chr2:178585249

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591151

NM_001267550.2(TTN):c.84772C>T (p.Gln28258Ter)

SNV
Germline

Chr2:178561360

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591169

NM_001267550.2(TTN):c.35119C>T (p.Gln11707Ter)

SNV
Germline

Chr2:178672079

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591180

NM_001267550.2(TTN):c.62262G>A (p.Trp20754Ter)

SNV
Germline

Chr2:178589463

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591199

NM_001267550.2(TTN):c.53287+2T>C

SNV
Germline

Chr2:178607399

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591216

NM_001267550.2(TTN):c.65539G>T (p.Glu21847Ter)

SNV
Germline

Chr2:178583643

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591230

NM_001267550.2(TTN):c.79048A>T (p.Lys26350Ter)

SNV
Germline

Chr2:178567084

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602772

NM_001267550.2(TTN):c.72757G>T (p.Glu24253Ter)

SNV
Germline

Chr2:178573375

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602791

NM_001267550.2(TTN):c.97102G>T (p.Glu32368Ter)

SNV
Germline

Chr2:178542752

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602836

NM_001267550.2(TTN):c.65452G>T (p.Glu21818Ter)

SNV
Germline

Chr2:178583730

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602854

NM_001267550.2(TTN):c.93444C>G (p.Tyr31148Ter)

SNV
Germline

Chr2:178548182

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602863

NM_001267550.2(TTN):c.64405A>T (p.Lys21469Ter)

SNV
Germline

Chr2:178585339

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602890

NM_001267550.2(TTN):c.4510A>T (p.Lys1504Ter)

SNV
Germline

Chr2:178777555

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602923

NM_001267550.2(TTN):c.97795+1G>A

SNV
Germline

Chr2:178541281

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602928

NM_001267550.2(TTN):c.88894+1G>C

SNV
Germline

Chr2:178554452

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602963

NM_001267550.2(TTN):c.70368G>A (p.Trp23456Ter)

SNV
Germline

Chr2:178575764

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591321

NM_001267550.2(TTN):c.14053A>T (p.Lys4685Ter)

SNV
Germline

Chr2:178739180

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591409

NM_001267550.2(TTN):c.87848T>A (p.Leu29283Ter)

SNV
Germline

Chr2:178557414

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591410

NM_001267550.2(TTN):c.92583T>A (p.Cys30861Ter)

SNV
Germline

Chr2:178549043

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603087

NM_001267550.2(TTN):c.40170T>A (p.Tyr13390Ter)

SNV
Germline

Chr2:178647116

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603363

NM_001267550.2(TTN):c.102118A>T (p.Lys34040Ter)

SNV
Germline

Chr2:178534497

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006601914

NM_001267550.2(TTN):c.75158G>A (p.Trp25053Ter)

SNV
Germline

Chr2:178570974

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602134

NM_001267550.2(TTN):c.15775+1G>T

SNV
Germline

Chr2:178733613

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602167

NM_001267550.2(TTN):c.10197T>G (p.Tyr3399Ter)

SNV
Germline

Chr2:178759090

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602228

NM_001267550.2(TTN):c.33581-2A>G

SNV
Germline

Chr2:178679684

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602247

NM_001267550.2(TTN):c.89197+1G>A

SNV
Germline

Chr2:178553913

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602286

NM_001267550.2(TTN):c.18433G>T (p.Glu6145Ter)

SNV
Germline

Chr2:178729820

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602309

NM_001267550.2(TTN):c.50857+2T>G

SNV
Germline

Chr2:178611370

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602314

NM_001267550.2(TTN):c.1246-1G>A

SNV
Germline

Chr2:178794552

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602315

NM_001267550.2(TTN):c.89629G>T (p.Glu29877Ter)

SNV
Germline

Chr2:178553271

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602338

NM_001267550.2(TTN):c.52706-2A>C

SNV
Germline

Chr2:178608083

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602375

NM_001267550.2(TTN):c.33910+1G>A

SNV
Germline

Chr2:178678413

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602395

NM_001267550.2(TTN):c.47761-1G>A

SNV
Germline

Chr2:178617235

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006602420 RCV006605458

NM_001267550.2(TTN):c.19360C>T (p.Gln6454Ter)

SNV
Germline

Chr2:178728566

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602432

NM_001267550.2(TTN):c.49465A>T (p.Arg16489Ter)

SNV
Germline

Chr2:178613818

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602482

NM_001267550.2(TTN):c.74938G>T (p.Glu24980Ter)

SNV
Germline

Chr2:178571194

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602493

NM_001267550.2(TTN):c.100238G>A (p.Trp33413Ter)

SNV
Germline

Chr2:178536509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602511

NM_001267550.2(TTN):c.66227G>A (p.Trp22076Ter)

SNV
Germline

Chr2:178582142

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598954

NM_001267550.2(TTN):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr2:178775611

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598968

NM_001267550.2(TTN):c.54639G>A (p.Trp18213Ter)

SNV
Germline

Chr2:178604048

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599005

NM_001267550.2(TTN):c.100240A>T (p.Lys33414Ter)

SNV
Germline

Chr2:178536507

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599011

NM_001267550.2(TTN):c.59036-2A>T

SNV
Germline

Chr2:178593085

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599025

NM_001267550.2(TTN):c.91+1G>C

SNV
Germline

Chr2:178804551

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599042

NM_001267550.2(TTN):c.97492+2T>A

SNV
Germline

Chr2:178542262

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599043

NM_001267550.2(TTN):c.36277A>T (p.Lys12093Ter)

SNV
Germline

Chr2:178664463

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599052

NM_001267550.2(TTN):c.40012G>T (p.Glu13338Ter)

SNV
Germline

Chr2:178649293

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599072

NM_001267550.2(TTN):c.9114C>G (p.Tyr3038Ter)

SNV
Germline

Chr2:178768722

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599074

NM_001267550.2(TTN):c.74786G>A (p.Trp24929Ter)

SNV
Germline

Chr2:178571346

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599081

NM_001267550.2(TTN):c.61939A>T (p.Lys20647Ter)

SNV
Germline

Chr2:178589786

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599096

NM_001267550.2(TTN):c.64611C>A (p.Tyr21537Ter)

SNV
Germline

Chr2:178585133

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602562

NM_001267550.2(TTN):c.71618G>A (p.Trp23873Ter)

SNV
Germline

Chr2:178574514

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602565

NM_001267550.2(TTN):c.17121C>G (p.Tyr5707Ter)

SNV
Germline

Chr2:178731754

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602599

NM_001267550.2(TTN):c.33247+2T>C

SNV
Germline

Chr2:178681374

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602611

NM_001267550.2(TTN):c.43093G>T (p.Glu14365Ter)

SNV
Germline

Chr2:178633038

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602620

NM_001267550.2(TTN):c.32198-2A>G

SNV
Germline

Chr2:178688226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602649

NM_001267550.2(TTN):c.45895+1G>C

SNV
Germline

Chr2:178620714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599218

NM_001267550.2(TTN):c.104482G>T (p.Glu34828Ter)

SNV
Germline

Chr2:178532133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598502

NM_001267550.2(TTN):c.77599C>T (p.Gln25867Ter)

SNV
Germline

Chr2:178568533

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598504

NM_001267550.2(TTN):c.65446C>T (p.Gln21816Ter)

SNV
Germline

Chr2:178583736

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598505

NM_001267550.2(TTN):c.46430-1G>A

SNV
Germline

Chr2:178619888

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598506

NM_001267550.2(TTN):c.6679A>T (p.Lys2227Ter)

SNV
Germline

Chr2:178775032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598507

NM_001267550.2(TTN):c.3523+1G>C

SNV
Germline

Chr2:178781120

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598508

NM_001267550.2(TTN):c.1390C>T (p.Gln464Ter)

SNV
Germline

Chr2:178794407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598509

NM_001267550.2(TTN):c.55270-1G>C

SNV
Germline

Chr2:178601915

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598539

NM_001267550.2(TTN):c.68023G>T (p.Glu22675Ter)

SNV
Germline

Chr2:178579007

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598555

NM_001267550.2(TTN):c.48585T>A (p.Cys16195Ter)

SNV
Germline

Chr2:178615360

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598571

NM_001267550.2(TTN):c.54381+1G>A

SNV
Germline

Chr2:178604707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598611

NM_001267550.2(TTN):c.98831G>A (p.Trp32944Ter)

SNV
Germline

Chr2:178539104

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598618

NM_001267550.2(TTN):c.54916G>T (p.Gly18306Ter)

SNV
Germline

Chr2:178602486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602121

NM_001267550.2(TTN):c.1537-1G>T

SNV
Germline

Chr2:178792198

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595092

NM_001267550.2(TTN):c.55270-1G>A

SNV
Germline

Chr2:178601915

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595141

NM_001267550.2(TTN):c.93190C>T (p.Gln31064Ter)

SNV
Germline

Chr2:178548436

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595161

NM_001267550.2(TTN):c.3661G>T (p.Glu1221Ter)

SNV
Germline

Chr2:178780068

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595162

NM_001267550.2(TTN):c.6030T>G (p.Tyr2010Ter)

SNV
Germline

Chr2:178775834

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595209

NM_001267550.2(TTN):c.75976G>T (p.Glu25326Ter)

SNV
Germline

Chr2:178570156

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595210

NM_001267550.2(TTN):c.46696+1G>C

SNV
Germline

Chr2:178619620

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598674

NM_001267550.2(TTN):c.60921T>A (p.Tyr20307Ter)

SNV
Germline

Chr2:178590804

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598705

NM_001267550.2(TTN):c.81723T>G (p.Tyr27241Ter)

SNV
Germline

Chr2:178564409

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598707

NM_001267550.2(TTN):c.17364C>A (p.Tyr5788Ter)

SNV
Germline

Chr2:178731402

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598791

NM_001267550.2(TTN):c.96764T>G (p.Leu32255Ter)

SNV
Germline

Chr2:178543209

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598825

NM_001267550.2(TTN):c.15430G>T (p.Glu5144Ter)

SNV
Germline

Chr2:178734394

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598840

NM_001267550.2(TTN):c.14113A>T (p.Lys4705Ter)

SNV
Germline

Chr2:178738340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006598912

NM_001267550.2(TTN):c.42255G>A (p.Trp14085Ter)

SNV
Germline

Chr2:178634526

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595330

NM_001267550.2(TTN):c.65490T>G (p.Tyr21830Ter)

SNV
Germline

Chr2:178583692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006595364 RCV006699593

NM_001267550.2(TTN):c.9304A>T (p.Arg3102Ter)

SNV
Germline

Chr2:178768015

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595385

NM_001267550.2(TTN):c.73888A>T (p.Arg24630Ter)

SNV
Germline

Chr2:178572244

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595398

NM_001267550.2(TTN):c.63424G>T (p.Glu21142Ter)

SNV
Germline

Chr2:178587983

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595411

NM_001267550.2(TTN):c.73060G>T (p.Glu24354Ter)

SNV
Germline

Chr2:178573072

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595412

NM_001267550.2(TTN):c.67802C>A (p.Ser22601Ter)

SNV
Germline

Chr2:178579228

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595414

NM_001267550.2(TTN):c.60950G>A (p.Trp20317Ter)

SNV
Germline

Chr2:178590775

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595415

NM_001267550.2(TTN):c.65376T>G (p.Tyr21792Ter)

SNV
Germline

Chr2:178583806

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595446

NM_001267550.2(TTN):c.46536G>A (p.Trp15512Ter)

SNV
Germline

Chr2:178619781

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595604

NM_001267550.2(TTN):c.62067G>A (p.Trp20689Ter)

SNV
Germline

Chr2:178589658

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595655

NM_001267550.2(TTN):c.28174+1G>A

SNV
Germline

Chr2:178711061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595663

NM_001267550.2(TTN):c.35629+1G>T

SNV
Germline

Chr2:178667637

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592184

NM_001267550.2(TTN):c.40223-2A>G

SNV
Germline

Chr2:178646561

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592224

NM_001267550.2(TTN):c.81370A>T (p.Lys27124Ter)

SNV
Germline

Chr2:178564762

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592281

NM_001267550.2(TTN):c.19147+1G>A

SNV
Germline

Chr2:178728890

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595871

NM_001267550.2(TTN):c.36110C>A (p.Ser12037Ter)

SNV
Germline

Chr2:178664860

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595876

NM_001267550.2(TTN):c.20555-2A>G

SNV
Germline

Chr2:178725651

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595886

NM_001267550.2(TTN):c.42025-1G>A

SNV
Germline

Chr2:178634850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595939

NM_001267550.2(TTN):c.35101G>T (p.Glu11701Ter)

SNV
Germline

Chr2:178672097

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603843

NM_001267550.2(TTN):c.92373T>A (p.Tyr30791Ter)

SNV
Germline

Chr2:178549253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594502

NM_001267550.2(TTN):c.25639G>T (p.Glu8547Ter)

SNV
Germline

Chr2:178717095

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591235

NM_001267550.2(TTN):c.40928-1G>A

SNV
Germline

Chr2:178636800

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591254

NM_001267550.2(TTN):c.103801G>T (p.Glu34601Ter)

SNV
Germline

Chr2:178532814

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591285

NM_001267550.2(TTN):c.79789G>T (p.Glu26597Ter)

SNV
Germline

Chr2:178566343

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591292

NM_001267550.2(TTN):c.81937G>T (p.Gly27313Ter)

SNV
Germline

Chr2:178564195

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591296

NM_001267550.2(TTN):c.46129C>T (p.Gln15377Ter)

SNV
Germline

Chr2:178620392

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594751

NM_001267550.2(TTN):c.64972+2T>C

SNV
Germline

Chr2:178584667

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594770

NM_001267550.2(TTN):c.63508+1G>T

SNV
Germline

Chr2:178587898

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594771

NM_001267550.2(TTN):c.68068A>T (p.Lys22690Ter)

SNV
Germline

Chr2:178578962

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594785

NM_001267550.2(TTN):c.57262+1G>T

SNV
Germline

Chr2:178597907

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594847

NM_001267550.2(TTN):c.75430C>T (p.Gln25144Ter)

SNV
Germline

Chr2:178570702

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV006594887 RCV006699592

NM_001267550.2(TTN):c.62242G>T (p.Glu20748Ter)

SNV
Germline

Chr2:178589483

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594949

NM_001267550.2(TTN):c.91564+1G>T

SNV
Germline

Chr2:178550966

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594973

NM_001267550.2(TTN):c.87118+1G>C

SNV
Germline

Chr2:178558340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006594974

NM_001267550.2(TTN):c.90938C>A (p.Ser30313Ter)

SNV
Germline

Chr2:178551962

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595019

NM_001267550.2(TTN):c.14066C>G (p.Ser4689Ter)

SNV
Germline

Chr2:178739167

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595054

NM_001267550.2(TTN):c.81588T>A (p.Tyr27196Ter)

SNV
Germline

Chr2:178564544

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595055

NM_001267550.2(TTN):c.32217G>A (p.Trp10739Ter)

SNV
Germline

Chr2:178688205

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595067

NM_001267550.2(TTN):c.78966T>A (p.Tyr26322Ter)

SNV
Germline

Chr2:178567166

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595072

NM_001267550.2(TTN):c.78937C>T (p.Gln26313Ter)

SNV
Germline

Chr2:178567195

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591443

NM_001267550.2(TTN):c.94828+1G>A

SNV
Germline

Chr2:178546599

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591495

NM_001267550.2(TTN):c.4815-1G>A

SNV
Germline

Chr2:178777050

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591515

NM_001267550.2(TTN):c.80012C>A (p.Ser26671Ter)

SNV
Germline

Chr2:178566120

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591533

NM_001267550.2(TTN):c.69776T>A (p.Leu23259Ter)

SNV
Germline

Chr2:178576356

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591567

NM_001267550.2(TTN):c.89504-1G>A

SNV
Germline

Chr2:178553397

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591581

NM_001267550.2(TTN):c.4619C>A (p.Ser1540Ter)

SNV
Germline

Chr2:178777446

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591587

NM_001267550.2(TTN):c.31271-1G>A

SNV
Germline

Chr2:178694907

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591599

NM_001267550.2(TTN):c.49726G>T (p.Glu16576Ter)

SNV
Germline

Chr2:178612995

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591600

NM_001267550.2(TTN):c.25002T>G (p.Tyr8334Ter)

SNV
Germline

Chr2:178718004

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591648

NM_001267550.2(TTN):c.98425C>T (p.Gln32809Ter)

SNV
Germline

Chr2:178539640

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591655

NM_001267550.2(TTN):c.3345G>A (p.Trp1115Ter)

SNV
Germline

Chr2:178782247

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591665

NM_001267550.2(TTN):c.77917C>T (p.Gln25973Ter)

SNV
Germline

Chr2:178568215

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591713

NM_001267550.2(TTN):c.81843T>G (p.Tyr27281Ter)

SNV
Germline

Chr2:178564289

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591737

NM_001267550.2(TTN):c.78598A>T (p.Arg26200Ter)

SNV
Germline

Chr2:178567534

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591746

NM_001267550.2(TTN):c.11952C>G (p.Tyr3984Ter)

SNV
Germline

Chr2:178741281

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591754

NM_001267550.2(TTN):c.84567T>G (p.Tyr28189Ter)

SNV
Germline

Chr2:178561565

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591783

NM_001267550.2(TTN):c.89503G>T (p.Glu29835Ter)

SNV
Germline

Chr2:178553502

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591785

NM_001267550.2(TTN):c.32555-1G>T

SNV
Germline

Chr2:178684750

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603577

NM_001267550.2(TTN):c.39211+2T>C

SNV
Germline

Chr2:178652262

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592598

NM_001267550.2(TTN):c.40633+1G>T

SNV
Germline

Chr2:178641240

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592703

NM_001267550.2(TTN):c.105288T>A (p.Tyr35096Ter)

SNV
Germline

Chr2:178531327

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006596282

NM_001267550.2(TTN):c.39565G>T (p.Glu13189Ter)

SNV
Germline

Chr2:178651303

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592840

NM_001267550.2(TTN):c.10012C>T (p.Gln3338Ter)

SNV
Germline

Chr2:178764279

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006593091

NM_001267550.2(TTN):c.65117G>A (p.Trp21706Ter)

SNV
Germline

Chr2:178584434

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006593283

NM_001267550.2(TTN):c.39547+1G>C

SNV
Germline

Chr2:178651452

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592334

NM_001267550.2(TTN):c.102561C>A (p.Tyr34187Ter)

SNV
Germline

Chr2:178534054

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006604156

NM_001267550.2(TTN):c.97677C>A (p.Tyr32559Ter)

SNV
Germline

Chr2:178541400

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592804

NM_001267550.2(TTN):c.47757C>A (p.Tyr15919Ter)

SNV
Germline

Chr2:178617328

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006604686

NM_001267550.2(TTN):c.11651T>A (p.Leu3884Ter)

SNV
Germline

Chr2:178741582

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600324

NM_001267550.2(TTN):c.19148-2A>G

SNV
Germline

Chr2:178728780

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600578

NM_001267550.2(TTN):c.39296-2A>C

SNV
Germline

Chr2:178651969

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006604056

NM_001267550.2(TTN):c.98832G>A (p.Trp32944Ter)

SNV
Germline

Chr2:178539103

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006604124

NM_001267550.2(TTN):c.12772C>T (p.Gln4258Ter)

SNV
Germline

Chr2:178740461

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600689

NM_001267550.2(TTN):c.54956G>A (p.Trp18319Ter)

SNV
Germline

Chr2:178602446

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600793

NM_001267550.2(TTN):c.21682+1G>T

SNV
Germline

Chr2:178723417

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600841

NM_001267550.2(TTN):c.40138G>T (p.Glu13380Ter)

SNV
Germline

Chr2:178647384

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600843

NM_001267550.2(TTN):c.51781C>T (p.Arg17261Ter)

SNV
Germline

Chr2:178609529

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006597435

NM_001267550.2(TTN):c.46356C>A (p.Cys15452Ter)

SNV
Germline

Chr2:178620061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006597498

NM_001267550.2(TTN):c.69364A>T (p.Lys23122Ter)

SNV
Germline

Chr2:178576971

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600172

NM_001267550.2(TTN):c.35629+1G>A

SNV
Germline

Chr2:178667637

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600278

NM_001267550.2(TTN):c.67438G>T (p.Gly22480Ter)

SNV
Germline

Chr2:178579759

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006596967

NM_001267550.2(TTN):c.98529G>A (p.Trp32843Ter)

SNV
Germline

Chr2:178539536

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006597045

NM_001267550.2(TTN):c.19714+1G>A

SNV
Germline

Chr2:178728109

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006593555

NM_001267550.2(TTN):c.45550C>T (p.Gln15184Ter)

SNV
Germline

Chr2:178621168

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006597196

NM_001267550.2(TTN):c.27435G>A (p.Trp9145Ter)

SNV
Germline

Chr2:178712487

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597612

NM_001267550.2(TTN):c.37543+1G>T

SNV
Germline

Chr2:178658704

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597617

NM_001267550.2(TTN):c.7856-1G>A

SNV
Germline

Chr2:178771472

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597618

NM_001267550.2(TTN):c.62251G>T (p.Glu20751Ter)

SNV
Germline

Chr2:178589474

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597620

NM_001267550.2(TTN):c.76439G>C (p.Arg25480Pro)

SNV
Germline

Chr2:178569693

Likely pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597621

NM_001267550.2(TTN):c.91476T>A (p.Tyr30492Ter)

SNV
Germline

Chr2:178551055

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597623

NM_001267550.2(TTN):c.24729C>A (p.Cys8243Ter)

SNV
Germline

Chr2:178718377

Pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006597629

NM_001267550.2(TTN):c.54603C>G (p.Tyr18201Ter)

SNV
Germline

Chr2:178604084

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006606008

NM_001267550.2(TTN):c.84681T>A (p.Tyr28227Ter)

SNV
Germline

Chr2:178561451

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006606062

NM_001267550.2(TTN):c.101743G>T (p.Glu33915Ter)

SNV
Germline

Chr2:178534872

Likely pathogenic

6 conditions
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV006606079 RCV006707957

NM_001267550.2(TTN):c.57403C>T (p.Gln19135Ter)

SNV
Germline

Chr2:178597679

Likely pathogenic

Dilated cardiomyopathy 1G

No Assertion Criteria Provided

1 SubmittersRCV006645843

NM_001267550.2(TTN):c.36449-1G>T

SNV
Germline

Chr2:178663711

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006634997

NM_001267550.2(TTN):c.89618G>A (p.Trp29873Ter)

SNV
Germline

Chr2:178553282

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006635089

NM_001267550.2(TTN):c.91404G>A (p.Trp30468Ter)

SNV
Unknown

Chr2:178551127

Pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006635209

NM_001267550.2(TTN):c.20689G>T (p.Glu6897Ter)

SNV
Germline

Chr2:178725515

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006635401

NM_001267550.2(TTN):c.27215C>G (p.Ser9072Ter)

SNV
Germline

Chr2:178712810

Pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006636473

NM_001267550.2(TTN):c.73988G>A (p.Trp24663Ter)

SNV
Germline

Chr2:178572144

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006647642

NM_001267550.2(TTN):c.50374G>T (p.Glu16792Ter)

SNV
Germline

Chr2:178611935

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652853

NM_001267550.2(TTN):c.44913G>T (p.Lys14971Asn)

SNV
Germline

Chr2:178622670

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652927

NM_001267550.2(TTN):c.100018C>T (p.Gln33340Ter)

SNV
Germline

Chr2:178537091

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652955

NM_001267550.2(TTN):c.26700C>G (p.Tyr8900Ter)

SNV
Germline

Chr2:178713958

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652986

NM_001267550.2(TTN):c.43777C>T (p.Gln14593Ter)

SNV
Germline

Chr2:178631271

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652997

NM_001267550.2(TTN):c.5503C>T (p.Gln1835Ter)

SNV
Germline

Chr2:178776361

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006652999

NM_001267550.2(TTN):c.46369G>T (p.Glu15457Ter)

SNV
Germline

Chr2:178620048

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006661780

NM_001267550.2(TTN):c.71692G>T (p.Glu23898Ter)

SNV
Germline

Chr2:178574440

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006661781

NM_001267550.2(TTN):c.77038G>T (p.Glu25680Ter)

SNV
Germline

Chr2:178569094

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657495

NM_001267550.2(TTN):c.55229C>G (p.Ser18410Ter)

SNV
Germline

Chr2:178602042

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657498

NM_001267550.2(TTN):c.69716-1G>A

SNV
Germline

Chr2:178576417

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657501

NM_001267550.2(TTN):c.54541G>T (p.Gly18181Ter)

SNV
Germline

Chr2:178604146

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657504

NM_001267550.2(TTN):c.100603G>T (p.Glu33535Ter)

SNV
Germline

Chr2:178536144

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657515

NM_001267550.2(TTN):c.43287T>A (p.Cys14429Ter)

SNV
Germline

Chr2:178632719

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657516

NM_001267550.2(TTN):c.83116G>T (p.Glu27706Ter)

SNV
Germline

Chr2:178563016

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006657519

NM_001267550.2(TTN):c.54381+1G>T

SNV
Germline

Chr2:178604707

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006676364

NM_001267550.2(TTN):c.74055C>G (p.Tyr24685Ter)

SNV
Germline

Chr2:178572077

Likely pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006692127

NM_001267550.2(TTN):c.88594+1G>A

SNV
Germline

Chr2:178554864

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006693767

NM_001267550.2(TTN):c.40267G>T (p.Glu13423Ter)

SNV
Germline

Chr2:178646515

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006694157

NM_001267550.2(TTN):c.61579C>T (p.Gln20527Ter)

SNV
Germline

Chr2:178590146

Likely pathogenic

Tibial muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006694231

NM_001267550.2(TTN):c.64473T>A (p.Tyr21491Ter)

SNV
Germline

Chr2:178585271

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006694272

NM_001267550.2(TTN):c.86449A>T (p.Arg28817Ter)

SNV
Germline

Chr2:178559683

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006698647

NM_001267550.2(TTN):c.9654C>A (p.Tyr3218Ter)

SNV
Germline

Chr2:178766430

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006698649

NM_001267550.2(TTN):c.12904A>T (p.Lys4302Ter)

SNV
Germline

Chr2:178740329

Likely pathogenic

Autosomal recessive TTN-related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006699652

NM_001267550.2(TTN):c.102421C>T (p.Gln34141Ter)

SNV
Germline

Chr2:178534194

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006699654

NM_001267550.2(TTN):c.11311+3628G>T

SNV
Germline

Chr2:178749496

Likely pathogenic

Autosomal recessive TTN-related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006699660

NM_001267550.2(TTN):c.2264C>A (p.Ser755Ter)

SNV
Germline

Chr2:178785954

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006699662

NM_001267550.2(TTN):c.52111G>T (p.Gly17371Ter)

SNV
Germline

Chr2:178608900

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006699669

NM_001267550.2(TTN):c.38797G>T (p.Glu12933Ter)

SNV
Germline

Chr2:178653119

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006705262

NM_001267550.2(TTN):c.67876A>T (p.Lys22626Ter)

SNV
Germline

Chr2:178579154

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006705944

NM_001267550.2(TTN):c.103709G>A (p.Trp34570Ter)

SNV
Germline

Chr2:178532906

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006706119

NM_001267550.2(TTN):c.75199G>T (p.Glu25067Ter)

SNV
Germline

Chr2:178570933

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006708435

NM_001267550.2(TTN):c.86364G>A (p.Trp28788Ter)

SNV
Germline

Chr2:178559768

Pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712258

NM_001267550.2(TTN):c.71444C>G (p.Ser23815Ter)

SNV
Germline

Chr2:178574688

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712263

NM_001267550.2(TTN):c.4207A>T (p.Arg1403Ter)

SNV
Germline

Chr2:178778875

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712265

NM_001267550.2(TTN):c.46747A>T (p.Lys15583Ter)

SNV
Germline

Chr2:178618803

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006726445

NM_001267550.2(TTN):c.48742C>T (p.Gln16248Ter)

SNV
Germline

Chr2:178614865

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712195

NM_001267550.2(TTN):c.100551C>A (p.Cys33517Ter)

SNV
Germline

Chr2:178536196

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712198

NM_001267550.2(TTN):c.89940G>A (p.Trp29980Ter)

SNV
Germline

Chr2:178552960

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712206

NM_001267550.2(TTN):c.93965C>G (p.Ser31322Ter)

SNV
Germline

Chr2:178547661

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712209

NM_001267550.2(TTN):c.2368C>T (p.Gln790Ter)

SNV
Germline

Chr2:178785850

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712210

NM_001267550.2(TTN):c.54673G>T (p.Gly18225Ter)

SNV
Germline

Chr2:178604014

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712211

NM_001267550.2(TTN):c.40522A>T (p.Lys13508Ter)

SNV
Germline

Chr2:178642273

Likely pathogenic

Cardiovascular phenotype

Criteria Provided
Single Submitter

1 SubmittersRCV006712216

NM_001267550.2(TTN):c.76027A>T (p.Lys25343Ter)

SNV
Unknown

Chr2:178570105

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006730249

NM_001267550.2(TTN):c.11421C>G (p.Tyr3807Ter)

SNV
Germline

Chr2:178741812

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006731276

NM_001267550.2(TTN):c.104928C>G (p.Tyr34976Ter)

SNV
Germline

Chr2:178531687

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006734718

NM_001267550.2(TTN):c.48901C>T (p.Gln16301Ter)

SNV
Germline

Chr2:178614613

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006731502

NM_001267550.2(TTN):c.65576-1G>C

SNV
Germline

Chr2:178583228

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006741185

NM_001267550.2(TTN):c.85878T>G (p.Tyr28626Ter)

SNV
Germline

Chr2:178560254

Likely pathogenic

Autosomal recessive titinopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006741944

NM_001267550.2(TTN):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr2:178793472

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006742099

NM_001267550.2(TTN):c.66623T>G (p.Leu22208Ter)

SNV
Germline

Chr2:178581645

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006742101

NM_001267550.2(TTN):c.45436G>T (p.Glu15146Ter)

SNV
Germline

Chr2:178621282

Likely pathogenic

Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006742108