Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_182961.4(SYNE1):c.15918-12A>G	SNV Germline	Chr6:152321898	Pathogenic	Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA252215	rs_606231134	6 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	SNV Germline	Chr6:152140027	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided not specified Autosomal recessive ataxia, Beauce type Intellectual disability Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA115488	rs_119103248	11 SubmittersRCV000002424 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV000535163
NM_000117.3(EMD):c.1A>G (p.Met1Val)	SNV Germline	ChrX:154379485	Pathogenic	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA121381	rs_267606782	3 SubmittersRCV000254894 RCV000802953
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	SNV Germline	ChrX:154379737	Pathogenic	X-linked Emery-Dreifuss muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA121384	rs_132630262	6 SubmittersRCV000011926 RCV000078128 RCV002381248
NM_000117.3(EMD):c.548C>A (p.Pro183His)	SNV Germline	ChrX:154380980	Pathogenic	X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Single Submitter	CA121387	rs_104894805	2 SubmittersRCV001224353
NM_000117.3(EMD):c.547C>A (p.Pro183Thr)	SNV Germline	ChrX:154380979	Pathogenic	X-linked Emery-Dreifuss muscular dystrophy	No Assertion Criteria Provided	CA121389	rs_104894806	1 SubmittersRCV000011929
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)	SNV Germline	ChrX:136210023	Pathogenic	Emery-Dreifuss muscular dystrophy 6	No Assertion Criteria Provided	CA121558	rs_122459148	1 SubmittersRCV000012312
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)	SNV Germline	ChrX:136208578	Pathogenic	Emery-Dreifuss muscular dystrophy 6 X-linked myopathy with postural muscle atrophy	Criteria Provided Single Submitter	CA121565	rs_122459149	2 SubmittersRCV000012313 RCV003511982
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	SNV Germline	Chr1:156114934	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Single Submitter	CA017675	rs_61046466	4 SubmittersRCV000015564 RCV000041328 RCV000057350
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	SNV Germline	Chr1:156136413	Pathogenic/Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2 Muscular dystrophy Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA017033	rs_58932704	18 SubmittersRCV000015565 RCV000057273 RCV000472112 RCV000500734 RCV001095717 RCV003313922 RCV001813989
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	SNV Germline/somatic	Chr1:156137204	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017498	rs_57520892	6 SubmittersRCV000015569 RCV000015570 RCV000700159 RCV000057327 RCV001375641 RCV004018633
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)	SNV Germline	Chr1:156137213	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided	No Assertion Criteria Provided	CA017541	rs_60934003	2 SubmittersRCV000015571 RCV000057333
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr1:156136985	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Laminopathy Condition: not provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive Charcot-Marie-Tooth disease type 2 Monogenic diabetes 11 conditions Cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014814	rs_11575937	17 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004532361
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)	SNV Germline	Chr1:156134829	Pathogenic	Emery-Dreifuss muscular dystrophy 3, autosomal recessive Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant	No Assertion Criteria Provided	CA018412	rs_28928901	3 SubmittersRCV000015583 RCV000057440 RCV004577319
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	SNV Germline	Chr1:156136094	Pathogenic	Muscular dystrophy Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Sudden unexplained death Cardiovascular phenotype Dilated cardiomyopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA016651	rs_61672878	9 SubmittersRCV000503996 RCV000547164 RCV000681569 RCV000057235 RCV001089610 RCV002321484 RCV003319170
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	SNV Germline	Chr1:156130658	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018038	rs_60864230	3 SubmittersRCV000015602 RCV000057398 RCV000686691
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	SNV Germline	Chr1:156134942	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided	Criteria Provided Single Submitter	CA018615	rs_58048078	5 SubmittersRCV000015605 RCV000057457
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	SNV Germline	Chr1:156137210	Conflicting classifications of pathogenicity	Condition: not provided Mandibuloacral dysplasia with type A lipodystrophy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA017534	rs_60580541	5 SubmittersRCV000057332 RCV000015608 RCV002399329 RCV002467496 RCV003234906
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr1:156137017	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided	Criteria Provided Single Submitter	CA017298	rs_56699480	3 SubmittersRCV000015609 RCV000057304
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	SNV Germline	Chr1:156134910	Pathogenic/Likely pathogenic	Congenital muscular dystrophy due to LMNA mutation Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018559	rs_121912496	10 SubmittersRCV000015621 RCV000057452 RCV000201142 RCV000814531
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	SNV Germline	Chr1:156136036	Pathogenic	Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease type 2 Muscular dystrophy Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA016555	rs_60458016	9 SubmittersRCV000015623 RCV000015622 RCV000057227 RCV000470514 RCV000502108 RCV001420791
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)	SNV Germline	ChrX:154380902	Conflicting classifications of pathogenicity	X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 1, X-linked not specified	Criteria Provided Conflicting Classifications	CA325734	rs_148515772	3 SubmittersRCV000686102 RCV003492301 RCV003103716
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)	SNV Germline	Chr3:14135823	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular dysplasia 5 Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy, autosomal dominant 3 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Criteria Provided Conflicting Classifications	CA024760	rs_193922707	5 SubmittersRCV000030554 RCV000642420 RCV003153307 RCV003352751 RCV002482923
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)	SNV Germline	Chr3:14130912	Pathogenic	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	No Assertion Criteria Provided	CA024638	rs_397514044	1 SubmittersRCV000033854
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)	SNV Germline	Chr3:14130930	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 7, autosomal dominant Arrhythmogenic right ventricular dysplasia 5 Condition: not provided not specified Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA024641	rs_144811578	6 SubmittersRCV000033855 RCV000553145 RCV000766912 RCV000183950 RCV000621435 RCV000777738
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	SNV Germline	Chr1:156134839	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 3, autosomal recessive Cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Abnormality of the musculature	Criteria Provided Conflicting Classifications	CA018437	rs_199474724	8 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001781340 RCV001384595 RCV003996150 RCV001814022
NM_000117.3(EMD):c.144C>T (p.Leu48=)	SNV Germline	ChrX:154379751	Conflicting classifications of pathogenicity	not specified X-linked Emery-Dreifuss muscular dystrophy Cardiovascular phenotype Cardiomyopathy EMD-related disorder	Criteria Provided Conflicting Classifications	CA131115	rs_200537612	11 SubmittersRCV000035104 RCV000461030 RCV000617921 RCV000770586 RCV003904897
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)	SNV Germline	ChrX:154380240	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Conflicting Classifications	CA131118	rs_137977232	8 SubmittersRCV000035105 RCV000770588 RCV002426545 RCV000756071 RCV001085397
NM_000117.3(EMD):c.571A>G (p.Met191Val)	SNV Germline	ChrX:154381003	Conflicting classifications of pathogenicity	not specified Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 1, X-linked	Criteria Provided Conflicting Classifications	CA131133	rs_397515752	4 SubmittersRCV000035110 RCV001703449 RCV001852704 RCV003492339
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)	SNV Germline	ChrX:154381078	Conflicting classifications of pathogenicity	not specified X-linked Emery-Dreifuss muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA131136	rs_147920229	5 SubmittersRCV000035111 RCV001089148 RCV002354186 RCV000732781
NM_024334.3(TMEM43):c.705+7G>A	SNV Germline	Chr3:14134898	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 5 Cardiomyopathy Cardiovascular phenotype Emery-Dreifuss muscular dystrophy 7, autosomal dominant Arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA024745	rs_201916031	13 SubmittersRCV000039391 RCV000587714 RCV001085012 RCV001170683 RCV004017330 RCV002504905
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	SNV Germline	Chr3:14139244	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 5 Condition: not provided Cardiomyopathy Emery-Dreifuss muscular dystrophy 7, autosomal dominant Arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy, autosomal dominant 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA024803	rs_199526104	12 SubmittersRCV000039395 RCV000457565 RCV000766918 RCV000776154 RCV002496628 RCV003372610
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr1:156136093	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Multiple Submitters No Conflicts	CA016641	rs_397517889	11 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	SNV Germline	Chr1:156136257	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Primary familial dilated cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA016870	rs_61094188	18 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000627127 RCV000769728 RCV001172616 RCV002345327 RCV003996453
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	SNV Germline	Chr1:156137190	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA017459	rs_149339264	17 SubmittersRCV000041322 RCV000242680 RCV000233927 RCV000262946 RCV000285909 RCV000289458 RCV000337260 RCV000320484 RCV000340752 RCV000377490 RCV000399953 RCV000380292 RCV000777760 RCV001093764 RCV001098994 RCV001310873 RCV001172631
NM_170707.4(LMNA):c.357C>T (p.Arg119=)	SNV Germline	Chr1:156130617	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014926	rs_41313880	25 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001096443 RCV001101880 RCV001101881 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001173420 RCV004528231
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	SNV Germline	Chr1:156115268	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Hypertrophic cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017949	rs_397517901	14 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001098094 RCV001182267 RCV003996462 RCV002336155 RCV004558292
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	SNV Germline	Chr1:156134838	Pathogenic	Dilated cardiomyopathy 1A Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018429	rs_60682848	11 SubmittersRCV000056001 RCV000057442 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	SNV Germline	Chr1:156136113	Conflicting classifications of pathogenicity	Condition: not provided Dilated Cardiomyopathy, Dominant Hutchinson-Gilford syndrome not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA016698	rs_267607603	9 SubmittersRCV000057240 RCV000259414 RCV000263024 RCV000259097 RCV000289312 RCV000293812 RCV000298159 RCV000324542 RCV000327855 RCV000355460 RCV000377531 RCV000384768 RCV000536971 RCV000619516 RCV000776145 RCV001093854 RCV001098597
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	SNV Germline	Chr1:156115052	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA017029	rs_58436778	4 SubmittersRCV000057272 RCV000692072 RCV002468560
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2 Hutchinson-Gilford syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017504	rs_57629361	6 SubmittersRCV000057328 RCV000201062 RCV001045262 RCV000986432
NM_170707.4(LMNA):c.1608+5G>C	SNV Germline	Chr1:156137237	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Cardiovascular phenotype	Criteria Provided Single Submitter	CA017561	rs_267607539	5 SubmittersRCV000015589 RCV000057336 RCV002390205
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)	SNV Germline	Chr1:156137678	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy not specified Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease Cardiomyopathy Monogenic diabetes Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017642	rs_267607613	13 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000812762 RCV001004948 RCV000785171 RCV001174246 RCV001185752 RCV001174410 RCV003996506
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	SNV Germline	Chr1:156134860	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA018472	rs_57207746	3 SubmittersRCV000057445 RCV000201054 RCV001052813
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	SNV Germline	Chr1:156134911	Pathogenic/Likely pathogenic	Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Muscular dystrophy Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2B1 Abnormality of the musculature Congenital muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA018567	rs_59332535	17 SubmittersRCV000057453 RCV000201012 RCV000496185 RCV000501991 RCV000548477 RCV000662104 RCV001814042 RCV004018991 RCV003230389
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)	SNV Germline	Chr6:152148369	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4053105	rs_267600861	6 SubmittersRCV000343407 RCV000647639 RCV001151473 RCV001151474 RCV004528268
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)	SNV Germline	Chr6:152155025	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4053280	rs_267600862	4 SubmittersRCV000301160 RCV000398017 RCV001854262 RCV001753480
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)	SNV Germline	Chr6:152350676	Conflicting classifications of pathogenicity	Intellectual disability Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA145517	rs_180727534	7 SubmittersRCV000077791 RCV000393083 RCV000284405 RCV000815827 RCV000713587
NM_000117.3(EMD):c.450-2A>G	SNV Germline	ChrX:154380880	Pathogenic/Likely pathogenic	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 1, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA220368	rs_398123158	3 SubmittersRCV000078132 RCV000816244 RCV003492432
NM_182961.4(SYNE1):c.3669+4C>G	SNV Germline	Chr6:152447454	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA155464	rs_376511242	4 SubmittersRCV000118480 RCV000536058 RCV000726269
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)	SNV Germline	Chr6:152425392	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA231538	rs_587780469	2 SubmittersRCV000118487 RCV002055309
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser)	SNV Germline	Chr14:64122422	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA155533	rs_146894065	2 SubmittersRCV000118512 RCV001854571
NM_170707.4(LMNA):c.1488+14C>T	SNV Germline	Chr1:156137042	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017307	rs_377700689	10 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	SNV Germline	Chr1:156137679	Conflicting classifications of pathogenicity	not specified Peripheral neuropathy Condition: not provided Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1S Cardiovascular phenotype Cardiomyopathy Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation Lipodystrophy 7 conditions LMNA-related disorder Autosomal semi-dominant severe lipodystrophic laminopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017649	rs_142191737	23 SubmittersRCV000150955 RCV000449630 RCV000505801 RCV000468904 RCV000491650 RCV000621850 RCV000771819 RCV001101061 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001100810 RCV001101055 RCV001101062 RCV001248958 RCV001781492 RCV004532675 RCV003993830 RCV003998208
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)	SNV Germline	Chr3:14132581	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 5 Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, autosomal dominant Auditory neuropathy, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA024692	rs_544554435	9 SubmittersRCV000156279 RCV000247251 RCV000642410 RCV001186917 RCV001731402 RCV002484950
NM_000117.3(EMD):c.266-2A>G	SNV Germline	ChrX:154380232	Pathogenic	Neuromuscular disease Condition: not provided Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273149	rs_727503036	4 SubmittersRCV000150647 RCV000727586 RCV001280616
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	SNV Germline	ChrX:154381030	Conflicting classifications of pathogenicity	not specified X-linked Emery-Dreifuss muscular dystrophy Condition: not provided Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA176027	rs_374981936	6 SubmittersRCV000150648 RCV000638213 RCV001560049 RCV001831937 RCV002354342
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)	SNV Germline	Chr3:14135822	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 5 Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, autosomal dominant Auditory neuropathy, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA024757	rs_139842014	7 SubmittersRCV000157523 RCV000467886 RCV000523010 RCV002408708 RCV002492613
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)	SNV Germline	Chr3:14129520	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 5 Cardiovascular phenotype Emery-Dreifuss muscular dystrophy 7, autosomal dominant Arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy, autosomal dominant 3	Criteria Provided Conflicting Classifications	CA024600	rs_144334386	13 SubmittersRCV000172113 RCV000770178 RCV001047322 RCV002362882 RCV002492722
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys)	SNV Germline	Chr14:64210042	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA239416	rs_200152990	3 SubmittersRCV000173938 RCV001114656
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)	SNV Germline	Chr6:152244594	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA239421	rs_147143947	10 SubmittersRCV000202692 RCV000713621 RCV000813932 RCV001152070 RCV001152071 RCV002516606 RCV004535192
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)	SNV Germline	Chr14:64214272	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA239424	rs_141741640	9 SubmittersRCV000173944 RCV000548971 RCV001288489 RCV003955019
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys)	SNV Germline	Chr14:64225344	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA239699	rs_201472187	3 SubmittersRCV000174198 RCV000550662
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=)	SNV Germline	Chr6:152220884	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA239708	rs_376651419	2 SubmittersRCV000174201 RCV002056919
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)	SNV Germline	Chr6:152176541	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA239987	rs_141315921	6 SubmittersRCV000174437 RCV000871390 RCV001697204 RCV002517677 RCV004539613
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)	SNV Germline	Chr6:152484879	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA240160	rs_146366996	10 SubmittersRCV000174608 RCV000327087 RCV000370223 RCV000713584 RCV001081601 RCV004539614
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)	SNV Germline	Chr6:152151654	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA240197	rs_144056525	7 SubmittersRCV000174636 RCV000323013 RCV000382388 RCV000554366 RCV001711347 RCV004539617
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)	SNV Germline	Chr6:152148069	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA201107	rs_141716975	13 SubmittersRCV000174640 RCV000321230 RCV000710252 RCV000987801 RCV001081859 RCV002516637
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)	SNV Germline	Chr6:152148154	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA240207	rs_794727110	2 SubmittersRCV000174641 RCV001503696
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)	SNV Germline	Chr6:152148194	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA240210	rs_142985368	7 SubmittersRCV000174642 RCV000285979 RCV000380430 RCV000647647 RCV001078935
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)	SNV Germline	Chr6:152148298	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Intellectual disability Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA240213	rs_141586001	8 SubmittersRCV000174643 RCV000710251 RCV000647654 RCV001252114 RCV002516638 RCV004528929
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)	SNV Germline	Chr6:152145533	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified	Criteria Provided Conflicting Classifications	CA240219	rs_770649913	4 SubmittersRCV000174646 RCV001497511 RCV003398886
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)	SNV Germline	Chr6:152136660	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA240407	rs_118187988	8 SubmittersRCV000174819 RCV000268696 RCV000328497 RCV000550060 RCV001083531
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)	SNV Germline	Chr6:152135141	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA240413	rs_41291047	12 SubmittersRCV000625938 RCV000694728 RCV000710253 RCV001156685 RCV004020072 RCV004545754
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)	SNV Germline	Chr6:152628309	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA241816	rs_139600654	4 SubmittersRCV000175963 RCV000701022 RCV001154922 RCV001156596
NM_182961.4(SYNE1):c.2569-8C>T	SNV Germline	Chr6:152456052	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA242369	rs_376033376	5 SubmittersRCV000316558 RCV000373479 RCV000724832 RCV001081958
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)	SNV Germline	Chr14:63997383	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA242588	rs_192128801	4 SubmittersRCV000176597 RCV001087661
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)	SNV Germline	Chr6:152451159	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA242715	rs_143093185	4 SubmittersRCV000176691 RCV000529381
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)	SNV Germline	Chr6:152447591	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA243061	rs_117461489	10 SubmittersRCV000704237 RCV000724438 RCV001156268 RCV001156269 RCV004537420
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	SNV Germline	Chr6:152441172	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA244179	rs_149109801	11 SubmittersRCV000177665 RCV000298901 RCV000360643 RCV000540415 RCV001081631
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)	SNV Germline	Chr14:64016590	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA244657	rs_764521226	4 SubmittersRCV000177756 RCV001112395 RCV004020116
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)	SNV Germline	Chr6:152428359	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Intellectual disability not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA244907	rs_138617999	13 SubmittersRCV000324886 RCV000379472 RCV000560151 RCV000713672 RCV001252118 RCV003317128 RCV004537453
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)	SNV Germline	Chr14:64022801	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA244963	rs_201327410	4 SubmittersRCV000177963 RCV001223487 RCV004020119
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)	SNV Germline	Chr6:152425519	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Inborn genetic diseases Condition: not provided Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA245026	rs_150702500	6 SubmittersRCV000178011 RCV000392049 RCV000549055 RCV002516764 RCV001721121 RCV000340175
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)	SNV Germline	Chr6:152416438	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA245585	rs_149146258	12 SubmittersRCV000178473 RCV000362586 RCV000309218 RCV000756737 RCV001079411
NM_182961.4(SYNE1):c.6231-7A>G	SNV Germline	Chr6:152409716	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA245676	rs_368858186	2 SubmittersRCV000178541 RCV002517737
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)	SNV Germline	Chr6:152401233	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA202961	rs_138004884	8 SubmittersRCV000178637 RCV000299095 RCV000402645 RCV000713683 RCV001082120
NM_182961.4(SYNE1):c.6826-6A>G	SNV Germline	Chr6:152401347	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA245825	rs_183683592	8 SubmittersRCV000265036 RCV000329471 RCV000724200 RCV001089311
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)	SNV Germline	Chr14:64053143	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA245851	rs_200742016	6 SubmittersRCV000178677 RCV001085735 RCV000724424 RCV003917669
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)	SNV Germline	Chr14:64051889	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA245855	rs_199561218	5 SubmittersRCV000696837 RCV000713721
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)	SNV Germline	Chr14:64052824	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA245857	rs_200909650	6 SubmittersRCV000178680 RCV000647531 RCV004020129
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)	SNV Germline	Chr6:152395581	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA246320	rs_113163375	5 SubmittersRCV000179096 RCV000713689 RCV001080529
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)	SNV Germline	Chr6:152391305	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246340	rs_117480635	7 SubmittersRCV000179112 RCV000276858 RCV000369171 RCV000533715 RCV001080046 RCV002517748
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)	SNV Germline	Chr6:152387156	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA246401	rs_757104773	4 SubmittersRCV000252722 RCV000724249 RCV001412128
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)	SNV Germline	Chr14:64080605	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA246452	rs_144596211	4 SubmittersRCV000179186 RCV001086536
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)	SNV Germline	Chr6:152376557	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA246486	rs_117360770	8 SubmittersRCV000179213 RCV000349953 RCV000388054 RCV000713694 RCV001089269 RCV004537483
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	SNV Germline	ChrX:154380886	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy not specified Emery-Dreifuss muscular dystrophy 1, X-linked	Criteria Provided Conflicting Classifications	CA246531	rs_376456050	10 SubmittersRCV000179255 RCV000616618 RCV002298506 RCV003491930
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)	SNV Germline	Chr6:152362209	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA246940	rs_145287138	3 SubmittersRCV000179645 RCV000304390 RCV000354585 RCV002054136
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)	SNV Germline	Chr6:152358506	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA246974	rs_148522587	7 SubmittersRCV000179666 RCV000385530 RCV000295905 RCV000536965
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)	SNV Germline	Chr6:152353641	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA246990	rs_148028681	6 SubmittersRCV000179681 RCV000647710 RCV001078572 RCV004539685
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=)	SNV Germline	Chr14:64122382	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA247422	rs_141379692	3 SubmittersRCV000180040 RCV001078948
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=)	SNV Germline	Chr6:152350660	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA247426	rs_794727886	2 SubmittersRCV000180043 RCV001423609
NM_182914.3(SYNE2):c.13918-6T>C	SNV Germline	Chr14:64128446	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA247449	rs_187859624	4 SubmittersRCV000180063 RCV001085053 RCV003955093
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)	SNV Germline	Chr6:152334238	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA247454	rs_141202420	5 SubmittersRCV000269987 RCV000306512 RCV000724520 RCV001081777
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)	SNV Germline	Chr6:152330422	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA247458	rs_41301343	10 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000714610 RCV000710240 RCV004537501
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)	SNV Germline	Chr6:152329916	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA247461	rs_141057568	6 SubmittersRCV000180076 RCV000367243 RCV000274818 RCV000527002 RCV001704857
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)	SNV Germline	Chr6:152331113	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA247464	rs_111511993	6 SubmittersRCV000302936 RCV000403879 RCV000724521 RCV001085969
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)	SNV Germline	Chr6:152331584	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA247470	rs_140136749	7 SubmittersRCV000339452 RCV000377824 RCV000713595 RCV001085663 RCV004537502
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)	SNV Germline	Chr6:152326059	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA209917	rs_139170018	8 SubmittersRCV000195238 RCV000325682 RCV000382649 RCV000542729 RCV000710243
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)	SNV Germline	Chr6:152325173	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA247861	rs_138368397	5 SubmittersRCV000180405 RCV000647614 RCV001657961
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)	SNV Germline	Chr6:152323532	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA247873	rs_201313856	8 SubmittersRCV000180411 RCV000287552 RCV000384250 RCV000689662 RCV000724801
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)	SNV Germline	Chr14:64143910	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA247888	rs_143088941	4 SubmittersRCV000180420 RCV001523482 RCV003937637
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)	SNV Germline	Chr14:64158760	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA247901	rs_74975380	4 SubmittersRCV000180430 RCV001084063
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)	SNV Germline	Chr14:64158689	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder not specified	Criteria Provided Conflicting Classifications	CA247903	rs_149354607	7 SubmittersRCV000688612 RCV000724664 RCV003937639 RCV004020171
NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr)	SNV Germline	Chr14:64162172	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA247917	rs_140265039	2 SubmittersRCV000180443 RCV001088614
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)	SNV Germline	Chr14:64163507	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA247923	rs_148492034	5 SubmittersRCV000180447 RCV000259810 RCV003917680
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	SNV Germline	Chr1:156137175	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Limb-girdle muscular dystrophy, recessive Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Condition: not provided Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017421	rs_41314035	20 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000274426 RCV000309672 RCV000306169 RCV000331994 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001093871 RCV001100975 RCV001172636 RCV003996588
NM_182914.3(SYNE2):c.16480-10C>G	SNV Germline	Chr14:64165275	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA248288	rs_768388576	3 SubmittersRCV000713708 RCV001413927
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)	SNV Germline	Chr6:152301905	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA248300	rs_148731167	4 SubmittersRCV000180738 RCV000285052 RCV000538886 RCV000339826 RCV001704859
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)	SNV Germline	Chr14:64167345	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA248303	rs_149227847	6 SubmittersRCV000180739 RCV000526342 RCV002469047 RCV003955103
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=)	SNV Germline	Chr6:152294053	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA248317	rs_550385131	2 SubmittersRCV000180746 RCV002054157
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)	SNV Germline	Chr6:152294013	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA248320	rs_113962905	8 SubmittersRCV000180747 RCV000275868 RCV000371160 RCV001085970 RCV001706154
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)	SNV Germline	Chr6:152293983	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Intellectual disability not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA248323	rs_147998933	14 SubmittersRCV000261210 RCV000297752 RCV000542124 RCV000710246 RCV001252117 RCV003317130 RCV004537517
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=)	SNV Germline	Chr6:152278230	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA248344	rs_769588658	2 SubmittersRCV000180765 RCV002054159
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	SNV Germline	Chr1:156130658	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018032	rs_60864230	10 SubmittersRCV000182356 RCV000204542 RCV001098184 RCV001098185 RCV001096448 RCV001096449 RCV001098186 RCV001098188 RCV001098187 RCV001098189 RCV001098190 RCV001098191 RCV001191911 RCV002372114 RCV003996714
NM_170707.4(LMNA):c.471G>A (p.Thr157=)	SNV Germline	Chr1:156130731	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018129	rs_150645079	15 SubmittersRCV000182358 RCV000778038 RCV000727266 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	SNV Germline	Chr3:14135170	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy, autosomal dominant 3 Emery-Dreifuss muscular dystrophy 7, autosomal dominant Arrhythmogenic right ventricular dysplasia 5	Criteria Provided Conflicting Classifications	CA024748	rs_367910936	9 SubmittersRCV000183939 RCV000618132 RCV000766915 RCV000769156 RCV002485232 RCV000642423
NM_000117.3(EMD):c.187+1G>T	SNV Germline	ChrX:154379795	Pathogenic	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA335148	rs_794729010	2 SubmittersRCV000497569 RCV001037353
NM_000117.3(EMD):c.449+5G>A	SNV Germline	ChrX:154380807	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA335149	rs_370840449	5 SubmittersRCV000183442 RCV000804499 RCV001271616 RCV002326991
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	SNV Germline	ChrX:154381103	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 1, X-linked	Criteria Provided Conflicting Classifications	CA335159	rs_782559230	6 SubmittersRCV000183446 RCV000638226 RCV001271620 RCV003491932
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	SNV Germline	Chr6:152143733	Pathogenic	Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA277296	rs_797046025	2 SubmittersRCV000194323 RCV003765237
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)	SNV Germline	Chr6:152148206	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA206679	rs_201029723	3 SubmittersRCV000193297 RCV000346757 RCV000291749 RCV000951589
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)	SNV Germline	Chr6:152239573	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA209940	rs_190673256	4 SubmittersRCV000195255 RCV000554123 RCV001288032
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)	SNV Germline	Chr6:152323601	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA206616	rs_797046023	2 SubmittersRCV000193259 RCV003765236
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)	SNV Germline	Chr6:152331354	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA205828	rs_139075013	6 SubmittersRCV000192775 RCV000366885 RCV000733162 RCV000714721 RCV001857703
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)	SNV Germline	Chr14:63949937	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA207018	rs_139238702	3 SubmittersRCV000193493 RCV000556513
NM_170707.4(LMNA):c.810+1G>C	SNV Germline	Chr1:156134976	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Single Submitter	CA277528	rs_267607632	1 SubmittersRCV000199480
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)	SNV Germline	Chr6:152236240	Pathogenic	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Multiple Submitters No Conflicts	CA351316	rs_780451185	3 SubmittersRCV000993149 RCV000995657 RCV001381375
NM_170707.4(LMNA):c.937-8C>A	SNV Germline	Chr1:156135893	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA054885	rs_751707982	6 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096750 RCV001096752 RCV001098488 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001697242
NM_000117.3(EMD):c.400-9C>T	SNV Germline	ChrX:154380744	Conflicting classifications of pathogenicity	not specified X-linked Emery-Dreifuss muscular dystrophy Condition: not provided Emery-Dreifuss muscular dystrophy	Criteria Provided Conflicting Classifications	CA10561599	rs_782061626	9 SubmittersRCV000219256 RCV000608494 RCV000726976 RCV001828062
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	SNV Germline	ChrX:154380781	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy X-linked Emery-Dreifuss muscular dystrophy not specified Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561604	rs_139983160	11 SubmittersRCV000725641 RCV000770590 RCV001081535 RCV001729471 RCV001828104 RCV002327099
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	SNV Germline	Chr1:156137027	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions Hutchinson-Gilford syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Cardiomyopathy Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050321	rs_200466188	15 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001100889 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001098789 RCV001100613 RCV001100618 RCV001100619 RCV001100620 RCV001180056 RCV002392729 RCV002494678 RCV003998908
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)	SNV Germline	Chr14:64031299	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7220854	rs_45590135	7 SubmittersRCV000239148 RCV000556315 RCV001288500
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)	SNV Germline	Chr6:152283981	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055035	rs_138039375	5 SubmittersRCV000248584 RCV000725762 RCV001087053
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)	SNV Germline	Chr3:14129490	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 5 Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, autosomal dominant Auditory neuropathy, autosomal dominant 3 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA056258	rs_754536393	4 SubmittersRCV000244386 RCV000707015 RCV002494784 RCV001183765
NM_000117.3(EMD):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:154379487	Pathogenic	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603810	rs_886044771	3 SubmittersRCV000518435 RCV001068392
NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val)	SNV Germline	Chr14:64017701	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7220363	rs_200143024	2 SubmittersRCV000340242 RCV000812641
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)	SNV Germline	Chr14:64070707	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7221534	rs_201000414	6 SubmittersRCV000317677 RCV000535384 RCV003947826
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val)	SNV Germline	Chr14:64027764	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7220742	rs_375543783	3 SubmittersRCV000361625 RCV000534225
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)	SNV Germline	Chr6:152219052	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053999	rs_151247098	7 SubmittersRCV000332066 RCV000724834 RCV001079056 RCV001331541
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)	SNV Germline	Chr6:152236215	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4054456	rs_115534729	7 SubmittersRCV000309842 RCV000657157 RCV001085639 RCV002519087
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)	SNV Germline	Chr6:152428297	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10603835	rs_886042121	2 SubmittersRCV000298522 RCV000550380
NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=)	SNV Germline	Chr14:64098029	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222039	rs_372251838	2 SubmittersRCV000263331 RCV001443938
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)	SNV Germline	Chr6:152149564	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053150	rs_201799566	6 SubmittersRCV000298749 RCV000320790 RCV000356754 RCV000724848 RCV001087729
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)	SNV Germline	Chr14:64132410	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222794	rs_200997641	4 SubmittersRCV000387545 RCV000694388
NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=)	SNV Germline	Chr14:64188660	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223826	rs_766073729	2 SubmittersRCV000350716 RCV002518821
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)	SNV Germline	Chr14:64220540	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7224647	rs_149978500	8 SubmittersRCV000710262 RCV001082623 RCV003939941
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)	SNV Germline	Chr6:152373055	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4057316	rs_35379711	8 SubmittersRCV000265517 RCV000349081 RCV000357821 RCV000551175 RCV001086377
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)	SNV Germline	Chr6:152441248	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058660	rs_144566713	6 SubmittersRCV000268310 RCV000336103 RCV000320984 RCV000647679 RCV001086374
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)	SNV Germline	Chr6:152399697	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4057902	rs_147947903	6 SubmittersRCV000296396 RCV000407110 RCV000401012 RCV000647695 RCV001082880
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)	SNV Germline	Chr6:152399777	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4057918	rs_142747430	8 SubmittersRCV000557308 RCV000713686 RCV002519100
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)	SNV Germline	Chr14:64134082	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7222812	rs_141488398	7 SubmittersRCV000344544 RCV000559161 RCV000859415 RCV003967704
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)	SNV Germline	Chr6:152136653	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052785	rs_764235096	4 SubmittersRCV000291852 RCV001151233 RCV001151232 RCV002521871
NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=)	SNV Germline	Chr14:64113469	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222245	rs_143927906	2 SubmittersRCV000284836 RCV001427827
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)	SNV Germline	Chr6:152427723	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058384	rs_146789107	8 SubmittersRCV000276411 RCV000371036 RCV000659066 RCV001087521
NM_000117.3(EMD):c.449+10G>C	SNV Germline	ChrX:154380812	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Conflicting Classifications	CA10561610	rs_782467790	2 SubmittersRCV000272940 RCV001424183
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys)	SNV Germline	Chr14:64002068	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7220054	rs_370541277	4 SubmittersRCV000265432 RCV001078836 RCV004021097
NM_182914.3(SYNE2):c.18603G>A (p.Arg6201=)	SNV Germline	Chr14:64210004	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7224146	rs_141051652	2 SubmittersRCV000326066 RCV001085338
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg)	SNV Germline	Chr14:64159436	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7223251	rs_150677837	4 SubmittersRCV000387733 RCV000533714 RCV000725022
NM_182914.3(SYNE2):c.14844-8C>G	SNV Germline	Chr14:64139933	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222905	rs_375500620	3 SubmittersRCV000295755 RCV000725023 RCV001436262
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu)	SNV Germline	Chr14:64056125	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221378	rs_8010699	3 SubmittersRCV000393944 RCV000532586
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)	SNV Germline	Chr6:152353298	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4056751	rs_144797744	7 SubmittersRCV000286476 RCV000341441 RCV000713581 RCV000701706 RCV001535685
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)	SNV Germline	Chr6:152218380	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053964	rs_35686213	7 SubmittersRCV000293341 RCV000294188 RCV000351537 RCV000713633 RCV001084197
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)	SNV Germline	Chr6:152214949	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4053914	rs_371642308	7 SubmittersRCV000303479 RCV000360607 RCV000725044 RCV001055549 RCV004021101
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)	SNV Germline	ChrX:154381094	Conflicting classifications of pathogenicity	not specified Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561657	rs_782057378	5 SubmittersRCV000331953 RCV000725045 RCV001446491 RCV001833317 RCV002365299
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)	SNV Germline	Chr6:152278182	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054970	rs_142251671	4 SubmittersRCV000375864 RCV001078518 RCV001660543 RCV004535274
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)	SNV Germline	Chr14:64113404	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7222235	rs_149296737	8 SubmittersRCV000380064 RCV001086857 RCV004021102 RCV003909927
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)	SNV Germline	Chr6:152330917	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4056126	rs_199761238	10 SubmittersRCV000647673 RCV000725051 RCV001152801 RCV001152802 RCV002518844
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)	SNV Germline	Chr6:152367256	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057153	rs_147281213	5 SubmittersRCV000382121 RCV000529012 RCV001155444 RCV001155443
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)	SNV Germline	Chr14:63993853	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219765	rs_370800852	3 SubmittersRCV000333138 RCV001087676
NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=)	SNV Germline	Chr14:63997045	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219852	rs_765896679	2 SubmittersRCV000293458 RCV001455862
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)	SNV Germline	Chr6:152224576	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054161	rs_140962690	6 SubmittersRCV000309798 RCV000326032 RCV000395237 RCV001203032 RCV004543000
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)	SNV Germline	Chr6:152387199	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057566	rs_142676206	5 SubmittersRCV000360507 RCV000725061 RCV000530905 RCV004543001
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)	SNV Germline	Chr6:152330464	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056044	rs_150062167	5 SubmittersRCV000326789 RCV000875093 RCV001288818 RCV004543002
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)	SNV Germline	Chr6:152427744	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058389	rs_755866233	7 SubmittersRCV000725066 RCV001153467 RCV001153468 RCV002518848
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)	SNV Germline	Chr6:152334229	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056356	rs_143851739	4 SubmittersRCV000334591 RCV000725067 RCV001152912 RCV001152911 RCV002518849
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)	SNV Germline	Chr6:152133421	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4052723	rs_139834542	12 SubmittersRCV000304397 RCV000363295 RCV000364185 RCV000713653 RCV001080413 RCV004535281
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)	SNV Germline	Chr6:152224530	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054148	rs_139078338	7 SubmittersRCV000400431 RCV000647689 RCV001153132 RCV001153131 RCV001087281 RCV004535282
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)	SNV Germline	Chr6:152148140	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053051	rs_138407813	5 SubmittersRCV000725092 RCV001088187
NM_182914.3(SYNE2):c.12108+10T>C	SNV Germline	Chr14:64093490	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221992	rs_184130759	2 SubmittersRCV000328519 RCV001519611
NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=)	SNV Germline	Chr14:64141947	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223009	rs_145021738	2 SubmittersRCV000282620 RCV001058644
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=)	SNV Germline	Chr6:152352195	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056698	rs_777170937	2 SubmittersRCV000277161 RCV002519112
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)	SNV Germline	Chr6:152450749	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058879	rs_147841761	5 SubmittersRCV000279883 RCV000300725 RCV000372023 RCV000547327
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)	SNV Germline	Chr14:64119489	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222282	rs_148708516	3 SubmittersRCV000299153 RCV001078966
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=)	SNV Germline	Chr14:64129850	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222676	rs_200893674	3 SubmittersRCV000330988 RCV001111006
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)	SNV Germline	Chr14:64000587	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7219988	rs_200437377	7 SubmittersRCV000364942 RCV000537935 RCV000725104 RCV003909933
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)	SNV Germline	Chr14:64002763	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7220079	rs_367549881	6 SubmittersRCV000262038 RCV000765178 RCV004021110
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)	SNV Germline	Chr14:64216346	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7224463	rs_200937358	4 SubmittersRCV000282881 RCV001078759 RCV003947851
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)	SNV Germline	Chr6:152330776	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056103	rs_142388112	6 SubmittersRCV000260305 RCV000263822 RCV000357277 RCV000836067 RCV000546895
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=)	SNV Germline	Chr14:64053165	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221239	rs_200061977	3 SubmittersRCV000370880 RCV001083875
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)	SNV Germline	Chr6:152472373	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4059409	rs_141397112	4 SubmittersRCV000269267 RCV000799302 RCV004543008
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)	SNV Germline	Chr6:152239673	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054541	rs_143118084	6 SubmittersRCV000404318 RCV000725116 RCV001089199
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)	SNV Germline	Chr14:64221675	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7224740	rs_140897155	5 SubmittersRCV000514270 RCV001079226
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)	SNV Germline	Chr6:152122618	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052604	rs_144206837	4 SubmittersRCV000290592 RCV000331373 RCV000314603 RCV000981644 RCV001034647
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)	SNV Germline	Chr6:152189294	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4053652	rs_139590550	9 SubmittersRCV000287227 RCV000305616 RCV000395470 RCV000710250 RCV001084381 RCV004535286
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)	SNV Germline	Chr6:152387329	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4057588	rs_145195048	6 SubmittersRCV000288135 RCV000389798 RCV000408042 RCV000525996 RCV001085653 RCV004021113
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=)	SNV Germline	Chr6:152409649	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058117	rs_767090248	2 SubmittersRCV000360118 RCV002059113
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)	SNV Germline	Chr6:152369064	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057232	rs_149901087	9 SubmittersRCV000312113 RCV000370965 RCV000391866 RCV000766628 RCV001085001 RCV004543011
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)	SNV Germline	Chr6:152255015	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054697	rs_749079132	2 SubmittersRCV000380297 RCV001504214
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)	SNV Germline	Chr14:64214460	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7224375	rs_186839881	4 SubmittersRCV000381179 RCV001088531 RCV003955446
NM_182914.3(SYNE2):c.169C>T (p.Leu57=)	SNV Germline	Chr14:63941722	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219036	rs_370692798	2 SubmittersRCV000309366 RCV002521890
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)	SNV Germline	Chr14:64126740	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222586	rs_148582250	4 SubmittersRCV000303987 RCV000535359
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)	SNV Germline	Chr6:152318957	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055551	rs_200812806	8 SubmittersRCV000309098 RCV000363758 RCV000725167 RCV000765874
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)	SNV Germline	Chr14:64165396	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7223415	rs_145036293	4 SubmittersRCV000340762 RCV001087227 RCV003920055
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)	SNV Germline	Chr14:64152613	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7223165	rs_146573874	4 SubmittersRCV000268682 RCV001087621 RCV003947856
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)	SNV Germline	Chr6:152211529	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053848	rs_148240825	7 SubmittersRCV000291534 RCV000324319 RCV000403785 RCV000725172 RCV001084035
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)	SNV Germline	Chr14:64158680	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223206	rs_138797058	4 SubmittersRCV000292744 RCV001088812
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)	SNV Germline	Chr6:152148304	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4053093	rs_201548223	6 SubmittersRCV000311509 RCV000394511 RCV000398198 RCV000647663 RCV000725192
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)	SNV Germline	Chr6:152425389	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058338	rs_147508177	7 SubmittersRCV000279711 RCV000334360 RCV000713676 RCV001078720 RCV004543018
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)	SNV Germline	Chr6:152219009	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053994	rs_201392317	4 SubmittersRCV000360933 RCV001082965 RCV001153021 RCV001153020
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)	SNV Germline	Chr6:152409601	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058108	rs_141671123	9 SubmittersRCV000336864 RCV000391737 RCV000378091 RCV000713680 RCV001085862
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)	SNV Germline	Chr6:152301927	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055224	rs_150376715	8 SubmittersRCV000405613 RCV000528735 RCV001200484 RCV003147439
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)	SNV Germline	Chr6:152399808	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057926	rs_370016934	6 SubmittersRCV000713685 RCV001151976 RCV001213813 RCV001151975
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)	SNV Germline	Chr14:64003111	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7220147	rs_117647282	10 SubmittersRCV000346227 RCV000819795 RCV000725229 RCV003977753
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)	SNV Germline	Chr14:64177466	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 5, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7223733	rs_201427580	4 SubmittersRCV000302447 RCV000384434
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)	SNV Germline	Chr14:64081575	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221782	rs_138514054	6 SubmittersRCV000298630 RCV000725237 RCV001079658
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)	SNV Germline	Chr6:152442149	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058711	rs_200276242	5 SubmittersRCV000306134 RCV000541201 RCV001152385 RCV001152386 RCV004535295
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)	SNV Germline	Chr14:64051918	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7221049	rs_374946613	5 SubmittersRCV000278739 RCV000700108 RCV004021127
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=)	SNV Germline	Chr6:152206285	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053763	rs_140577642	2 SubmittersRCV000311602 RCV001080280
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)	SNV Germline	Chr14:64065611	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221492	rs_373646325	4 SubmittersRCV000314737 RCV001088008
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=)	SNV Germline	Chr14:63986494	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219633	rs_374751877	3 SubmittersRCV000361875 RCV001082447
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=)	SNV Germline	Chr6:152354749	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10604462	rs_147021971	2 SubmittersRCV000273630 RCV003765601
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg)	SNV Germline	Chr14:64027678	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7220729	rs_551801857	4 SubmittersRCV000300520 RCV000647604 RCV004021136
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)	SNV Germline	Chr6:152409087	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058056	rs_141858284	7 SubmittersRCV000291232 RCV000294567 RCV000349602 RCV000533261 RCV001088500 RCV004543024
NM_182961.4(SYNE1):c.18574-8A>C	SNV Germline	Chr6:152269294	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054920	rs_749921940	2 SubmittersRCV000343816 RCV002059128
NM_182961.4(SYNE1):c.20200-3T>C	SNV Germline	Chr6:152236306	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054462	rs_770710698	4 SubmittersRCV000304184 RCV001002349 RCV001233590
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)	SNV Germline	Chr6:152225750	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054193	rs_777227521	6 SubmittersRCV000363961 RCV000366762 RCV000401188 RCV000725275 RCV001859578
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)	SNV Germline	Chr6:152206274	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4053754	rs_142117628	7 SubmittersRCV000316401 RCV000354826 RCV000528543 RCV000713637
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)	SNV Germline	Chr14:64053228	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7221251	rs_201466326	4 SubmittersRCV000326039 RCV001079812 RCV004021140
NM_182914.3(SYNE2):c.11023-5C>G	SNV Germline	Chr14:64078461	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221684	rs_112833938	2 SubmittersRCV000382859 RCV001082803
NM_182961.4(SYNE1):c.24642+3A>G	SNV Germline	Chr6:152149474	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4053124	rs_117346210	4 SubmittersRCV000315232 RCV001519397 RCV004543029 RCV003137885
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)	SNV Germline	Chr6:152430177	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058480	rs_200424447	7 SubmittersRCV000725306 RCV001088719 RCV003323490 RCV004535303
NM_182914.3(SYNE2):c.18264C>T (p.Asp6088=)	SNV Germline	Chr14:64208820	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7224025	rs_182985921	3 SubmittersRCV000293554 RCV001113291
NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=)	SNV Germline	Chr14:64158642	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223202	rs_182449286	2 SubmittersRCV000397495 RCV003765610
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)	SNV Germline	Chr6:152381042	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057432	rs_146424389	8 SubmittersRCV000297941 RCV000347478 RCV000405155 RCV000725308 RCV001079232 RCV004543030
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)	SNV Germline	Chr6:152396873	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057817	rs_139070088	6 SubmittersRCV000319520 RCV000355331 RCV000713688 RCV001086684
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)	SNV Germline	Chr6:152433879	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058578	rs_146567226	6 SubmittersRCV000332609 RCV001153573 RCV001156189 RCV002059135
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)	SNV Germline	Chr6:152321292	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055592	rs_146705789	5 SubmittersRCV000320908 RCV000357160 RCV000355300 RCV000725309 RCV001078549 RCV004535304
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)	SNV Germline	Chr6:152353389	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056767	rs_149260051	10 SubmittersRCV000313045 RCV000349284 RCV000725313 RCV001085761 RCV004543031
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)	SNV Germline	Chr6:152352252	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056707	rs_151081036	5 SubmittersRCV000290015 RCV000384304 RCV000725314 RCV001084420
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)	SNV Germline	Chr14:64223201	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7224783	rs_138789938	5 SubmittersRCV000318970 RCV000397520 RCV004021141
NM_182914.3(SYNE2):c.9745-9A>G	SNV Germline	Chr14:64055935	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7221345	rs_778028287	4 SubmittersRCV000713722 RCV001079585
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)	SNV Germline	Chr6:152407089	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy Cerebellar ataxia Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058022	rs_185829704	4 SubmittersRCV000269905 RCV000384028 RCV000710259 RCV001512737
NM_182961.4(SYNE1):c.24861C>T (p.His8287=)	SNV Germline	Chr6:152148160	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053057	rs_202207154	2 SubmittersRCV000320016 RCV001481365
NM_182914.3(SYNE2):c.907A>G (p.Met303Val)	SNV Germline	Chr14:63963917	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219272	rs_377535370	3 SubmittersRCV000391945 RCV001112208
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)	SNV Germline	Chr14:64002818	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2-related disorder	Criteria Provided Conflicting Classifications	CA7220096	rs_570341792	4 SubmittersRCV000308336 RCV001109639 RCV003920069
NM_182914.3(SYNE2):c.14139+5G>A	SNV Germline	Chr14:64129906	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222683	rs_374778697	4 SubmittersRCV000305817 RCV000698569
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)	SNV Germline	Chr14:63976588	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7219360	rs_201176149	5 SubmittersRCV000329476 RCV001089176 RCV004021146
NM_182961.4(SYNE1):c.3480C>T (p.His1160=)	SNV Germline	Chr6:152449557	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058836	rs_757238055	2 SubmittersRCV000332677 RCV002059145
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)	SNV Germline	Chr6:152269181	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054891	rs_201873107	4 SubmittersRCV000290700 RCV001152188 RCV001345456 RCV001152187
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)	SNV Germline	Chr6:152148065	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053040	rs_148008634	5 SubmittersRCV000319118 RCV000373820 RCV000725395 RCV001079883
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)	SNV Germline	Chr6:152373169	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10604733	rs_376622495	3 SubmittersRCV000396322 RCV000725411 RCV002059150
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)	SNV Germline	Chr6:152219095	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054011	rs_145494541	6 SubmittersRCV000300395 RCV000340078 RCV000725416 RCV000822036
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=)	SNV Germline	Chr14:64208871	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7224035	rs_202084149	3 SubmittersRCV000353036 RCV001113292
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=)	SNV Germline	Chr6:152330498	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10604797	rs_886042872	2 SubmittersRCV000315229 RCV003765620
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)	SNV Germline	Chr6:152326414	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055864	rs_763930147	4 SubmittersRCV000336814 RCV000357153 RCV000402880 RCV001080284
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)	SNV Germline	Chr6:152310431	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases Intellectual disability Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055383	rs_145899734	15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV001252119 RCV001331537 RCV001362101 RCV004535321
NM_182914.3(SYNE2):c.15021C>T (p.Ala5007=)	SNV Germline	Chr14:64141385	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7222960	rs_148113884	2 SubmittersRCV000334702 RCV001521600
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)	SNV Germline	Chr6:152221470	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy Cerebellar ataxia Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054101	rs_141170182	5 SubmittersRCV000280474 RCV000333711 RCV000372259 RCV001435374
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)	SNV Germline	Chr6:152369518	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057278	rs_749550071	7 SubmittersRCV000306494 RCV000363390 RCV000404807 RCV000535055
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)	SNV Germline	Chr6:152463385	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059244	rs_139480065	5 SubmittersRCV000300704 RCV000353418 RCV000393850 RCV000725493 RCV001078762
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)	SNV Germline	Chr6:152488405	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4059537	rs_144105769	7 SubmittersRCV000284940 RCV000340947 RCV000339824 RCV000710233 RCV001079942 RCV004543052
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)	SNV Germline	Chr6:152331755	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056285	rs_760209358	5 SubmittersRCV000335624 RCV002518946
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)	SNV Germline	Chr6:152283992	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055038	rs_200209279	4 SubmittersRCV000725524 RCV001071366 RCV001157766 RCV001157765
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=)	SNV Germline	Chr6:152149570	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10604902	rs_755622688	2 SubmittersRCV000341778 RCV001086281
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)	SNV Germline	Chr6:152385701	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057503	rs_759736838	3 SubmittersRCV000300708 RCV003765623
NM_182961.4(SYNE1):c.2893-6T>C	SNV Germline	Chr6:152453726	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10604904	rs_886042945	2 SubmittersRCV000370318 RCV002521926
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)	SNV Germline	Chr6:152152121	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4053247	rs_140259310	3 SubmittersRCV000401314 RCV001088905 RCV001288480
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)	SNV Germline	Chr6:152208179	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4053829	rs_111367233	4 SubmittersRCV000305869 RCV001079063 RCV001288476
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)	SNV Germline	Chr6:152213648	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4053882	rs_139466191	4 SubmittersRCV000320855 RCV001084730 RCV002521929
NM_000117.3(EMD):c.525C>T (p.Ser175=)	SNV Germline	ChrX:154380957	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561628	rs_782367505	6 SubmittersRCV000725575 RCV001082980 RCV001795484 RCV002338845
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)	SNV Germline	Chr6:152352177	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056692	rs_137919524	7 SubmittersRCV000333515 RCV000369411 RCV000710235 RCV001088229 RCV004535340
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)	SNV Germline	Chr6:152455983	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059076	rs_369192821	5 SubmittersRCV000270132 RCV001156382 RCV001156381 RCV001859612
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)	SNV Germline	Chr14:64126682	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7222577	rs_144702281	4 SubmittersRCV000351686 RCV001449201 RCV004021172
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)	SNV Germline	Chr6:152401221	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057960	rs_116721144	6 SubmittersRCV000383754 RCV000647677 RCV001697649 RCV002521930 RCV004535342
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)	SNV Germline	Chr6:152136702	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052796	rs_776288515	3 SubmittersRCV000371189 RCV001151235 RCV001151234 RCV001483710
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=)	SNV Germline	Chr6:152442108	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058692	rs_372832470	2 SubmittersRCV000406350 RCV001088418
NM_000117.3(EMD):c.149C>A (p.Pro50His)	SNV Germline	ChrX:154379756	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561516	rs_782021157	6 SubmittersRCV000270229 RCV001370198 RCV001828211 RCV004021174
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)	SNV Germline	Chr6:152318115	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055498	rs_138745849	6 SubmittersRCV000278107 RCV000279360 RCV000352181 RCV000543262 RCV002519174 RCV001705421 RCV004543060
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)	SNV Germline	Chr6:152362212	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057020	rs_147631683	4 SubmittersRCV000314573 RCV001394398 RCV004535345
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)	SNV Germline	Chr6:152301881	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055213	rs_775771199	2 SubmittersRCV000308599 RCV002059170
NM_182961.4(SYNE1):c.7713-4T>A	SNV Germline	Chr6:152391572	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057697	rs_571742202	2 SubmittersRCV000260962 RCV002059172
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)	SNV Germline	Chr6:152337014	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056406	rs_148935596	4 SubmittersRCV000282438 RCV000295771 RCV000372382 RCV000725624 RCV001859614
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)	SNV Germline	Chr6:152330836	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056112	rs_147667464	7 SubmittersRCV000713598 RCV000811161 RCV001158275 RCV001158276
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)	SNV Germline	Chr6:152256712	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054785	rs_370053768	8 SubmittersRCV000275164 RCV000725630 RCV000647678 RCV004535346
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)	SNV Germline	Chr6:152331386	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056202	rs_763090658	3 SubmittersRCV000725638 RCV002059174
NM_182961.4(SYNE1):c.16390-6A>G	SNV Germline	Chr6:152318269	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10605087	rs_886043083	2 SubmittersRCV000381717 RCV001047211
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)	SNV Germline	Chr6:152293626	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055084	rs_200701182	6 SubmittersRCV000702605 RCV000713612 RCV001152288 RCV001152287
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)	SNV Germline	Chr6:152442204	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058729	rs_754584363	6 SubmittersRCV000282129 RCV000334724 RCV000389661 RCV000725644 RCV001437162 RCV004535348
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)	SNV Germline	Chr6:152140066	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spastic ataxia Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4052865	rs_139679692	6 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)	SNV Germline	Chr6:152367257	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057154	rs_759403157	3 SubmittersRCV000279050 RCV001400656
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	SNV Germline	Chr1:156115001	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA10605120	rs_886043109	4 SubmittersRCV000380269 RCV000809047 RCV004577329
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)	SNV Germline	Chr6:152255596	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054725	rs_150700669	6 SubmittersRCV000346302 RCV000706119 RCV000725671 RCV001153337 RCV001153336
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)	SNV Germline	Chr6:152330305	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056015	rs_138307449	4 SubmittersRCV000322036 RCV000374415 RCV000394418 RCV001088647
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)	SNV Germline	Chr6:152318956	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055550	rs_144376043	5 SubmittersRCV000308956 RCV000348783 RCV000404876 RCV000725705 RCV001086770
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)	SNV Germline	Chr6:152398685	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10605188	rs_886043162	2 SubmittersRCV000377459 RCV001089124
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)	SNV Germline	Chr6:152520523	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4059818	rs_143900928	7 SubmittersRCV000263124 RCV000318396 RCV000725713 RCV000647662 RCV002521940
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)	SNV Germline	Chr6:152376805	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057402	rs_77221231	4 SubmittersRCV000298281 RCV000308940 RCV000391002 RCV000993204 RCV001859627
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)	SNV Germline	Chr6:152330667	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided not specified Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056088	rs_144963785	9 SubmittersRCV000363277 RCV000397441 RCV000556754 RCV000713600 RCV001814977 RCV002518970 RCV004543067
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)	SNV Germline	Chr6:152249199	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054655	rs_149272010	7 SubmittersRCV000283633 RCV000320028 RCV000335180 RCV000551091 RCV003430819 RCV004535354
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)	SNV Germline	Chr6:152404314	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058000	rs_371609288	3 SubmittersRCV000373434 RCV001157541 RCV001157542 RCV001855156
NM_182961.4(SYNE1):c.24977-5C>T	SNV Germline	Chr6:152143770	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052985	rs_767722883	3 SubmittersRCV000390645 RCV001151362 RCV001151363 RCV002059181
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)	SNV Germline	ChrX:154380980	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605214	rs_104894805	3 SubmittersRCV000303060 RCV002519189
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)	SNV Germline	Chr6:152409124	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058061	rs_144435836	4 SubmittersRCV000312982 RCV001081234 RCV004543068
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)	SNV Germline	Chr6:152409686	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058121	rs_577979265	4 SubmittersRCV000297663 RCV000343170 RCV000379763 RCV001046599
NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=)	SNV Germline	Chr14:64000613	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7219991	rs_749552415	2 SubmittersRCV000368689 RCV002059185
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)	SNV Germline	Chr6:152143757	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052981	rs_142690727	4 SubmittersRCV000284262 RCV001089385
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)	SNV Germline	Chr6:152330885	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056118	rs_184264920	3 SubmittersRCV000278571 RCV001087111 RCV001158278 RCV001158277
NM_182961.4(SYNE1):c.17542-7G>A	SNV Germline	Chr6:152300788	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Intellectual disability	Criteria Provided Conflicting Classifications	CA4055194	rs_199762799	9 SubmittersRCV000288486 RCV000381882 RCV000405487 RCV000725731 RCV001085414 RCV001252120
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)	SNV Germline	Chr6:152329958	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055956	rs_767294195	3 SubmittersRCV000386158 RCV001078784
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)	SNV Germline	Chr6:152359362	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4056968	rs_150637898	7 SubmittersRCV000306417 RCV000347469 RCV000710234 RCV001242547 RCV004021186
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)	SNV Germline	Chr6:152354824	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056885	rs_201715967	3 SubmittersRCV000321515 RCV000725764 RCV001084782
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)	SNV Germline	Chr6:152401198	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4057956	rs_140986546	4 SubmittersRCV000275232 RCV000311599 RCV000356963 RCV000647690 RCV003422197
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)	SNV Germline	Chr14:64017617	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7220349	rs_143578863	6 SubmittersRCV000361245 RCV001081871
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)	SNV Germline	Chr6:152444513	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058761	rs_758375991	4 SubmittersRCV000319694 RCV001488379
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)	SNV Germline	Chr14:64167370	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 5, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7223475	rs_138769395	4 SubmittersRCV000374644 RCV000402578 RCV001080395 RCV001288055
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)	SNV Germline	Chr6:152234788	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054431	rs_375649094	2 SubmittersRCV000390186 RCV001855168
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)	SNV Germline	Chr6:152484895	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type SYNE1-related disorder Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059514	rs_569973824	5 SubmittersRCV000265896 RCV001153964 RCV001152691 RCV004535363 RCV002519214
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)	SNV Germline	Chr6:152425523	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058353	rs_140005424	5 SubmittersRCV000309940 RCV000346116 RCV000337318 RCV000811570
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)	SNV Germline	Chr6:152236214	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054455	rs_142327194	5 SubmittersRCV000315372 RCV000398331 RCV000394502 RCV000725819 RCV002521949
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)	SNV Germline	Chr6:152427801	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058399	rs_187410988	4 SubmittersRCV000312860 RCV000367410 RCV000387537 RCV001085330 RCV004543077
NM_000117.3(EMD):c.549T>C (p.Pro183=)	SNV Germline	ChrX:154380981	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605421	rs_886044848	2 SubmittersRCV000305985 RCV001476279
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)	SNV Germline	Chr6:152458898	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4059137	rs_749509412	4 SubmittersRCV000369461 RCV002059196 RCV004543079
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	SNV Germline	ChrX:154381042	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 1, X-linked	Criteria Provided Conflicting Classifications	CA10561646	rs_782299893	4 SubmittersRCV000725843 RCV001088437 RCV003492028
NM_182961.4(SYNE1):c.310-459A>G	SNV Germline	Chr6:152511562	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059781	rs_371580053	2 SubmittersRCV000354917 RCV002055067
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)	SNV Germline	Chr6:152236874	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054489	rs_201908045	6 SubmittersRCV000269974 RCV000725848 RCV001088372 RCV001155833 RCV001155834 RCV004543083
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)	SNV Germline	Chr6:152331887	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056303	rs_373438870	4 SubmittersRCV000349928 RCV001498820 RCV004535366
NM_182961.4(SYNE1):c.2893-5G>A	SNV Germline	Chr6:152453725	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058986	rs_370196519	5 SubmittersRCV000713657 RCV001153763 RCV001153762 RCV001434030
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)	SNV Germline	Chr6:152249179	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054652	rs_780644969	3 SubmittersRCV000307608 RCV001433724
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)	SNV Germline	Chr6:152362320	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057040	rs_369227827	5 SubmittersRCV000331233 RCV000387996 RCV000725862 RCV002059201 RCV004535367
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=)	SNV Germline	Chr6:152447470	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058789	rs_756713928	2 SubmittersRCV000370640 RCV002059202
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)	SNV Germline	Chr6:152385769	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057515	rs_77853132	5 SubmittersRCV000267519 RCV000297062 RCV000386651 RCV002059206
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=)	SNV Germline	Chr14:64142016	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223025	rs_139340468	2 SubmittersRCV000338999 RCV000394002
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)	SNV Germline	Chr6:152300683	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055173	rs_144418713	8 SubmittersRCV000291821 RCV001085871 RCV001156185 RCV001156186 RCV004535371
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=)	SNV Germline	Chr6:152471612	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10605581	rs_886043491	2 SubmittersRCV000377848 RCV003765645
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)	SNV Germline	Chr6:152391285	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057657	rs_577888458	5 SubmittersRCV000263756 RCV000312184 RCV000368964 RCV001859654
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)	SNV Germline	Chr6:152339337	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4056455	rs_145401144	4 SubmittersRCV000365053 RCV001082681 RCV001660550
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)	SNV Germline	Chr6:152396896	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4057819	rs_188146577	9 SubmittersRCV000713687 RCV001157443 RCV001157444 RCV001824722 RCV002519270 RCV004021213
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=)	SNV Germline	Chr6:152256652	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054779	rs_749565347	2 SubmittersRCV000312853 RCV002519286
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)	SNV Germline	Chr6:152230593	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4054245	rs_143639400	9 SubmittersRCV000263123 RCV000355493 RCV000647627 RCV000713627 RCV003987493 RCV004021230
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser)	SNV Germline	Chr14:64218491	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7224525	rs_199577239	3 SubmittersRCV000263614 RCV000343094
NM_182961.4(SYNE1):c.1497C>T (p.His499=)	SNV Germline	Chr6:152471732	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA10605922	rs_758555741	3 SubmittersRCV000297064 RCV002059230
NM_182961.4(SYNE1):c.11253+9G>A	SNV Germline	Chr6:152353254	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder not specified	Criteria Provided Conflicting Classifications	CA4056742	rs_368012172	5 SubmittersRCV000713582 RCV001154404 RCV001154405 RCV001491377 RCV004535405 RCV001706420
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)	SNV Germline	Chr6:152353428	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056773	rs_375949615	3 SubmittersRCV000408290 RCV001217207
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)	SNV Germline	Chr6:152330233	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4056002	rs_142422990	7 SubmittersRCV000264553 RCV000312820 RCV000360305 RCV001087844 RCV002254920
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)	SNV Germline	Chr6:152350757	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4056643	rs_202173395	7 SubmittersRCV000713586 RCV001225762 RCV002518033
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)	SNV Germline	Chr6:152354785	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056871	rs_114858512	3 SubmittersRCV000332328 RCV001082072
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)	SNV Germline	Chr6:152430168	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4058479	rs_199769508	8 SubmittersRCV000397637 RCV000778782 RCV000792483 RCV001157767 RCV003488502
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)	SNV Germline	Chr6:152208013	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4053801	rs_146320179	7 SubmittersRCV000322949 RCV000379988 RCV000823678 RCV000726157 RCV004535411
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)	SNV Germline	Chr6:152334217	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056352	rs_149536991	5 SubmittersRCV000387683 RCV001088928
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)	SNV Germline	Chr6:152376444	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057360	rs_199554198	3 SubmittersRCV000278702 RCV000298284 RCV000317415 RCV001089078
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)	SNV Germline	Chr6:152236947	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054497	rs_143674856	5 SubmittersRCV000353115 RCV002518045
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)	SNV Germline	Chr6:152242403	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4054580	rs_150387338	8 SubmittersRCV000538332 RCV000713622 RCV001157537 RCV001157538 RCV001706422
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)	SNV Germline	Chr6:152385752	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057511	rs_139079964	2 SubmittersRCV000328809 RCV002518046
NM_182961.4(SYNE1):c.25120-6A>G	SNV Germline	Chr6:152141335	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052923	rs_201898019	6 SubmittersRCV000340886 RCV000396515 RCV000726193 RCV001087169
NM_182961.4(SYNE1):c.15657+5T>A	SNV Germline	Chr6:152325079	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055730	rs_199779021	7 SubmittersRCV000344854 RCV000405072 RCV000726194 RCV001088655
NM_182961.4(SYNE1):c.12225+4G>A	SNV Germline	Chr6:152344077	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056473	rs_770448083	4 SubmittersRCV000293168 RCV000352851 RCV000366649 RCV002518048
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)	SNV Germline	Chr6:152136762	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4052804	rs_144459490	2 SubmittersRCV000298557 RCV001472774
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)	SNV Germline	Chr6:152234780	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054430	rs_753654674	5 SubmittersRCV000332553 RCV000726204 RCV001153234 RCV001153235
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)	SNV Germline	Chr6:152318974	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055556	rs_779112403	3 SubmittersRCV000370330 RCV000726211 RCV001458659
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)	SNV Germline	Chr6:152396898	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057820	rs_149030452	6 SubmittersRCV000263062 RCV000871135 RCV001705430 RCV004543119
NM_182961.4(SYNE1):c.180T>G (p.Gly60=)	SNV Germline	Chr6:152526125	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10606208	rs_761395846	3 SubmittersRCV000329289 RCV002521998
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)	SNV Germline	Chr6:152352066	Conflicting classifications of pathogenicity	not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4056671	rs_74463786	6 SubmittersRCV000311276 RCV000557316 RCV001156801 RCV001156802 RCV001697651 RCV002518058
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)	SNV Germline	Chr6:152189293	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4053651	rs_150550013	9 SubmittersRCV000322222 RCV000541902 RCV001157123 RCV001157122 RCV004529476 RCV002518059
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=)	SNV Germline	Chr6:152211526	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053846	rs_779555194	2 SubmittersRCV000271731 RCV003765661
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)	SNV Germline	Chr6:152269198	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054896	rs_150335599	5 SubmittersRCV000270647 RCV000317960 RCV000373083 RCV000726255 RCV001435359
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=)	SNV Germline	Chr6:152336976	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056401	rs_375707429	2 SubmittersRCV000395402 RCV001088653
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=)	SNV Germline	Chr6:152458885	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4059136	rs_368201364	2 SubmittersRCV000312659 RCV002518069
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=)	SNV Germline	Chr6:152461705	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4059170	rs_375103550	2 SubmittersRCV000277380 RCV002518070
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)	SNV Germline	Chr6:152284095	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055055	rs_146238726	4 SubmittersRCV000304489 RCV000372511 RCV000405176 RCV001464844
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)	SNV Germline	Chr6:152262134	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054826	rs_138173087	5 SubmittersRCV000316766 RCV000726341 RCV001084034 RCV001157651 RCV001157650
NM_182961.4(SYNE1):c.23791-7C>T	SNV Germline	Chr6:152156104	Conflicting classifications of pathogenicity	not specified Condition: not provided Intellectual disability Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053349	rs_375558499	4 SubmittersRCV000276740 RCV000726342 RCV001252116 RCV001439883
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=)	SNV Germline	Chr6:152254985	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10606486	rs_886044212	2 SubmittersRCV000364901 RCV002059267
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)	SNV Germline	Chr6:152206209	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053741	rs_202017153	6 SubmittersRCV000391043 RCV001151676 RCV001265812 RCV001318993 RCV001151675
NM_182961.4(SYNE1):c.9903C>T (p.His3301=)	SNV Germline	Chr6:152367287	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4057161	rs_767709050	2 SubmittersRCV000370603 RCV002059268
NM_182961.4(SYNE1):c.5421+9G>T	SNV Germline	Chr6:152419560	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058300	rs_376218204	5 SubmittersRCV000282736 RCV000319598 RCV000374221 RCV000726354 RCV001080873
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)	SNV Germline	Chr6:152428279	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA10606505	rs_886044228	2 SubmittersRCV000281266 RCV003765670
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)	SNV Germline	Chr6:152331463	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056222	rs_368709678	4 SubmittersRCV000268983 RCV000326604 RCV000406474 RCV001306713
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)	SNV Germline	Chr6:152148361	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053103	rs_150811468	5 SubmittersRCV000276082 RCV000352358 RCV000399091 RCV000726359 RCV001087222
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)	SNV Germline	Chr6:152354799	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056875	rs_143034104	6 SubmittersRCV000261699 RCV000266205 RCV000321203 RCV000647618 RCV004543132
NM_000117.3(EMD):c.460A>G (p.Met154Val)	SNV Germline	ChrX:154380892	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561621	rs_782806462	4 SubmittersRCV000347322 RCV002494887 RCV002338859
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)	SNV Germline	Chr14:64053343	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA10606537	rs_886044254	3 SubmittersRCV000382773 RCV001227453
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)	SNV Germline	Chr6:152369592	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057292	rs_149005052	6 SubmittersRCV000272056 RCV001087141 RCV004021289 RCV004537601
NM_182914.3(SYNE2):c.16894A>G (p.Lys5632Glu)	SNV Germline	Chr14:64167628	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Criteria Provided Conflicting Classifications	CA7223523	rs_375876618	2 SubmittersRCV000335441 RCV001424272
NM_182961.4(SYNE1):c.1730-7G>A	SNV Germline	Chr6:152465467	Conflicting classifications of pathogenicity	Condition: not provided not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4059309	rs_367603152	4 SubmittersRCV000385098 RCV001289273 RCV001517379
NM_182961.4(SYNE1):c.14955+8T>C	SNV Germline	Chr6:152329722	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055910	rs_563400584	2 SubmittersRCV000328246 RCV003765676
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=)	SNV Germline	Chr6:152329877	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA10606647	rs_886044346	2 SubmittersRCV000339016 RCV001460903
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)	SNV Germline	ChrX:154380898	Conflicting classifications of pathogenicity	X-linked Emery-Dreifuss muscular dystrophy not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10561623	rs_144594695	6 SubmittersRCV000695175 RCV000396796 RCV000726441 RCV003298348
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=)	SNV Germline	Chr6:152458838	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059125	rs_753367709	2 SubmittersRCV000404584 RCV001078724
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)	SNV Germline	Chr6:152369124	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4057251	rs_140927945	6 SubmittersRCV000713696 RCV001079193 RCV004537607
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)	SNV Germline	Chr6:152385758	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057512	rs_143105336	2 SubmittersRCV000389879 RCV001399817
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)	SNV Germline	Chr6:152358532	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056946	rs_759403120	2 SubmittersRCV000381782 RCV003765679
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=)	SNV Germline	Chr6:152225787	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054201	rs_768886911	2 SubmittersRCV000378180 RCV002519338
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	SNV Germline	ChrX:154380944	Pathogenic	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606711	rs_886044901	3 SubmittersRCV000498046 RCV002518125
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=)	SNV Germline	Chr6:152325252	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055768	rs_750155092	3 SubmittersRCV000286914 RCV000726456 RCV002519339
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)	SNV Germline	Chr6:152344207	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056507	rs_375862387	3 SubmittersRCV000305982 RCV000339248 RCV000397685 RCV002059286
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)	SNV Germline	Chr6:152145551	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053027	rs_377088951	6 SubmittersRCV000726473 RCV001154403 RCV001154402 RCV001430018
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=)	SNV Germline	Chr6:152149501	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053137	rs_373486168	2 SubmittersRCV000407105 RCV002059290
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)	SNV Germline	Chr6:152236857	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054484	rs_367790193	6 SubmittersRCV000361906 RCV000792010 RCV001155832 RCV001155831
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)	SNV Germline	Chr6:152455590	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4059036	rs_141214076	4 SubmittersRCV000287860 RCV001067771 RCV001660557
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)	SNV Germline	Chr6:152239628	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054535	rs_376891338	6 SubmittersRCV000276438 RCV001155835 RCV001155836 RCV001859719
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)	SNV Germline	Chr6:152268082	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy Condition: not provided Cerebellar ataxia Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054854	rs_150905950	5 SubmittersRCV000306585 RCV000322273 RCV000361320 RCV000647708
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)	SNV Germline	Chr6:152318100	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055495	rs_150604289	4 SubmittersRCV000263921 RCV000702090
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)	SNV Germline	Chr6:152219123	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054017	rs_371017408	6 SubmittersRCV000304956 RCV000321526 RCV000398095 RCV001084844 RCV001660558 RCV004543141
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)	SNV Germline	Chr6:152398661	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4057852	rs_144910464	3 SubmittersRCV000260485 RCV000315614 RCV000385810 RCV001438496
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=)	SNV Germline	Chr6:152249206	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054656	rs_377427003	2 SubmittersRCV000305819 RCV003765685
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)	SNV Germline	Chr6:152428357	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058442	rs_369587906	2 SubmittersRCV000330912 RCV001079036
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=)	SNV Germline	Chr6:152224551	Conflicting classifications of pathogenicity	Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054153	rs_781552217	2 SubmittersRCV000315620 RCV002059297
NM_000117.3(EMD):c.12C>T (p.Tyr4=)	SNV Germline	ChrX:154379496	Conflicting classifications of pathogenicity	Condition: not provided X-linked Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Cardiovascular phenotype Cardiomyopathy EMD-related disorder	Criteria Provided Conflicting Classifications	CA10561493	rs_782011714	7 SubmittersRCV000726522 RCV001085328 RCV001833411 RCV002379153 RCV003150155 RCV003949950
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)	SNV Germline	Chr6:152148220	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053068	rs_754900484	2 SubmittersRCV000317464 RCV002518143
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)	SNV Germline	Chr6:152133294	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052707	rs_781435849	2 SubmittersRCV000347349 RCV001421535
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)	SNV Germline	Chr6:152309897	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055335	rs_202171698	4 SubmittersRCV000271813 RCV000366354 RCV000396416 RCV002519345
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)	SNV Germline	Chr6:152331476	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056224	rs_773593843	3 SubmittersRCV000311235 RCV002519347
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)	SNV Germline	Chr6:152326019	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055809	rs_773536890	5 SubmittersRCV000272900 RCV000383652 RCV000726569 RCV001850477
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)	SNV Germline	Chr6:152206277	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053756	rs_201497427	4 SubmittersRCV000262353 RCV000319442 RCV000713636 RCV001506217
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	SNV Germline	Chr1:156115213	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10607825	rs_886045364	5 SubmittersRCV000274541 RCV000281871 RCV000294652 RCV000301985 RCV000337024 RCV000335629 RCV000329877 RCV000342879 RCV000371803 RCV000389042 RCV000497577 RCV001096351 RCV003231436
NM_170707.4(LMNA):c.936+12C>T	SNV Germline	Chr1:156135324	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Familial partial lipodystrophy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Mandibuloacral dysplasia Congenital muscular dystrophy due to LMNA mutation not specified Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA054697	rs_199881992	5 SubmittersRCV000262176 RCV000274234 RCV000277642 RCV000307693 RCV000313011 RCV000316315 RCV000342630 RCV000370046 RCV000373251 RCV000408245 RCV000611471 RCV001172628 RCV003165785
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	SNV Germline	Chr1:156137028	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 Limb-girdle muscular dystrophy, recessive Congenital muscular dystrophy due to LMNA mutation not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050383	rs_375516745	8 SubmittersRCV000272434 RCV000279873 RCV000283389 RCV000295329 RCV000329882 RCV000337310 RCV000341138 RCV000364565 RCV000387328 RCV000399235 RCV000424743 RCV000733840 RCV000769730 RCV001093869 RCV001097147 RCV002392823 RCV003995796
NM_170707.4(LMNA):c.514-11C>T	SNV Germline	Chr1:156134392	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10608308	rs_886045365	3 SubmittersRCV000259634 RCV000271579 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000366122 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154
NM_170707.4(LMNA):c.1698+57G>A	SNV Germline	Chr1:156137800	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Limb-girdle muscular dystrophy, recessive Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Mandibuloacral dysplasia with type A lipodystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA051003	rs_557334569	1 SubmittersRCV000263913 RCV000267234 RCV000278097 RCV000293451 RCV000318957 RCV000322274 RCV000333140 RCV000358640 RCV000361986 RCV000373664 RCV001099085
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	SNV Germline	Chr1:156115212	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Limb-girdle muscular dystrophy, recessive Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10608333	rs_886045363	4 SubmittersRCV000268830 RCV000268358 RCV000297999 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV000407235 RCV001718593 RCV001101770 RCV003231435
NM_182961.4(SYNE1):c.23791-13C>T	SNV Germline	Chr6:152156110	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4053352	rs_371245873	4 SubmittersRCV000273138 RCV000362832 RCV000840114 RCV002058562 RCV004544667
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)	SNV Germline	Chr6:152232248	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4054337	rs_367864272	3 SubmittersRCV000289395 RCV000381264 RCV000558709 RCV000732780
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)	SNV Germline	Chr6:152256724	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054788	rs_762720357	2 SubmittersRCV000334938 RCV000404424 RCV003766046
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)	SNV Germline	Chr6:152269245	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054910	rs_552884641	2 SubmittersRCV000259637 RCV000333668 RCV002523556
NM_182961.4(SYNE1):c.18574-13T>C	SNV Germline	Chr6:152269299	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054922	rs_148664724	3 SubmittersRCV000293640 RCV000388127 RCV001718766 RCV002058565
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)	SNV Germline	Chr6:152310401	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4055374	rs_780794124	3 SubmittersRCV000326922 RCV000361265 RCV000691761 RCV003137972
NM_182961.4(SYNE1):c.16237-10A>T	SNV Germline	Chr6:152319025	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055565	rs_201078255	3 SubmittersRCV000265828 RCV000360528 RCV001662332 RCV002058566
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)	SNV Germline	Chr6:152331268	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4056181	rs_554814659	3 SubmittersRCV000275716 RCV000314518 RCV003137974 RCV004579543
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)	SNV Germline	Chr6:152367299	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4057166	rs_200222988	3 SubmittersRCV000270454 RCV000363178 RCV000946181 RCV004525922
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)	SNV Germline	Chr6:152385755	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA10621700	rs_886061207	2 SubmittersRCV000302787 RCV000359849 RCV002524471
NM_182961.4(SYNE1):c.7238-11T>C	SNV Germline	Chr6:152398742	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057866	rs_200802315	3 SubmittersRCV000321551 RCV000376327 RCV001705522 RCV002058571
NM_182961.4(SYNE1):c.7029+15A>G	SNV Germline	Chr6:152401123	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057943	rs_757201043	2 SubmittersRCV000351299 RCV000392504 RCV002524472
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)	SNV Germline	Chr6:152416416	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058187	rs_533039765	3 SubmittersRCV000272879 RCV000358215 RCV000647699 RCV004544676
NM_182961.4(SYNE1):c.4008+15T>C	SNV Germline	Chr6:152442060	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058679	rs_368542446	4 SubmittersRCV000271625 RCV000359407 RCV001718767 RCV002058572 RCV004530437
NM_182961.4(SYNE1):c.-49C>T	SNV Germline	Chr6:152628380	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA4059937	rs_373654060	2 SubmittersRCV000289137 RCV000344078 RCV000444333
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)	SNV Germline	Chr6:152143686	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4052966	rs_200678102	3 SubmittersRCV000366512 RCV000401986 RCV001393633 RCV003430922
NM_182961.4(SYNE1):c.23978+11A>T	SNV Germline	Chr6:152155899	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053306	rs_754355745	2 SubmittersRCV000302383 RCV000361532 RCV002058561
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)	SNV Germline	Chr6:152231401	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4054275	rs_141275966	8 SubmittersRCV000320662 RCV000377947 RCV000693288 RCV000734242 RCV002523554 RCV004544668
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=)	SNV Germline	Chr6:152244573	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054620	rs_773211579	1 SubmittersRCV000323661 RCV000378140
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)	SNV Germline	Chr6:152284094	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055054	rs_142229551	7 SubmittersRCV000290216 RCV000344274 RCV000698873 RCV000734241 RCV004544670
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)	SNV Germline	Chr6:152301898	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4055216	rs_752135269	3 SubmittersRCV000343440 RCV000379492 RCV002523557 RCV003137971
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=)	SNV Germline	Chr6:152325200	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4055753	rs_774649954	2 SubmittersRCV000261407 RCV000354009 RCV003430923
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)	SNV Germline	Chr6:152330961	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056131	rs_199701902	4 SubmittersRCV000347777 RCV000517050 RCV000407531 RCV000766931 RCV001086972
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)	SNV Germline	Chr6:152334187	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056347	rs_138650597	4 SubmittersRCV000299593 RCV000729091 RCV000406032 RCV001400115
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)	SNV Germline	Chr6:152354800	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056877	rs_377049622	2 SubmittersRCV000267292 RCV000380501 RCV002058568
NM_182961.4(SYNE1):c.8005-3C>T	SNV Germline	Chr6:152390455	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057634	rs_117084693	3 SubmittersRCV000298941 RCV000356140 RCV000506477 RCV001418792
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)	SNV Germline	Chr6:152399678	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4057897	rs_199558070	2 SubmittersRCV000291231 RCV000345634 RCV000820342
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)	SNV Germline	Chr6:152433878	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058577	rs_376463379	6 SubmittersRCV000300524 RCV000523709 RCV000392428 RCV001244241
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)	SNV Germline	Chr6:152442147	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058710	rs_200763530	4 SubmittersRCV000292473 RCV000389291 RCV000418802 RCV001069971 RCV004530439
NM_182961.4(SYNE1):c.309+14A>G	SNV Germline	Chr6:152520445	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4059809	rs_368595280	2 SubmittersRCV000298423 RCV000353192 RCV002058576
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)	SNV Germline	Chr6:152539997	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4059883	rs_747634832	2 SubmittersRCV000324318 RCV000378389 RCV003137978
NM_182961.4(SYNE1):c.-223-10T>C	SNV Germline	Chr6:152628564	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA10623350	rs_564226533	1 SubmittersRCV000290160 RCV000384594
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)	SNV Germline	Chr6:152141315	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA10626131	rs_576598951	2 SubmittersRCV000281226 RCV000375704 RCV002058560
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)	SNV Germline	Chr6:152180261	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053620	rs_200800604	2 SubmittersRCV000316744 RCV000373737 RCV002520409
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met)	SNV Germline	Chr6:152201923	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053705	rs_772452257	1 SubmittersRCV000312882 RCV000401122
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)	SNV Germline	Chr6:152215017	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053926	rs_200135486	4 SubmittersRCV000271741 RCV000382657 RCV000993153 RCV001477686
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)	SNV Germline	Chr6:152219031	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4053997	rs_146907132	6 SubmittersRCV000279072 RCV000389735 RCV001573541 RCV001861271 RCV002523552
NM_182961.4(SYNE1):c.19693-15G>A	SNV Germline	Chr6:152242455	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054592	rs_187885923	3 SubmittersRCV000272208 RCV000327145 RCV000431826 RCV002058564
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)	SNV Germline	Chr6:152256739	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054790	rs_141934037	6 SubmittersRCV000295099 RCV000350227 RCV000993146 RCV000647660
NM_182961.4(SYNE1):c.17683-11T>C	SNV Germline	Chr6:152294138	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055147	rs_759219567	1 SubmittersRCV000272296 RCV000327258
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	SNV Germline	Chr6:152310753	Conflicting classifications of pathogenicity	Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055423	rs_369292604	8 SubmittersRCV000785033 RCV000785031 RCV000713609 RCV000785032 RCV002520410 RCV001850885
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)	SNV Germline	Chr6:152321364	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055607	rs_138277154	6 SubmittersRCV000275947 RCV000372270 RCV000521314 RCV001087375 RCV001289269 RCV004544672
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)	SNV Germline	Chr6:152330015	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055967	rs_150266354	2 SubmittersRCV000308876 RCV000366132 RCV001247306
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)	SNV Germline	Chr6:152330155	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055990	rs_747838657	3 SubmittersRCV000269205 RCV000326527 RCV001288819 RCV001211385
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)	SNV Germline	Chr6:152330763	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4056099	rs_199673397	3 SubmittersRCV000266106 RCV000318822 RCV001063785 RCV003480619
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)	SNV Germline	Chr6:152330833	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056111	rs_147125369	4 SubmittersRCV000296749 RCV000330224 RCV000733260 RCV001211255
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)	SNV Germline	Chr6:152331131	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4056159	rs_115535983	6 SubmittersRCV000355459 RCV000396144 RCV000437216 RCV000726493 RCV002523558 RCV004544673
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)	SNV Germline	Chr6:152398666	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4057856	rs_370082646	3 SubmittersRCV000285294 RCV000379589 RCV001217418 RCV003441849
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)	SNV Germline	Chr6:152449537	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4058828	rs_555800735	3 SubmittersRCV000272555 RCV000306567 RCV000438202 RCV001315404
NM_182961.4(SYNE1):c.1305C>T (p.His435=)	SNV Germline	Chr6:152483130	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4059464	rs_539575253	2 SubmittersRCV000336072 RCV000390298 RCV002058574
NM_182961.4(SYNE1):c.*191A>G	SNV Germline	Chr6:152122245	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA10626320	rs_567194577	2 SubmittersRCV000314414 RCV000352747 RCV003430921
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=)	SNV Germline	Chr6:152132212	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052690	rs_746159592	1 SubmittersRCV000303224 RCV000390219
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)	SNV Germline	Chr6:152152109	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053243	rs_185088779	2 SubmittersRCV000294900 RCV000335742 RCV000878879
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)	SNV Germline	Chr6:152155030	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4053281	rs_572195368	2 SubmittersRCV000337353 RCV000397990 RCV001474683
NM_182961.4(SYNE1):c.21195+12A>G	SNV Germline	Chr6:152230535	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4054236	rs_200930593	2 SubmittersRCV000313779 RCV000370665 RCV002058563
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)	SNV Germline	Chr6:152284132	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4055063	rs_774683772	2 SubmittersRCV000340722 RCV000395709 RCV003482251
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)	SNV Germline	Chr6:152321779	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4055628	rs_202105931	3 SubmittersRCV000333322 RCV000385473 RCV001861272 RCV003137973
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)	SNV Germline	Chr6:152326391	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055863	rs_370314344	2 SubmittersRCV000284051 RCV000376276 RCV002520411
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)	SNV Germline	Chr6:152331264	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056178	rs_771898973	6 SubmittersRCV000297082 RCV000354118 RCV000522411 RCV002524470 RCV002523559
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)	SNV Germline	Chr6:152347081	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4056523	rs_756840607	4 SubmittersRCV000332061 RCV000382243 RCV000733867 RCV001364560
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)	SNV Germline	Chr6:152367230	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057150	rs_747731841	2 SubmittersRCV000354239 RCV000405441 RCV000553973
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)	SNV Germline	Chr6:152367293	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057163	rs_184006845	3 SubmittersRCV000276679 RCV000334172 RCV000517904 RCV001461224
NM_182961.4(SYNE1):c.9807+5C>T	SNV Germline	Chr6:152368967	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057207	rs_185350092	4 SubmittersRCV000287200 RCV000379408 RCV000597897 RCV001426046
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)	SNV Germline	Chr6:152387220	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications	CA4057568	rs_757960938	3 SubmittersRCV000319308 RCV000386205 RCV001850886 RCV002472995
NM_182961.4(SYNE1):c.7713-11C>T	SNV Germline	Chr6:152391579	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type not specified Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4057699	rs_201131946	3 SubmittersRCV000286986 RCV000341950 RCV000602332 RCV003766047
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)	SNV Germline	Chr6:152401259	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4057964	rs_190867604	5 SubmittersRCV000268569 RCV000353917 RCV000558138 RCV000598418
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)	SNV Germline	Chr6:152428273	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058430	rs_771955377	2 SubmittersRCV000263340 RCV000318617 RCV001416134
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)	SNV Germline	Chr6:152442131	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4058706	rs_201144728	4 SubmittersRCV000289316 RCV000332375 RCV000429081 RCV001069972 RCV004530438
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)	SNV Germline	Chr6:152483173	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4059475	rs_150409035	3 SubmittersRCV000309449 RCV000393945 RCV001322802 RCV003233627

SNV
Germline

Chr6:152321898

Pathogenic

Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA252215

rs_606231134

6 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382

NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)

SNV
Germline

Chr6:152140027

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
not specified
Autosomal recessive ataxia, Beauce type
Intellectual disability
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA115488

rs_119103248

11 SubmittersRCV000002424 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV000535163

NM_000117.3(EMD):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:154379485

Pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA121381

rs_267606782

3 SubmittersRCV000254894 RCV000802953

NM_000117.3(EMD):c.130C>T (p.Gln44Ter)

SNV
Germline

ChrX:154379737

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA121384

rs_132630262

6 SubmittersRCV000011926 RCV000078128 RCV002381248

NM_000117.3(EMD):c.548C>A (p.Pro183His)

SNV
Germline

ChrX:154380980

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

CA121387

rs_104894805

2 SubmittersRCV001224353

NM_000117.3(EMD):c.547C>A (p.Pro183Thr)

SNV
Germline

ChrX:154380979

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

No Assertion Criteria Provided

CA121389

rs_104894806

1 SubmittersRCV000011929

NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)

SNV
Germline

ChrX:136210023

Pathogenic

Emery-Dreifuss muscular dystrophy 6

No Assertion Criteria Provided

CA121558

rs_122459148

1 SubmittersRCV000012312

NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)

SNV
Germline

ChrX:136208578

Pathogenic

Emery-Dreifuss muscular dystrophy 6
X-linked myopathy with postural muscle atrophy

Criteria Provided
Single Submitter

CA121565

rs_122459149

2 SubmittersRCV000012313 RCV003511982

NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr1:156114934

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Single Submitter

CA017675

rs_61046466

4 SubmittersRCV000015564 RCV000041328 RCV000057350

NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)

SNV
Germline

Chr1:156136413

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2
Muscular dystrophy
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA017033

rs_58932704

18 SubmittersRCV000015565 RCV000057273 RCV000472112 RCV000500734 RCV001095717 RCV003313922 RCV001813989

NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)

SNV
Germline/somatic

Chr1:156137204

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017498

rs_57520892

6 SubmittersRCV000015569 RCV000015570 RCV000700159 RCV000057327 RCV001375641 RCV004018633

NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)

SNV
Germline

Chr1:156137213

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

No Assertion Criteria Provided

CA017541

rs_60934003

2 SubmittersRCV000015571 RCV000057333

NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)

SNV
Germline

Chr1:156136985

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Laminopathy
Condition: not provided
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
11 conditions
Cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA014814

rs_11575937

17 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004532361

NM_170707.4(LMNA):c.664C>T (p.His222Tyr)

SNV
Germline

Chr1:156134829

Pathogenic

Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

No Assertion Criteria Provided

CA018412

rs_28928901

3 SubmittersRCV000015583 RCV000057440 RCV004577319

NM_170707.4(LMNA):c.1130G>A (p.Arg377His)

SNV
Germline

Chr1:156136094

Pathogenic

Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Sudden unexplained death
Cardiovascular phenotype
Dilated cardiomyopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA016651

rs_61672878

9 SubmittersRCV000503996 RCV000547164 RCV000681569 RCV000057235 RCV001089610 RCV002321484 RCV003319170

NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)

SNV
Germline

Chr1:156130658

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Single Submitter

CA018038

rs_60864230

3 SubmittersRCV000015602 RCV000057398 RCV000686691

NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)

SNV
Germline

Chr1:156134942

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

Criteria Provided
Single Submitter

CA018615

rs_58048078

5 SubmittersRCV000015605 RCV000057457

NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)

SNV
Germline

Chr1:156137210

Conflicting classifications of pathogenicity

Condition: not provided
Mandibuloacral dysplasia with type A lipodystrophy
Cardiovascular phenotype
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA017534

rs_60580541

5 SubmittersRCV000057332 RCV000015608 RCV002399329 RCV002467496 RCV003234906

NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr1:156137017

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

Criteria Provided
Single Submitter

CA017298

rs_56699480

3 SubmittersRCV000015609 RCV000057304

NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)

SNV
Germline

Chr1:156134910

Pathogenic/Likely pathogenic

Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018559

rs_121912496

10 SubmittersRCV000015621 RCV000057452 RCV000201142 RCV000814531

NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)

SNV
Germline

Chr1:156136036

Pathogenic

Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease type 2
Muscular dystrophy
Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA016555

rs_60458016

9 SubmittersRCV000015623 RCV000015622 RCV000057227 RCV000470514 RCV000502108 RCV001420791

NM_000117.3(EMD):c.470G>A (p.Arg157Gln)

SNV
Germline

ChrX:154380902

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked
not specified

Criteria Provided
Conflicting Classifications

CA325734

rs_148515772

3 SubmittersRCV000686102 RCV003492301 RCV003103716

NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)

SNV
Germline

Chr3:14135823

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Criteria Provided
Conflicting Classifications

CA024760

rs_193922707

5 SubmittersRCV000030554 RCV000642420 RCV003153307 RCV003352751 RCV002482923

NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)

SNV
Germline

Chr3:14130912

Pathogenic

Emery-Dreifuss muscular dystrophy 7, autosomal dominant

No Assertion Criteria Provided

CA024638

rs_397514044

1 SubmittersRCV000033854

NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)

SNV
Germline

Chr3:14130930

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA024641

rs_144811578

6 SubmittersRCV000033855 RCV000553145 RCV000766912 RCV000183950 RCV000621435 RCV000777738

NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr1:156134839

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Abnormality of the musculature

Criteria Provided
Conflicting Classifications

CA018437

rs_199474724

8 SubmittersRCV000034134 RCV000190400 RCV001178806 RCV001781340 RCV001384595 RCV003996150 RCV001814022

NM_000117.3(EMD):c.144C>T (p.Leu48=)

SNV
Germline

ChrX:154379751

Conflicting classifications of pathogenicity

not specified
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
EMD-related disorder

Criteria Provided
Conflicting Classifications

CA131115

rs_200537612

11 SubmittersRCV000035104 RCV000461030 RCV000617921 RCV000770586 RCV003904897

NM_000117.3(EMD):c.272A>G (p.Asn91Ser)

SNV
Germline

ChrX:154380240

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA131118

rs_137977232

8 SubmittersRCV000035105 RCV000770588 RCV002426545 RCV000756071 RCV001085397

NM_000117.3(EMD):c.571A>G (p.Met191Val)

SNV
Germline

ChrX:154381003

Conflicting classifications of pathogenicity

not specified
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

CA131133

rs_397515752

4 SubmittersRCV000035110 RCV001703449 RCV001852704 RCV003492339

NM_000117.3(EMD):c.646G>A (p.Gly216Arg)

SNV
Germline

ChrX:154381078

Conflicting classifications of pathogenicity

not specified
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA131136

rs_147920229

5 SubmittersRCV000035111 RCV001089148 RCV002354186 RCV000732781

NM_024334.3(TMEM43):c.705+7G>A

SNV
Germline

Chr3:14134898

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 5
Cardiomyopathy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA024745

rs_201916031

13 SubmittersRCV000039391 RCV000587714 RCV001085012 RCV001170683 RCV004017330 RCV002504905

NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)

SNV
Germline

Chr3:14139244

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
Cardiomyopathy
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA024803

rs_199526104

12 SubmittersRCV000039395 RCV000457565 RCV000766918 RCV000776154 RCV002496628 RCV003372610

NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr1:156136093

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA016641

rs_397517889

11 SubmittersRCV000041308 RCV000223811 RCV000469099 RCV000592134 RCV003236576 RCV003343619 RCV004546422

NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)

SNV
Germline

Chr1:156136257

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Primary familial dilated cardiomyopathy
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA016870

rs_61094188

18 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000627127 RCV000769728 RCV001172616 RCV002345327 RCV003996453

NM_170707.4(LMNA):c.1566C>T (p.Cys522=)

SNV
Germline

Chr1:156137190

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy, recessive
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA017459

rs_149339264

17 SubmittersRCV000041322 RCV000242680 RCV000233927 RCV000262946 RCV000285909 RCV000289458 RCV000337260 RCV000320484 RCV000340752 RCV000377490 RCV000399953 RCV000380292 RCV000777760 RCV001093764 RCV001098994 RCV001310873 RCV001172631

NM_170707.4(LMNA):c.357C>T (p.Arg119=)

SNV
Germline

Chr1:156130617

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease
LMNA-related disorder

Criteria Provided
Conflicting Classifications

CA014926

rs_41313880

25 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001096443 RCV001101880 RCV001101881 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001173420 RCV004528231

NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)

SNV
Germline

Chr1:156115268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hypertrophic cardiomyopathy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Familial partial lipodystrophy, Dunnigan type

Criteria Provided
Conflicting Classifications

CA017949

rs_397517901

14 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001098094 RCV001182267 RCV003996462 RCV002336155 RCV004558292

NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)

SNV
Germline

Chr1:156134838

Pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018429

rs_60682848

11 SubmittersRCV000056001 RCV000057442 RCV000194831 RCV000211792 RCV000464494 RCV001170453 RCV002362662

NM_170707.4(LMNA):c.1149G>A (p.Glu383=)

SNV
Germline

Chr1:156136113

Conflicting classifications of pathogenicity

Condition: not provided
Dilated Cardiomyopathy, Dominant
Hutchinson-Gilford syndrome
not specified
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy, recessive
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA016698

rs_267607603

9 SubmittersRCV000057240 RCV000259414 RCV000263024 RCV000259097 RCV000289312 RCV000293812 RCV000298159 RCV000324542 RCV000327855 RCV000355460 RCV000377531 RCV000384768 RCV000536971 RCV000619516 RCV000776145 RCV001093854 RCV001098597

NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)

SNV
Germline

Chr1:156115052

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA017029

rs_58436778

4 SubmittersRCV000057272 RCV000692072 RCV002468560

NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)

SNV
Germline

Chr1:156137207

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2
Hutchinson-Gilford syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017504

rs_57629361

6 SubmittersRCV000057328 RCV000201062 RCV001045262 RCV000986432

NM_170707.4(LMNA):c.1608+5G>C

SNV
Germline

Chr1:156137237

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA017561

rs_267607539

5 SubmittersRCV000015589 RCV000057336 RCV002390205

NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)

SNV
Germline

Chr1:156137678

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
not specified
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease
Cardiomyopathy
Monogenic diabetes
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017642

rs_267607613

13 SubmittersRCV000057347 RCV000208352 RCV000454519 RCV000812762 RCV001004948 RCV000785171 RCV001174246 RCV001185752 RCV001174410 RCV003996506

NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)

SNV
Germline

Chr1:156134860

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA018472

rs_57207746

3 SubmittersRCV000057445 RCV000201054 RCV001052813

NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)

SNV
Germline

Chr1:156134911

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Muscular dystrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2B1
Abnormality of the musculature
Congenital muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA018567

rs_59332535

17 SubmittersRCV000057453 RCV000201012 RCV000496185 RCV000501991 RCV000548477 RCV000662104 RCV001814042 RCV004018991 RCV003230389

NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)

SNV
Germline

Chr6:152148369

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4053105

rs_267600861

6 SubmittersRCV000343407 RCV000647639 RCV001151473 RCV001151474 RCV004528268

NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)

SNV
Germline

Chr6:152155025

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053280

rs_267600862

4 SubmittersRCV000301160 RCV000398017 RCV001854262 RCV001753480

NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)

SNV
Germline

Chr6:152350676

Conflicting classifications of pathogenicity

Intellectual disability
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA145517

rs_180727534

7 SubmittersRCV000077791 RCV000393083 RCV000284405 RCV000815827 RCV000713587

NM_000117.3(EMD):c.450-2A>G

SNV
Germline

ChrX:154380880

Pathogenic/Likely pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA220368

rs_398123158

3 SubmittersRCV000078132 RCV000816244 RCV003492432

NM_182961.4(SYNE1):c.3669+4C>G

SNV
Germline

Chr6:152447454

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155464

rs_376511242

4 SubmittersRCV000118480 RCV000536058 RCV000726269

NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)

SNV
Germline

Chr6:152425392

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA231538

rs_587780469

2 SubmittersRCV000118487 RCV002055309

NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser)

SNV
Germline

Chr14:64122422

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA155533

rs_146894065

2 SubmittersRCV000118512 RCV001854571

NM_170707.4(LMNA):c.1488+14C>T

SNV
Germline

Chr1:156137042

Conflicting classifications of pathogenicity

not specified
Familial partial lipodystrophy, Dunnigan type
Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017307

rs_377700689

10 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630

NM_170707.4(LMNA):c.1634G>A (p.Arg545His)

SNV
Germline

Chr1:156137679

Conflicting classifications of pathogenicity

not specified
Peripheral neuropathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Dilated cardiomyopathy 1S
Cardiovascular phenotype
Cardiomyopathy
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation
Lipodystrophy
7 conditions
LMNA-related disorder
Autosomal semi-dominant severe lipodystrophic laminopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017649

rs_142191737

23 SubmittersRCV000150955 RCV000449630 RCV000505801 RCV000468904 RCV000491650 RCV000621850 RCV000771819 RCV001101061 RCV001101057 RCV001101058 RCV001101059 RCV001101060 RCV001100810 RCV001101055 RCV001101062 RCV001248958 RCV001781492 RCV004532675 RCV003993830 RCV003998208

NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)

SNV
Germline

Chr3:14132581

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA024692

rs_544554435

9 SubmittersRCV000156279 RCV000247251 RCV000642410 RCV001186917 RCV001731402 RCV002484950

NM_000117.3(EMD):c.266-2A>G

SNV
Germline

ChrX:154380232

Pathogenic

Neuromuscular disease
Condition: not provided
Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA273149

rs_727503036

4 SubmittersRCV000150647 RCV000727586 RCV001280616

NM_000117.3(EMD):c.598T>C (p.Trp200Arg)

SNV
Germline

ChrX:154381030

Conflicting classifications of pathogenicity

not specified
X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA176027

rs_374981936

6 SubmittersRCV000150648 RCV000638213 RCV001560049 RCV001831937 RCV002354342

NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)

SNV
Germline

Chr3:14135822

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA024757

rs_139842014

7 SubmittersRCV000157523 RCV000467886 RCV000523010 RCV002408708 RCV002492613

NM_024334.3(TMEM43):c.121A>G (p.Met41Val)

SNV
Germline

Chr3:14129520

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 5
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA024600

rs_144334386

13 SubmittersRCV000172113 RCV000770178 RCV001047322 RCV002362882 RCV002492722

NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys)

SNV
Germline

Chr14:64210042

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA239416

rs_200152990

3 SubmittersRCV000173938 RCV001114656

NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)

SNV
Germline

Chr6:152244594

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA239421

rs_147143947

10 SubmittersRCV000202692 RCV000713621 RCV000813932 RCV001152070 RCV001152071 RCV002516606 RCV004535192

NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)

SNV
Germline

Chr14:64214272

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA239424

rs_141741640

9 SubmittersRCV000173944 RCV000548971 RCV001288489 RCV003955019

NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys)

SNV
Germline

Chr14:64225344

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA239699

rs_201472187

3 SubmittersRCV000174198 RCV000550662

NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=)

SNV
Germline

Chr6:152220884

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA239708

rs_376651419

2 SubmittersRCV000174201 RCV002056919

NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)

SNV
Germline

Chr6:152176541

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA239987

rs_141315921

6 SubmittersRCV000174437 RCV000871390 RCV001697204 RCV002517677 RCV004539613

NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)

SNV
Germline

Chr6:152484879

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA240160

rs_146366996

10 SubmittersRCV000174608 RCV000327087 RCV000370223 RCV000713584 RCV001081601 RCV004539614

NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)

SNV
Germline

Chr6:152151654

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA240197

rs_144056525

7 SubmittersRCV000174636 RCV000323013 RCV000382388 RCV000554366 RCV001711347 RCV004539617

NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)

SNV
Germline

Chr6:152148069

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA201107

rs_141716975

13 SubmittersRCV000174640 RCV000321230 RCV000710252 RCV000987801 RCV001081859 RCV002516637

NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)

SNV
Germline

Chr6:152148154

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA240207

rs_794727110

2 SubmittersRCV000174641 RCV001503696

NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)

SNV
Germline

Chr6:152148194

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA240210

rs_142985368

7 SubmittersRCV000174642 RCV000285979 RCV000380430 RCV000647647 RCV001078935

NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)

SNV
Germline

Chr6:152148298

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Intellectual disability
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA240213

rs_141586001

8 SubmittersRCV000174643 RCV000710251 RCV000647654 RCV001252114 RCV002516638 RCV004528929

NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)

SNV
Germline

Chr6:152145533

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified

Criteria Provided
Conflicting Classifications

CA240219

rs_770649913

4 SubmittersRCV000174646 RCV001497511 RCV003398886

NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)

SNV
Germline

Chr6:152136660

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA240407

rs_118187988

8 SubmittersRCV000174819 RCV000268696 RCV000328497 RCV000550060 RCV001083531

NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)

SNV
Germline

Chr6:152135141

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA240413

rs_41291047

12 SubmittersRCV000625938 RCV000694728 RCV000710253 RCV001156685 RCV004020072 RCV004545754

NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)

SNV
Germline

Chr6:152628309

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA241816

rs_139600654

4 SubmittersRCV000175963 RCV000701022 RCV001154922 RCV001156596

NM_182961.4(SYNE1):c.2569-8C>T

SNV
Germline

Chr6:152456052

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA242369

rs_376033376

5 SubmittersRCV000316558 RCV000373479 RCV000724832 RCV001081958

NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)

SNV
Germline

Chr14:63997383

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA242588

rs_192128801

4 SubmittersRCV000176597 RCV001087661

NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)

SNV
Germline

Chr6:152451159

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA242715

rs_143093185

4 SubmittersRCV000176691 RCV000529381

NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)

SNV
Germline

Chr6:152447591

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA243061

rs_117461489

10 SubmittersRCV000704237 RCV000724438 RCV001156268 RCV001156269 RCV004537420

NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)

SNV
Germline

Chr6:152441172

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA244179

rs_149109801

11 SubmittersRCV000177665 RCV000298901 RCV000360643 RCV000540415 RCV001081631

NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)

SNV
Germline

Chr14:64016590

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA244657

rs_764521226

4 SubmittersRCV000177756 RCV001112395 RCV004020116

NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)

SNV
Germline

Chr6:152428359

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Intellectual disability
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA244907

rs_138617999

13 SubmittersRCV000324886 RCV000379472 RCV000560151 RCV000713672 RCV001252118 RCV003317128 RCV004537453

NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)

SNV
Germline

Chr14:64022801

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA244963

rs_201327410

4 SubmittersRCV000177963 RCV001223487 RCV004020119

NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)

SNV
Germline

Chr6:152425519

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Inborn genetic diseases
Condition: not provided
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA245026

rs_150702500

6 SubmittersRCV000178011 RCV000392049 RCV000549055 RCV002516764 RCV001721121 RCV000340175

NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)

SNV
Germline

Chr6:152416438

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA245585

rs_149146258

12 SubmittersRCV000178473 RCV000362586 RCV000309218 RCV000756737 RCV001079411

NM_182961.4(SYNE1):c.6231-7A>G

SNV
Germline

Chr6:152409716

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA245676

rs_368858186

2 SubmittersRCV000178541 RCV002517737

NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)

SNV
Germline

Chr6:152401233

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA202961

rs_138004884

8 SubmittersRCV000178637 RCV000299095 RCV000402645 RCV000713683 RCV001082120

NM_182961.4(SYNE1):c.6826-6A>G

SNV
Germline

Chr6:152401347

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA245825

rs_183683592

8 SubmittersRCV000265036 RCV000329471 RCV000724200 RCV001089311

NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)

SNV
Germline

Chr14:64053143

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA245851

rs_200742016

6 SubmittersRCV000178677 RCV001085735 RCV000724424 RCV003917669

NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)

SNV
Germline

Chr14:64051889

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA245855

rs_199561218

5 SubmittersRCV000696837 RCV000713721

NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)

SNV
Germline

Chr14:64052824

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA245857

rs_200909650

6 SubmittersRCV000178680 RCV000647531 RCV004020129

NM_182961.4(SYNE1):c.7647C>T (p.His2549=)

SNV
Germline

Chr6:152395581

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA246320

rs_113163375

5 SubmittersRCV000179096 RCV000713689 RCV001080529

NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)

SNV
Germline

Chr6:152391305

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246340

rs_117480635

7 SubmittersRCV000179112 RCV000276858 RCV000369171 RCV000533715 RCV001080046 RCV002517748

NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)

SNV
Germline

Chr6:152387156

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA246401

rs_757104773

4 SubmittersRCV000252722 RCV000724249 RCV001412128

NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)

SNV
Germline

Chr14:64080605

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA246452

rs_144596211

4 SubmittersRCV000179186 RCV001086536

NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)

SNV
Germline

Chr6:152376557

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA246486

rs_117360770

8 SubmittersRCV000179213 RCV000349953 RCV000388054 RCV000713694 RCV001089269 RCV004537483

NM_000117.3(EMD):c.454C>T (p.Arg152Cys)

SNV
Germline

ChrX:154380886

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
not specified
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

CA246531

rs_376456050

10 SubmittersRCV000179255 RCV000616618 RCV002298506 RCV003491930

NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)

SNV
Germline

Chr6:152362209

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA246940

rs_145287138

3 SubmittersRCV000179645 RCV000304390 RCV000354585 RCV002054136

NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)

SNV
Germline

Chr6:152358506

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA246974

rs_148522587

7 SubmittersRCV000179666 RCV000385530 RCV000295905 RCV000536965

NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)

SNV
Germline

Chr6:152353641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA246990

rs_148028681

6 SubmittersRCV000179681 RCV000647710 RCV001078572 RCV004539685

NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=)

SNV
Germline

Chr14:64122382

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA247422

rs_141379692

3 SubmittersRCV000180040 RCV001078948

NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=)

SNV
Germline

Chr6:152350660

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA247426

rs_794727886

2 SubmittersRCV000180043 RCV001423609

NM_182914.3(SYNE2):c.13918-6T>C

SNV
Germline

Chr14:64128446

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA247449

rs_187859624

4 SubmittersRCV000180063 RCV001085053 RCV003955093

NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)

SNV
Germline

Chr6:152334238

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA247454

rs_141202420

5 SubmittersRCV000269987 RCV000306512 RCV000724520 RCV001081777

NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)

SNV
Germline

Chr6:152330422

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA247458

rs_41301343

10 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000714610 RCV000710240 RCV004537501

NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)

SNV
Germline

Chr6:152329916

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247461

rs_141057568

6 SubmittersRCV000180076 RCV000367243 RCV000274818 RCV000527002 RCV001704857

NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)

SNV
Germline

Chr6:152331113

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA247464

rs_111511993

6 SubmittersRCV000302936 RCV000403879 RCV000724521 RCV001085969

NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)

SNV
Germline

Chr6:152331584

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA247470

rs_140136749

7 SubmittersRCV000339452 RCV000377824 RCV000713595 RCV001085663 RCV004537502

NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)

SNV
Germline

Chr6:152326059

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209917

rs_139170018

8 SubmittersRCV000195238 RCV000325682 RCV000382649 RCV000542729 RCV000710243

NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)

SNV
Germline

Chr6:152325173

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA247861

rs_138368397

5 SubmittersRCV000180405 RCV000647614 RCV001657961

NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)

SNV
Germline

Chr6:152323532

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247873

rs_201313856

8 SubmittersRCV000180411 RCV000287552 RCV000384250 RCV000689662 RCV000724801

NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)

SNV
Germline

Chr14:64143910

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA247888

rs_143088941

4 SubmittersRCV000180420 RCV001523482 RCV003937637

NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)

SNV
Germline

Chr14:64158760

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA247901

rs_74975380

4 SubmittersRCV000180430 RCV001084063

NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)

SNV
Germline

Chr14:64158689

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA247903

rs_149354607

7 SubmittersRCV000688612 RCV000724664 RCV003937639 RCV004020171

NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr)

SNV
Germline

Chr14:64162172

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA247917

rs_140265039

2 SubmittersRCV000180443 RCV001088614

NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)

SNV
Germline

Chr14:64163507

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA247923

rs_148492034

5 SubmittersRCV000180447 RCV000259810 RCV003917680

NM_170707.4(LMNA):c.1551G>A (p.Gln517=)

SNV
Germline

Chr1:156137175

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Limb-girdle muscular dystrophy, recessive
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017421

rs_41314035

20 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000274426 RCV000309672 RCV000306169 RCV000331994 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001093871 RCV001100975 RCV001172636 RCV003996588

NM_182914.3(SYNE2):c.16480-10C>G

SNV
Germline

Chr14:64165275

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA248288

rs_768388576

3 SubmittersRCV000713708 RCV001413927

NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)

SNV
Germline

Chr6:152301905

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248300

rs_148731167

4 SubmittersRCV000180738 RCV000285052 RCV000538886 RCV000339826 RCV001704859

NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)

SNV
Germline

Chr14:64167345

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA248303

rs_149227847

6 SubmittersRCV000180739 RCV000526342 RCV002469047 RCV003955103

NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=)

SNV
Germline

Chr6:152294053

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA248317

rs_550385131

2 SubmittersRCV000180746 RCV002054157

NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)

SNV
Germline

Chr6:152294013

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248320

rs_113962905

8 SubmittersRCV000180747 RCV000275868 RCV000371160 RCV001085970 RCV001706154

NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)

SNV
Germline

Chr6:152293983

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Intellectual disability
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA248323

rs_147998933

14 SubmittersRCV000261210 RCV000297752 RCV000542124 RCV000710246 RCV001252117 RCV003317130 RCV004537517

NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=)

SNV
Germline

Chr6:152278230

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA248344

rs_769588658

2 SubmittersRCV000180765 RCV002054159

NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)

SNV
Germline

Chr1:156130658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Charcot-Marie-Tooth disease type 2B1
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Cardiomyopathy
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018032

rs_60864230

10 SubmittersRCV000182356 RCV000204542 RCV001098184 RCV001098185 RCV001096448 RCV001096449 RCV001098186 RCV001098188 RCV001098187 RCV001098189 RCV001098190 RCV001098191 RCV001191911 RCV002372114 RCV003996714

NM_170707.4(LMNA):c.471G>A (p.Thr157=)

SNV
Germline

Chr1:156130731

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2B1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018129

rs_150645079

15 SubmittersRCV000182358 RCV000778038 RCV000727266 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452

NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)

SNV
Germline

Chr3:14135170

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5

Criteria Provided
Conflicting Classifications

CA024748

rs_367910936

9 SubmittersRCV000183939 RCV000618132 RCV000766915 RCV000769156 RCV002485232 RCV000642423

NM_000117.3(EMD):c.187+1G>T

SNV
Germline

ChrX:154379795

Pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA335148

rs_794729010

2 SubmittersRCV000497569 RCV001037353

NM_000117.3(EMD):c.449+5G>A

SNV
Germline

ChrX:154380807

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA335149

rs_370840449

5 SubmittersRCV000183442 RCV000804499 RCV001271616 RCV002326991

NM_000117.3(EMD):c.671C>T (p.Pro224Leu)

SNV
Germline

ChrX:154381103

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

CA335159

rs_782559230

6 SubmittersRCV000183446 RCV000638226 RCV001271620 RCV003491932

NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)

SNV
Germline

Chr6:152143733

Pathogenic

Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA277296

rs_797046025

2 SubmittersRCV000194323 RCV003765237

NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)

SNV
Germline

Chr6:152148206

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA206679

rs_201029723

3 SubmittersRCV000193297 RCV000346757 RCV000291749 RCV000951589

NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)

SNV
Germline

Chr6:152239573

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209940

rs_190673256

4 SubmittersRCV000195255 RCV000554123 RCV001288032

NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)

SNV
Germline

Chr6:152323601

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA206616

rs_797046023

2 SubmittersRCV000193259 RCV003765236

NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)

SNV
Germline

Chr6:152331354

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA205828

rs_139075013

6 SubmittersRCV000192775 RCV000366885 RCV000733162 RCV000714721 RCV001857703

NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)

SNV
Germline

Chr14:63949937

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA207018

rs_139238702

3 SubmittersRCV000193493 RCV000556513

NM_170707.4(LMNA):c.810+1G>C

SNV
Germline

Chr1:156134976

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Congenital muscular dystrophy due to LMNA mutation

Criteria Provided
Single Submitter

CA277528

rs_267607632

1 SubmittersRCV000199480

NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)

SNV
Germline

Chr6:152236240

Pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

CA351316

rs_780451185

3 SubmittersRCV000993149 RCV000995657 RCV001381375

NM_170707.4(LMNA):c.937-8C>A

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054885

rs_751707982

6 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096750 RCV001096752 RCV001098488 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001697242

NM_000117.3(EMD):c.400-9C>T

SNV
Germline

ChrX:154380744

Conflicting classifications of pathogenicity

not specified
X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561599

rs_782061626

9 SubmittersRCV000219256 RCV000608494 RCV000726976 RCV001828062

NM_000117.3(EMD):c.428C>T (p.Ser143Phe)

SNV
Germline

ChrX:154380781

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
X-linked Emery-Dreifuss muscular dystrophy
not specified
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561604

rs_139983160

11 SubmittersRCV000725641 RCV000770590 RCV001081535 RCV001729471 RCV001828104 RCV002327099

NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)

SNV
Germline

Chr1:156137027

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
11 conditions
Hutchinson-Gilford syndrome
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Mandibuloacral dysplasia with type A lipodystrophy
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Cardiomyopathy
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050321

rs_200466188

15 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001100889 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001098789 RCV001100613 RCV001100618 RCV001100619 RCV001100620 RCV001180056 RCV002392729 RCV002494678 RCV003998908

NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)

SNV
Germline

Chr14:64031299

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7220854

rs_45590135

7 SubmittersRCV000239148 RCV000556315 RCV001288500

NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)

SNV
Germline

Chr6:152283981

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055035

rs_138039375

5 SubmittersRCV000248584 RCV000725762 RCV001087053

NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)

SNV
Germline

Chr3:14129490

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA056258

rs_754536393

4 SubmittersRCV000244386 RCV000707015 RCV002494784 RCV001183765

NM_000117.3(EMD):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:154379487

Pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603810

rs_886044771

3 SubmittersRCV000518435 RCV001068392

NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val)

SNV
Germline

Chr14:64017701

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220363

rs_200143024

2 SubmittersRCV000340242 RCV000812641

NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)

SNV
Germline

Chr14:64070707

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7221534

rs_201000414

6 SubmittersRCV000317677 RCV000535384 RCV003947826

NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val)

SNV
Germline

Chr14:64027764

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220742

rs_375543783

3 SubmittersRCV000361625 RCV000534225

NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)

SNV
Germline

Chr6:152219052

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053999

rs_151247098

7 SubmittersRCV000332066 RCV000724834 RCV001079056 RCV001331541

NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)

SNV
Germline

Chr6:152236215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4054456

rs_115534729

7 SubmittersRCV000309842 RCV000657157 RCV001085639 RCV002519087

NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)

SNV
Germline

Chr6:152428297

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10603835

rs_886042121

2 SubmittersRCV000298522 RCV000550380

NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=)

SNV
Germline

Chr14:64098029

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222039

rs_372251838

2 SubmittersRCV000263331 RCV001443938

NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)

SNV
Germline

Chr6:152149564

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053150

rs_201799566

6 SubmittersRCV000298749 RCV000320790 RCV000356754 RCV000724848 RCV001087729

NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)

SNV
Germline

Chr14:64132410

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222794

rs_200997641

4 SubmittersRCV000387545 RCV000694388

NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=)

SNV
Germline

Chr14:64188660

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223826

rs_766073729

2 SubmittersRCV000350716 RCV002518821

NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)

SNV
Germline

Chr14:64220540

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7224647

rs_149978500

8 SubmittersRCV000710262 RCV001082623 RCV003939941

NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)

SNV
Germline

Chr6:152373055

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057316

rs_35379711

8 SubmittersRCV000265517 RCV000349081 RCV000357821 RCV000551175 RCV001086377

NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)

SNV
Germline

Chr6:152441248

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058660

rs_144566713

6 SubmittersRCV000268310 RCV000336103 RCV000320984 RCV000647679 RCV001086374

NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)

SNV
Germline

Chr6:152399697

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057902

rs_147947903

6 SubmittersRCV000296396 RCV000407110 RCV000401012 RCV000647695 RCV001082880

NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)

SNV
Germline

Chr6:152399777

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4057918

rs_142747430

8 SubmittersRCV000557308 RCV000713686 RCV002519100

NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)

SNV
Germline

Chr14:64134082

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7222812

rs_141488398

7 SubmittersRCV000344544 RCV000559161 RCV000859415 RCV003967704

NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)

SNV
Germline

Chr6:152136653

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052785

rs_764235096

4 SubmittersRCV000291852 RCV001151233 RCV001151232 RCV002521871

NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=)

SNV
Germline

Chr14:64113469

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222245

rs_143927906

2 SubmittersRCV000284836 RCV001427827

NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)

SNV
Germline

Chr6:152427723

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058384

rs_146789107

8 SubmittersRCV000276411 RCV000371036 RCV000659066 RCV001087521

NM_000117.3(EMD):c.449+10G>C

SNV
Germline

ChrX:154380812

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561610

rs_782467790

2 SubmittersRCV000272940 RCV001424183

NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys)

SNV
Germline

Chr14:64002068

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7220054

rs_370541277

4 SubmittersRCV000265432 RCV001078836 RCV004021097

NM_182914.3(SYNE2):c.18603G>A (p.Arg6201=)

SNV
Germline

Chr14:64210004

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224146

rs_141051652

2 SubmittersRCV000326066 RCV001085338

NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg)

SNV
Germline

Chr14:64159436

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7223251

rs_150677837

4 SubmittersRCV000387733 RCV000533714 RCV000725022

NM_182914.3(SYNE2):c.14844-8C>G

SNV
Germline

Chr14:64139933

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222905

rs_375500620

3 SubmittersRCV000295755 RCV000725023 RCV001436262

NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu)

SNV
Germline

Chr14:64056125

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221378

rs_8010699

3 SubmittersRCV000393944 RCV000532586

NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)

SNV
Germline

Chr6:152353298

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Conflicting Classifications

CA4056751

rs_144797744

7 SubmittersRCV000286476 RCV000341441 RCV000713581 RCV000701706 RCV001535685

NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)

SNV
Germline

Chr6:152218380

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053964

rs_35686213

7 SubmittersRCV000293341 RCV000294188 RCV000351537 RCV000713633 RCV001084197

NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)

SNV
Germline

Chr6:152214949

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4053914

rs_371642308

7 SubmittersRCV000303479 RCV000360607 RCV000725044 RCV001055549 RCV004021101

NM_000117.3(EMD):c.662G>T (p.Arg221Leu)

SNV
Germline

ChrX:154381094

Conflicting classifications of pathogenicity

not specified
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561657

rs_782057378

5 SubmittersRCV000331953 RCV000725045 RCV001446491 RCV001833317 RCV002365299

NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)

SNV
Germline

Chr6:152278182

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054970

rs_142251671

4 SubmittersRCV000375864 RCV001078518 RCV001660543 RCV004535274

NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)

SNV
Germline

Chr14:64113404

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7222235

rs_149296737

8 SubmittersRCV000380064 RCV001086857 RCV004021102 RCV003909927

NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)

SNV
Germline

Chr6:152330917

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4056126

rs_199761238

10 SubmittersRCV000647673 RCV000725051 RCV001152801 RCV001152802 RCV002518844

NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)

SNV
Germline

Chr6:152367256

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057153

rs_147281213

5 SubmittersRCV000382121 RCV000529012 RCV001155444 RCV001155443

NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)

SNV
Germline

Chr14:63993853

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219765

rs_370800852

3 SubmittersRCV000333138 RCV001087676

NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=)

SNV
Germline

Chr14:63997045

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219852

rs_765896679

2 SubmittersRCV000293458 RCV001455862

NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)

SNV
Germline

Chr6:152224576

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054161

rs_140962690

6 SubmittersRCV000309798 RCV000326032 RCV000395237 RCV001203032 RCV004543000

NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)

SNV
Germline

Chr6:152387199

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057566

rs_142676206

5 SubmittersRCV000360507 RCV000725061 RCV000530905 RCV004543001

NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)

SNV
Germline

Chr6:152330464

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056044

rs_150062167

5 SubmittersRCV000326789 RCV000875093 RCV001288818 RCV004543002

NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)

SNV
Germline

Chr6:152427744

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058389

rs_755866233

7 SubmittersRCV000725066 RCV001153467 RCV001153468 RCV002518848

NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)

SNV
Germline

Chr6:152334229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056356

rs_143851739

4 SubmittersRCV000334591 RCV000725067 RCV001152912 RCV001152911 RCV002518849

NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)

SNV
Germline

Chr6:152133421

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4052723

rs_139834542

12 SubmittersRCV000304397 RCV000363295 RCV000364185 RCV000713653 RCV001080413 RCV004535281

NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)

SNV
Germline

Chr6:152224530

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054148

rs_139078338

7 SubmittersRCV000400431 RCV000647689 RCV001153132 RCV001153131 RCV001087281 RCV004535282

NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)

SNV
Germline

Chr6:152148140

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053051

rs_138407813

5 SubmittersRCV000725092 RCV001088187

NM_182914.3(SYNE2):c.12108+10T>C

SNV
Germline

Chr14:64093490

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221992

rs_184130759

2 SubmittersRCV000328519 RCV001519611

NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=)

SNV
Germline

Chr14:64141947

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223009

rs_145021738

2 SubmittersRCV000282620 RCV001058644

NM_182961.4(SYNE1):c.11412C>T (p.Val3804=)

SNV
Germline

Chr6:152352195

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056698

rs_777170937

2 SubmittersRCV000277161 RCV002519112

NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)

SNV
Germline

Chr6:152450749

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058879

rs_147841761

5 SubmittersRCV000279883 RCV000300725 RCV000372023 RCV000547327

NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)

SNV
Germline

Chr14:64119489

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222282

rs_148708516

3 SubmittersRCV000299153 RCV001078966

NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=)

SNV
Germline

Chr14:64129850

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222676

rs_200893674

3 SubmittersRCV000330988 RCV001111006

NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)

SNV
Germline

Chr14:64000587

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7219988

rs_200437377

7 SubmittersRCV000364942 RCV000537935 RCV000725104 RCV003909933

NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)

SNV
Germline

Chr14:64002763

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7220079

rs_367549881

6 SubmittersRCV000262038 RCV000765178 RCV004021110

NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)

SNV
Germline

Chr14:64216346

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7224463

rs_200937358

4 SubmittersRCV000282881 RCV001078759 RCV003947851

NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)

SNV
Germline

Chr6:152330776

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056103

rs_142388112

6 SubmittersRCV000260305 RCV000263822 RCV000357277 RCV000836067 RCV000546895

NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=)

SNV
Germline

Chr14:64053165

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221239

rs_200061977

3 SubmittersRCV000370880 RCV001083875

NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)

SNV
Germline

Chr6:152472373

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4059409

rs_141397112

4 SubmittersRCV000269267 RCV000799302 RCV004543008

NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)

SNV
Germline

Chr6:152239673

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054541

rs_143118084

6 SubmittersRCV000404318 RCV000725116 RCV001089199

NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)

SNV
Germline

Chr14:64221675

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224740

rs_140897155

5 SubmittersRCV000514270 RCV001079226

NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)

SNV
Germline

Chr6:152122618

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052604

rs_144206837

4 SubmittersRCV000290592 RCV000331373 RCV000314603 RCV000981644 RCV001034647

NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)

SNV
Germline

Chr6:152189294

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4053652

rs_139590550

9 SubmittersRCV000287227 RCV000305616 RCV000395470 RCV000710250 RCV001084381 RCV004535286

NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)

SNV
Germline

Chr6:152387329

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4057588

rs_145195048

6 SubmittersRCV000288135 RCV000389798 RCV000408042 RCV000525996 RCV001085653 RCV004021113

NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=)

SNV
Germline

Chr6:152409649

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058117

rs_767090248

2 SubmittersRCV000360118 RCV002059113

NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)

SNV
Germline

Chr6:152369064

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057232

rs_149901087

9 SubmittersRCV000312113 RCV000370965 RCV000391866 RCV000766628 RCV001085001 RCV004543011

NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)

SNV
Germline

Chr6:152255015

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054697

rs_749079132

2 SubmittersRCV000380297 RCV001504214

NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)

SNV
Germline

Chr14:64214460

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7224375

rs_186839881

4 SubmittersRCV000381179 RCV001088531 RCV003955446

NM_182914.3(SYNE2):c.169C>T (p.Leu57=)

SNV
Germline

Chr14:63941722

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219036

rs_370692798

2 SubmittersRCV000309366 RCV002521890

NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)

SNV
Germline

Chr14:64126740

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222586

rs_148582250

4 SubmittersRCV000303987 RCV000535359

NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)

SNV
Germline

Chr6:152318957

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055551

rs_200812806

8 SubmittersRCV000309098 RCV000363758 RCV000725167 RCV000765874

NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)

SNV
Germline

Chr14:64165396

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7223415

rs_145036293

4 SubmittersRCV000340762 RCV001087227 RCV003920055

NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)

SNV
Germline

Chr14:64152613

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7223165

rs_146573874

4 SubmittersRCV000268682 RCV001087621 RCV003947856

NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)

SNV
Germline

Chr6:152211529

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053848

rs_148240825

7 SubmittersRCV000291534 RCV000324319 RCV000403785 RCV000725172 RCV001084035

NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)

SNV
Germline

Chr14:64158680

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223206

rs_138797058

4 SubmittersRCV000292744 RCV001088812

NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)

SNV
Germline

Chr6:152148304

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053093

rs_201548223

6 SubmittersRCV000311509 RCV000394511 RCV000398198 RCV000647663 RCV000725192

NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)

SNV
Germline

Chr6:152425389

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058338

rs_147508177

7 SubmittersRCV000279711 RCV000334360 RCV000713676 RCV001078720 RCV004543018

NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)

SNV
Germline

Chr6:152219009

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053994

rs_201392317

4 SubmittersRCV000360933 RCV001082965 RCV001153021 RCV001153020

NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)

SNV
Germline

Chr6:152409601

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058108

rs_141671123

9 SubmittersRCV000336864 RCV000391737 RCV000378091 RCV000713680 RCV001085862

NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)

SNV
Germline

Chr6:152301927

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055224

rs_150376715

8 SubmittersRCV000405613 RCV000528735 RCV001200484 RCV003147439

NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)

SNV
Germline

Chr6:152399808

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057926

rs_370016934

6 SubmittersRCV000713685 RCV001151976 RCV001213813 RCV001151975

NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)

SNV
Germline

Chr14:64003111

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7220147

rs_117647282

10 SubmittersRCV000346227 RCV000819795 RCV000725229 RCV003977753

NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)

SNV
Germline

Chr14:64177466

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7223733

rs_201427580

4 SubmittersRCV000302447 RCV000384434

NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)

SNV
Germline

Chr14:64081575

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221782

rs_138514054

6 SubmittersRCV000298630 RCV000725237 RCV001079658

NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)

SNV
Germline

Chr6:152442149

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058711

rs_200276242

5 SubmittersRCV000306134 RCV000541201 RCV001152385 RCV001152386 RCV004535295

NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)

SNV
Germline

Chr14:64051918

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7221049

rs_374946613

5 SubmittersRCV000278739 RCV000700108 RCV004021127

NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=)

SNV
Germline

Chr6:152206285

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053763

rs_140577642

2 SubmittersRCV000311602 RCV001080280

NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)

SNV
Germline

Chr14:64065611

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221492

rs_373646325

4 SubmittersRCV000314737 RCV001088008

NM_182914.3(SYNE2):c.2190A>G (p.Thr730=)

SNV
Germline

Chr14:63986494

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219633

rs_374751877

3 SubmittersRCV000361875 RCV001082447

NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=)

SNV
Germline

Chr6:152354749

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10604462

rs_147021971

2 SubmittersRCV000273630 RCV003765601

NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg)

SNV
Germline

Chr14:64027678

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7220729

rs_551801857

4 SubmittersRCV000300520 RCV000647604 RCV004021136

NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)

SNV
Germline

Chr6:152409087

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058056

rs_141858284

7 SubmittersRCV000291232 RCV000294567 RCV000349602 RCV000533261 RCV001088500 RCV004543024

NM_182961.4(SYNE1):c.18574-8A>C

SNV
Germline

Chr6:152269294

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054920

rs_749921940

2 SubmittersRCV000343816 RCV002059128

NM_182961.4(SYNE1):c.20200-3T>C

SNV
Germline

Chr6:152236306

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054462

rs_770710698

4 SubmittersRCV000304184 RCV001002349 RCV001233590

NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)

SNV
Germline

Chr6:152225750

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054193

rs_777227521

6 SubmittersRCV000363961 RCV000366762 RCV000401188 RCV000725275 RCV001859578

NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)

SNV
Germline

Chr6:152206274

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053754

rs_142117628

7 SubmittersRCV000316401 RCV000354826 RCV000528543 RCV000713637

NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)

SNV
Germline

Chr14:64053228

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7221251

rs_201466326

4 SubmittersRCV000326039 RCV001079812 RCV004021140

NM_182914.3(SYNE2):c.11023-5C>G

SNV
Germline

Chr14:64078461

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221684

rs_112833938

2 SubmittersRCV000382859 RCV001082803

NM_182961.4(SYNE1):c.24642+3A>G

SNV
Germline

Chr6:152149474

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053124

rs_117346210

4 SubmittersRCV000315232 RCV001519397 RCV004543029 RCV003137885

NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)

SNV
Germline

Chr6:152430177

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058480

rs_200424447

7 SubmittersRCV000725306 RCV001088719 RCV003323490 RCV004535303

NM_182914.3(SYNE2):c.18264C>T (p.Asp6088=)

SNV
Germline

Chr14:64208820

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224025

rs_182985921

3 SubmittersRCV000293554 RCV001113291

NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=)

SNV
Germline

Chr14:64158642

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223202

rs_182449286

2 SubmittersRCV000397495 RCV003765610

NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)

SNV
Germline

Chr6:152381042

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057432

rs_146424389

8 SubmittersRCV000297941 RCV000347478 RCV000405155 RCV000725308 RCV001079232 RCV004543030

NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)

SNV
Germline

Chr6:152396873

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057817

rs_139070088

6 SubmittersRCV000319520 RCV000355331 RCV000713688 RCV001086684

NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)

SNV
Germline

Chr6:152433879

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058578

rs_146567226

6 SubmittersRCV000332609 RCV001153573 RCV001156189 RCV002059135

NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)

SNV
Germline

Chr6:152321292

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055592

rs_146705789

5 SubmittersRCV000320908 RCV000357160 RCV000355300 RCV000725309 RCV001078549 RCV004535304

NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)

SNV
Germline

Chr6:152353389

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056767

rs_149260051

10 SubmittersRCV000313045 RCV000349284 RCV000725313 RCV001085761 RCV004543031

NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)

SNV
Germline

Chr6:152352252

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056707

rs_151081036

5 SubmittersRCV000290015 RCV000384304 RCV000725314 RCV001084420

NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)

SNV
Germline

Chr14:64223201

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224783

rs_138789938

5 SubmittersRCV000318970 RCV000397520 RCV004021141

NM_182914.3(SYNE2):c.9745-9A>G

SNV
Germline

Chr14:64055935

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221345

rs_778028287

4 SubmittersRCV000713722 RCV001079585

NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)

SNV
Germline

Chr6:152407089

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Cerebellar ataxia
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058022

rs_185829704

4 SubmittersRCV000269905 RCV000384028 RCV000710259 RCV001512737

NM_182961.4(SYNE1):c.24861C>T (p.His8287=)

SNV
Germline

Chr6:152148160

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053057

rs_202207154

2 SubmittersRCV000320016 RCV001481365

NM_182914.3(SYNE2):c.907A>G (p.Met303Val)

SNV
Germline

Chr14:63963917

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219272

rs_377535370

3 SubmittersRCV000391945 RCV001112208

NM_182914.3(SYNE2):c.3885C>T (p.His1295=)

SNV
Germline

Chr14:64002818

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7220096

rs_570341792

4 SubmittersRCV000308336 RCV001109639 RCV003920069

NM_182914.3(SYNE2):c.14139+5G>A

SNV
Germline

Chr14:64129906

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222683

rs_374778697

4 SubmittersRCV000305817 RCV000698569

NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)

SNV
Germline

Chr14:63976588

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7219360

rs_201176149

5 SubmittersRCV000329476 RCV001089176 RCV004021146

NM_182961.4(SYNE1):c.3480C>T (p.His1160=)

SNV
Germline

Chr6:152449557

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058836

rs_757238055

2 SubmittersRCV000332677 RCV002059145

NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)

SNV
Germline

Chr6:152269181

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054891

rs_201873107

4 SubmittersRCV000290700 RCV001152188 RCV001345456 RCV001152187

NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)

SNV
Germline

Chr6:152148065

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053040

rs_148008634

5 SubmittersRCV000319118 RCV000373820 RCV000725395 RCV001079883

NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)

SNV
Germline

Chr6:152373169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10604733

rs_376622495

3 SubmittersRCV000396322 RCV000725411 RCV002059150

NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)

SNV
Germline

Chr6:152219095

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054011

rs_145494541

6 SubmittersRCV000300395 RCV000340078 RCV000725416 RCV000822036

NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=)

SNV
Germline

Chr14:64208871

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224035

rs_202084149

3 SubmittersRCV000353036 RCV001113292

NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=)

SNV
Germline

Chr6:152330498

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10604797

rs_886042872

2 SubmittersRCV000315229 RCV003765620

NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)

SNV
Germline

Chr6:152326414

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055864

rs_763930147

4 SubmittersRCV000336814 RCV000357153 RCV000402880 RCV001080284

NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)

SNV
Germline

Chr6:152310431

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
Intellectual disability
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055383

rs_145899734

15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV001252119 RCV001331537 RCV001362101 RCV004535321

NM_182914.3(SYNE2):c.15021C>T (p.Ala5007=)

SNV
Germline

Chr14:64141385

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222960

rs_148113884

2 SubmittersRCV000334702 RCV001521600

NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)

SNV
Germline

Chr6:152221470

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy
Cerebellar ataxia
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054101

rs_141170182

5 SubmittersRCV000280474 RCV000333711 RCV000372259 RCV001435374

NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)

SNV
Germline

Chr6:152369518

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057278

rs_749550071

7 SubmittersRCV000306494 RCV000363390 RCV000404807 RCV000535055

NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)

SNV
Germline

Chr6:152463385

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059244

rs_139480065

5 SubmittersRCV000300704 RCV000353418 RCV000393850 RCV000725493 RCV001078762

NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)

SNV
Germline

Chr6:152488405

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4059537

rs_144105769

7 SubmittersRCV000284940 RCV000340947 RCV000339824 RCV000710233 RCV001079942 RCV004543052

NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)

SNV
Germline

Chr6:152331755

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056285

rs_760209358

5 SubmittersRCV000335624 RCV002518946

NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)

SNV
Germline

Chr6:152283992

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055038

rs_200209279

4 SubmittersRCV000725524 RCV001071366 RCV001157766 RCV001157765

NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=)

SNV
Germline

Chr6:152149570

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10604902

rs_755622688

2 SubmittersRCV000341778 RCV001086281

NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)

SNV
Germline

Chr6:152385701

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057503

rs_759736838

3 SubmittersRCV000300708 RCV003765623

NM_182961.4(SYNE1):c.2893-6T>C

SNV
Germline

Chr6:152453726

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10604904

rs_886042945

2 SubmittersRCV000370318 RCV002521926

NM_182961.4(SYNE1):c.24150C>T (p.His8050=)

SNV
Germline

Chr6:152152121

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4053247

rs_140259310

3 SubmittersRCV000401314 RCV001088905 RCV001288480

NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)

SNV
Germline

Chr6:152208179

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4053829

rs_111367233

4 SubmittersRCV000305869 RCV001079063 RCV001288476

NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)

SNV
Germline

Chr6:152213648

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4053882

rs_139466191

4 SubmittersRCV000320855 RCV001084730 RCV002521929

NM_000117.3(EMD):c.525C>T (p.Ser175=)

SNV
Germline

ChrX:154380957

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561628

rs_782367505

6 SubmittersRCV000725575 RCV001082980 RCV001795484 RCV002338845

NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)

SNV
Germline

Chr6:152352177

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056692

rs_137919524

7 SubmittersRCV000333515 RCV000369411 RCV000710235 RCV001088229 RCV004535340

NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)

SNV
Germline

Chr6:152455983

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059076

rs_369192821

5 SubmittersRCV000270132 RCV001156382 RCV001156381 RCV001859612

NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)

SNV
Germline

Chr14:64126682

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7222577

rs_144702281

4 SubmittersRCV000351686 RCV001449201 RCV004021172

NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)

SNV
Germline

Chr6:152401221

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057960

rs_116721144

6 SubmittersRCV000383754 RCV000647677 RCV001697649 RCV002521930 RCV004535342

NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)

SNV
Germline

Chr6:152136702

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052796

rs_776288515

3 SubmittersRCV000371189 RCV001151235 RCV001151234 RCV001483710

NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=)

SNV
Germline

Chr6:152442108

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058692

rs_372832470

2 SubmittersRCV000406350 RCV001088418

NM_000117.3(EMD):c.149C>A (p.Pro50His)

SNV
Germline

ChrX:154379756

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561516

rs_782021157

6 SubmittersRCV000270229 RCV001370198 RCV001828211 RCV004021174

NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)

SNV
Germline

Chr6:152318115

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055498

rs_138745849

6 SubmittersRCV000278107 RCV000279360 RCV000352181 RCV000543262 RCV002519174 RCV001705421 RCV004543060

NM_182961.4(SYNE1):c.10257T>C (p.His3419=)

SNV
Germline

Chr6:152362212

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057020

rs_147631683

4 SubmittersRCV000314573 RCV001394398 RCV004535345

NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)

SNV
Germline

Chr6:152301881

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055213

rs_775771199

2 SubmittersRCV000308599 RCV002059170

NM_182961.4(SYNE1):c.7713-4T>A

SNV
Germline

Chr6:152391572

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057697

rs_571742202

2 SubmittersRCV000260962 RCV002059172

NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)

SNV
Germline

Chr6:152337014

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056406

rs_148935596

4 SubmittersRCV000282438 RCV000295771 RCV000372382 RCV000725624 RCV001859614

NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)

SNV
Germline

Chr6:152330836

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056112

rs_147667464

7 SubmittersRCV000713598 RCV000811161 RCV001158275 RCV001158276

NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)

SNV
Germline

Chr6:152256712

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054785

rs_370053768

8 SubmittersRCV000275164 RCV000725630 RCV000647678 RCV004535346

NM_182961.4(SYNE1):c.13299C>T (p.His4433=)

SNV
Germline

Chr6:152331386

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056202

rs_763090658

3 SubmittersRCV000725638 RCV002059174

NM_182961.4(SYNE1):c.16390-6A>G

SNV
Germline

Chr6:152318269

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10605087

rs_886043083

2 SubmittersRCV000381717 RCV001047211

NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)

SNV
Germline

Chr6:152293626

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055084

rs_200701182

6 SubmittersRCV000702605 RCV000713612 RCV001152288 RCV001152287

NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)

SNV
Germline

Chr6:152442204

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058729

rs_754584363

6 SubmittersRCV000282129 RCV000334724 RCV000389661 RCV000725644 RCV001437162 RCV004535348

NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)

SNV
Germline

Chr6:152140066

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spastic ataxia
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4052865

rs_139679692

6 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260

NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)

SNV
Germline

Chr6:152367257

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057154

rs_759403157

3 SubmittersRCV000279050 RCV001400656

NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)

SNV
Germline

Chr1:156115001

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10605120

rs_886043109

4 SubmittersRCV000380269 RCV000809047 RCV004577329

NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)

SNV
Germline

Chr6:152255596

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054725

rs_150700669

6 SubmittersRCV000346302 RCV000706119 RCV000725671 RCV001153337 RCV001153336

NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)

SNV
Germline

Chr6:152330305

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056015

rs_138307449

4 SubmittersRCV000322036 RCV000374415 RCV000394418 RCV001088647

NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)

SNV
Germline

Chr6:152318956

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055550

rs_144376043

5 SubmittersRCV000308956 RCV000348783 RCV000404876 RCV000725705 RCV001086770

NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)

SNV
Germline

Chr6:152398685

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10605188

rs_886043162

2 SubmittersRCV000377459 RCV001089124

NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr6:152520523

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4059818

rs_143900928

7 SubmittersRCV000263124 RCV000318396 RCV000725713 RCV000647662 RCV002521940

NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)

SNV
Germline

Chr6:152376805

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057402

rs_77221231

4 SubmittersRCV000298281 RCV000308940 RCV000391002 RCV000993204 RCV001859627

NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)

SNV
Germline

Chr6:152330667

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
not specified
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056088

rs_144963785

9 SubmittersRCV000363277 RCV000397441 RCV000556754 RCV000713600 RCV001814977 RCV002518970 RCV004543067

NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)

SNV
Germline

Chr6:152249199

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054655

rs_149272010

7 SubmittersRCV000283633 RCV000320028 RCV000335180 RCV000551091 RCV003430819 RCV004535354

NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)

SNV
Germline

Chr6:152404314

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058000

rs_371609288

3 SubmittersRCV000373434 RCV001157541 RCV001157542 RCV001855156

NM_182961.4(SYNE1):c.24977-5C>T

SNV
Germline

Chr6:152143770

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052985

rs_767722883

3 SubmittersRCV000390645 RCV001151362 RCV001151363 RCV002059181

NM_000117.3(EMD):c.548C>T (p.Pro183Leu)

SNV
Germline

ChrX:154380980

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605214

rs_104894805

3 SubmittersRCV000303060 RCV002519189

NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)

SNV
Germline

Chr6:152409124

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058061

rs_144435836

4 SubmittersRCV000312982 RCV001081234 RCV004543068

NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)

SNV
Germline

Chr6:152409686

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058121

rs_577979265

4 SubmittersRCV000297663 RCV000343170 RCV000379763 RCV001046599

NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=)

SNV
Germline

Chr14:64000613

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219991

rs_749552415

2 SubmittersRCV000368689 RCV002059185

NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)

SNV
Germline

Chr6:152143757

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052981

rs_142690727

4 SubmittersRCV000284262 RCV001089385

NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)

SNV
Germline

Chr6:152330885

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056118

rs_184264920

3 SubmittersRCV000278571 RCV001087111 RCV001158278 RCV001158277

NM_182961.4(SYNE1):c.17542-7G>A

SNV
Germline

Chr6:152300788

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4055194

rs_199762799

9 SubmittersRCV000288486 RCV000381882 RCV000405487 RCV000725731 RCV001085414 RCV001252120

NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)

SNV
Germline

Chr6:152329958

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055956

rs_767294195

3 SubmittersRCV000386158 RCV001078784

NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)

SNV
Germline

Chr6:152359362

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4056968

rs_150637898

7 SubmittersRCV000306417 RCV000347469 RCV000710234 RCV001242547 RCV004021186

NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)

SNV
Germline

Chr6:152354824

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056885

rs_201715967

3 SubmittersRCV000321515 RCV000725764 RCV001084782

NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)

SNV
Germline

Chr6:152401198

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4057956

rs_140986546

4 SubmittersRCV000275232 RCV000311599 RCV000356963 RCV000647690 RCV003422197

NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)

SNV
Germline

Chr14:64017617

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220349

rs_143578863

6 SubmittersRCV000361245 RCV001081871

NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)

SNV
Germline

Chr6:152444513

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058761

rs_758375991

4 SubmittersRCV000319694 RCV001488379

NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)

SNV
Germline

Chr14:64167370

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7223475

rs_138769395

4 SubmittersRCV000374644 RCV000402578 RCV001080395 RCV001288055

NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)

SNV
Germline

Chr6:152234788

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054431

rs_375649094

2 SubmittersRCV000390186 RCV001855168

NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)

SNV
Germline

Chr6:152484895

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059514

rs_569973824

5 SubmittersRCV000265896 RCV001153964 RCV001152691 RCV004535363 RCV002519214

NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)

SNV
Germline

Chr6:152425523

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058353

rs_140005424

5 SubmittersRCV000309940 RCV000346116 RCV000337318 RCV000811570

NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)

SNV
Germline

Chr6:152236214

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054455

rs_142327194

5 SubmittersRCV000315372 RCV000398331 RCV000394502 RCV000725819 RCV002521949

NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)

SNV
Germline

Chr6:152427801

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058399

rs_187410988

4 SubmittersRCV000312860 RCV000367410 RCV000387537 RCV001085330 RCV004543077

NM_000117.3(EMD):c.549T>C (p.Pro183=)

SNV
Germline

ChrX:154380981

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605421

rs_886044848

2 SubmittersRCV000305985 RCV001476279

NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)

SNV
Germline

Chr6:152458898

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4059137

rs_749509412

4 SubmittersRCV000369461 RCV002059196 RCV004543079

NM_000117.3(EMD):c.610C>G (p.Arg204Gly)

SNV
Germline

ChrX:154381042

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

CA10561646

rs_782299893

4 SubmittersRCV000725843 RCV001088437 RCV003492028

NM_182961.4(SYNE1):c.310-459A>G

SNV
Germline

Chr6:152511562

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059781

rs_371580053

2 SubmittersRCV000354917 RCV002055067

NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)

SNV
Germline

Chr6:152236874

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054489

rs_201908045

6 SubmittersRCV000269974 RCV000725848 RCV001088372 RCV001155833 RCV001155834 RCV004543083

NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)

SNV
Germline

Chr6:152331887

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056303

rs_373438870

4 SubmittersRCV000349928 RCV001498820 RCV004535366

NM_182961.4(SYNE1):c.2893-5G>A

SNV
Germline

Chr6:152453725

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058986

rs_370196519

5 SubmittersRCV000713657 RCV001153763 RCV001153762 RCV001434030

NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)

SNV
Germline

Chr6:152249179

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054652

rs_780644969

3 SubmittersRCV000307608 RCV001433724

NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)

SNV
Germline

Chr6:152362320

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057040

rs_369227827

5 SubmittersRCV000331233 RCV000387996 RCV000725862 RCV002059201 RCV004535367

NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=)

SNV
Germline

Chr6:152447470

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058789

rs_756713928

2 SubmittersRCV000370640 RCV002059202

NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)

SNV
Germline

Chr6:152385769

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057515

rs_77853132

5 SubmittersRCV000267519 RCV000297062 RCV000386651 RCV002059206

NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=)

SNV
Germline

Chr14:64142016

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223025

rs_139340468

2 SubmittersRCV000338999 RCV000394002

NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)

SNV
Germline

Chr6:152300683

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055173

rs_144418713

8 SubmittersRCV000291821 RCV001085871 RCV001156185 RCV001156186 RCV004535371

NM_182961.4(SYNE1):c.1617T>C (p.Leu539=)

SNV
Germline

Chr6:152471612

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10605581

rs_886043491

2 SubmittersRCV000377848 RCV003765645

NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)

SNV
Germline

Chr6:152391285

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057657

rs_577888458

5 SubmittersRCV000263756 RCV000312184 RCV000368964 RCV001859654

NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)

SNV
Germline

Chr6:152339337

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4056455

rs_145401144

4 SubmittersRCV000365053 RCV001082681 RCV001660550

NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)

SNV
Germline

Chr6:152396896

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4057819

rs_188146577

9 SubmittersRCV000713687 RCV001157443 RCV001157444 RCV001824722 RCV002519270 RCV004021213

NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=)

SNV
Germline

Chr6:152256652

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054779

rs_749565347

2 SubmittersRCV000312853 RCV002519286

NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)

SNV
Germline

Chr6:152230593

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4054245

rs_143639400

9 SubmittersRCV000263123 RCV000355493 RCV000647627 RCV000713627 RCV003987493 RCV004021230

NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser)

SNV
Germline

Chr14:64218491

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224525

rs_199577239

3 SubmittersRCV000263614 RCV000343094

NM_182961.4(SYNE1):c.1497C>T (p.His499=)

SNV
Germline

Chr6:152471732

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA10605922

rs_758555741

3 SubmittersRCV000297064 RCV002059230

NM_182961.4(SYNE1):c.11253+9G>A

SNV
Germline

Chr6:152353254

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4056742

rs_368012172

5 SubmittersRCV000713582 RCV001154404 RCV001154405 RCV001491377 RCV004535405 RCV001706420

NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)

SNV
Germline

Chr6:152353428

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056773

rs_375949615

3 SubmittersRCV000408290 RCV001217207

NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)

SNV
Germline

Chr6:152330233

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056002

rs_142422990

7 SubmittersRCV000264553 RCV000312820 RCV000360305 RCV001087844 RCV002254920

NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)

SNV
Germline

Chr6:152350757

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4056643

rs_202173395

7 SubmittersRCV000713586 RCV001225762 RCV002518033

NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)

SNV
Germline

Chr6:152354785

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056871

rs_114858512

3 SubmittersRCV000332328 RCV001082072

NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)

SNV
Germline

Chr6:152430168

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4058479

rs_199769508

8 SubmittersRCV000397637 RCV000778782 RCV000792483 RCV001157767 RCV003488502

NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)

SNV
Germline

Chr6:152208013

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4053801

rs_146320179

7 SubmittersRCV000322949 RCV000379988 RCV000823678 RCV000726157 RCV004535411

NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)

SNV
Germline

Chr6:152334217

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056352

rs_149536991

5 SubmittersRCV000387683 RCV001088928

NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)

SNV
Germline

Chr6:152376444

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057360

rs_199554198

3 SubmittersRCV000278702 RCV000298284 RCV000317415 RCV001089078

NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)

SNV
Germline

Chr6:152236947

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054497

rs_143674856

5 SubmittersRCV000353115 RCV002518045

NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)

SNV
Germline

Chr6:152242403

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4054580

rs_150387338

8 SubmittersRCV000538332 RCV000713622 RCV001157537 RCV001157538 RCV001706422

NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)

SNV
Germline

Chr6:152385752

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057511

rs_139079964

2 SubmittersRCV000328809 RCV002518046

NM_182961.4(SYNE1):c.25120-6A>G

SNV
Germline

Chr6:152141335

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052923

rs_201898019

6 SubmittersRCV000340886 RCV000396515 RCV000726193 RCV001087169

NM_182961.4(SYNE1):c.15657+5T>A

SNV
Germline

Chr6:152325079

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055730

rs_199779021

7 SubmittersRCV000344854 RCV000405072 RCV000726194 RCV001088655

NM_182961.4(SYNE1):c.12225+4G>A

SNV
Germline

Chr6:152344077

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056473

rs_770448083

4 SubmittersRCV000293168 RCV000352851 RCV000366649 RCV002518048

NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)

SNV
Germline

Chr6:152136762

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4052804

rs_144459490

2 SubmittersRCV000298557 RCV001472774

NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala)

SNV
Germline

Chr6:152234780

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054430

rs_753654674

5 SubmittersRCV000332553 RCV000726204 RCV001153234 RCV001153235

NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)

SNV
Germline

Chr6:152318974

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055556

rs_779112403

3 SubmittersRCV000370330 RCV000726211 RCV001458659

NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)

SNV
Germline

Chr6:152396898

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057820

rs_149030452

6 SubmittersRCV000263062 RCV000871135 RCV001705430 RCV004543119

NM_182961.4(SYNE1):c.180T>G (p.Gly60=)

SNV
Germline

Chr6:152526125

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10606208

rs_761395846

3 SubmittersRCV000329289 RCV002521998

NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)

SNV
Germline

Chr6:152352066

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4056671

rs_74463786

6 SubmittersRCV000311276 RCV000557316 RCV001156801 RCV001156802 RCV001697651 RCV002518058

NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)

SNV
Germline

Chr6:152189293

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4053651

rs_150550013

9 SubmittersRCV000322222 RCV000541902 RCV001157123 RCV001157122 RCV004529476 RCV002518059

NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=)

SNV
Germline

Chr6:152211526

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053846

rs_779555194

2 SubmittersRCV000271731 RCV003765661

NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)

SNV
Germline

Chr6:152269198

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054896

rs_150335599

5 SubmittersRCV000270647 RCV000317960 RCV000373083 RCV000726255 RCV001435359

NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=)

SNV
Germline

Chr6:152336976

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056401

rs_375707429

2 SubmittersRCV000395402 RCV001088653

NM_182961.4(SYNE1):c.2440T>C (p.Leu814=)

SNV
Germline

Chr6:152458885

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059136

rs_368201364

2 SubmittersRCV000312659 RCV002518069

NM_182961.4(SYNE1):c.2286A>G (p.Gln762=)

SNV
Germline

Chr6:152461705

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059170

rs_375103550

2 SubmittersRCV000277380 RCV002518070

NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)

SNV
Germline

Chr6:152284095

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055055

rs_146238726

4 SubmittersRCV000304489 RCV000372511 RCV000405176 RCV001464844

NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)

SNV
Germline

Chr6:152262134

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054826

rs_138173087

5 SubmittersRCV000316766 RCV000726341 RCV001084034 RCV001157651 RCV001157650

NM_182961.4(SYNE1):c.23791-7C>T

SNV
Germline

Chr6:152156104

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Intellectual disability
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053349

rs_375558499

4 SubmittersRCV000276740 RCV000726342 RCV001252116 RCV001439883

NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=)

SNV
Germline

Chr6:152254985

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10606486

rs_886044212

2 SubmittersRCV000364901 RCV002059267

NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)

SNV
Germline

Chr6:152206209

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053741

rs_202017153

6 SubmittersRCV000391043 RCV001151676 RCV001265812 RCV001318993 RCV001151675

NM_182961.4(SYNE1):c.9903C>T (p.His3301=)

SNV
Germline

Chr6:152367287

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057161

rs_767709050

2 SubmittersRCV000370603 RCV002059268

NM_182961.4(SYNE1):c.5421+9G>T

SNV
Germline

Chr6:152419560

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058300

rs_376218204

5 SubmittersRCV000282736 RCV000319598 RCV000374221 RCV000726354 RCV001080873

NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)

SNV
Germline

Chr6:152428279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10606505

rs_886044228

2 SubmittersRCV000281266 RCV003765670

NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)

SNV
Germline

Chr6:152331463

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056222

rs_368709678

4 SubmittersRCV000268983 RCV000326604 RCV000406474 RCV001306713

NM_182961.4(SYNE1):c.24660C>T (p.His8220=)

SNV
Germline

Chr6:152148361

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053103

rs_150811468

5 SubmittersRCV000276082 RCV000352358 RCV000399091 RCV000726359 RCV001087222

NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)

SNV
Germline

Chr6:152354799

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056875

rs_143034104

6 SubmittersRCV000261699 RCV000266205 RCV000321203 RCV000647618 RCV004543132

NM_000117.3(EMD):c.460A>G (p.Met154Val)

SNV
Germline

ChrX:154380892

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561621

rs_782806462

4 SubmittersRCV000347322 RCV002494887 RCV002338859

NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)

SNV
Germline

Chr14:64053343

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10606537

rs_886044254

3 SubmittersRCV000382773 RCV001227453

NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)

SNV
Germline

Chr6:152369592

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057292

rs_149005052

6 SubmittersRCV000272056 RCV001087141 RCV004021289 RCV004537601

NM_182914.3(SYNE2):c.16894A>G (p.Lys5632Glu)

SNV
Germline

Chr14:64167628

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223523

rs_375876618

2 SubmittersRCV000335441 RCV001424272

NM_182961.4(SYNE1):c.1730-7G>A

SNV
Germline

Chr6:152465467

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059309

rs_367603152

4 SubmittersRCV000385098 RCV001289273 RCV001517379

NM_182961.4(SYNE1):c.14955+8T>C

SNV
Germline

Chr6:152329722

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055910

rs_563400584

2 SubmittersRCV000328246 RCV003765676

NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=)

SNV
Germline

Chr6:152329877

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA10606647

rs_886044346

2 SubmittersRCV000339016 RCV001460903

NM_000117.3(EMD):c.466G>C (p.Gly156Arg)

SNV
Germline

ChrX:154380898

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561623

rs_144594695

6 SubmittersRCV000695175 RCV000396796 RCV000726441 RCV003298348

NM_182961.4(SYNE1):c.2487C>T (p.Asp829=)

SNV
Germline

Chr6:152458838

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059125

rs_753367709

2 SubmittersRCV000404584 RCV001078724

NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)

SNV
Germline

Chr6:152369124

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057251

rs_140927945

6 SubmittersRCV000713696 RCV001079193 RCV004537607

NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)

SNV
Germline

Chr6:152385758

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057512

rs_143105336

2 SubmittersRCV000389879 RCV001399817

NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)

SNV
Germline

Chr6:152358532

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056946

rs_759403120

2 SubmittersRCV000381782 RCV003765679

NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=)

SNV
Germline

Chr6:152225787

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054201

rs_768886911

2 SubmittersRCV000378180 RCV002519338

NM_000117.3(EMD):c.512C>A (p.Ser171Ter)

SNV
Germline

ChrX:154380944

Pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606711

rs_886044901

3 SubmittersRCV000498046 RCV002518125

NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=)

SNV
Germline

Chr6:152325252

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055768

rs_750155092

3 SubmittersRCV000286914 RCV000726456 RCV002519339

NM_182961.4(SYNE1):c.12099C>T (p.His4033=)

SNV
Germline

Chr6:152344207

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056507

rs_375862387

3 SubmittersRCV000305982 RCV000339248 RCV000397685 RCV002059286

NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)

SNV
Germline

Chr6:152145551

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053027

rs_377088951

6 SubmittersRCV000726473 RCV001154403 RCV001154402 RCV001430018

NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=)

SNV
Germline

Chr6:152149501

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053137

rs_373486168

2 SubmittersRCV000407105 RCV002059290

NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)

SNV
Germline

Chr6:152236857

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054484

rs_367790193

6 SubmittersRCV000361906 RCV000792010 RCV001155832 RCV001155831

NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)

SNV
Germline

Chr6:152455590

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4059036

rs_141214076

4 SubmittersRCV000287860 RCV001067771 RCV001660557

NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)

SNV
Germline

Chr6:152239628

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054535

rs_376891338

6 SubmittersRCV000276438 RCV001155835 RCV001155836 RCV001859719

NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)

SNV
Germline

Chr6:152268082

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Condition: not provided
Cerebellar ataxia
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054854

rs_150905950

5 SubmittersRCV000306585 RCV000322273 RCV000361320 RCV000647708

NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)

SNV
Germline

Chr6:152318100

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055495

rs_150604289

4 SubmittersRCV000263921 RCV000702090

NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)

SNV
Germline

Chr6:152219123

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054017

rs_371017408

6 SubmittersRCV000304956 RCV000321526 RCV000398095 RCV001084844 RCV001660558 RCV004543141

NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)

SNV
Germline

Chr6:152398661

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057852

rs_144910464

3 SubmittersRCV000260485 RCV000315614 RCV000385810 RCV001438496

NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=)

SNV
Germline

Chr6:152249206

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054656

rs_377427003

2 SubmittersRCV000305819 RCV003765685

NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)

SNV
Germline

Chr6:152428357

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058442

rs_369587906

2 SubmittersRCV000330912 RCV001079036

NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=)

SNV
Germline

Chr6:152224551

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054153

rs_781552217

2 SubmittersRCV000315620 RCV002059297

NM_000117.3(EMD):c.12C>T (p.Tyr4=)

SNV
Germline

ChrX:154379496

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
EMD-related disorder

Criteria Provided
Conflicting Classifications

CA10561493

rs_782011714

7 SubmittersRCV000726522 RCV001085328 RCV001833411 RCV002379153 RCV003150155 RCV003949950

NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)

SNV
Germline

Chr6:152148220

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053068

rs_754900484

2 SubmittersRCV000317464 RCV002518143

NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)

SNV
Germline

Chr6:152133294

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052707

rs_781435849

2 SubmittersRCV000347349 RCV001421535

NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)

SNV
Germline

Chr6:152309897

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055335

rs_202171698

4 SubmittersRCV000271813 RCV000366354 RCV000396416 RCV002519345

NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)

SNV
Germline

Chr6:152331476

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056224

rs_773593843

3 SubmittersRCV000311235 RCV002519347

NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)

SNV
Germline

Chr6:152326019

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055809

rs_773536890

5 SubmittersRCV000272900 RCV000383652 RCV000726569 RCV001850477

NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)

SNV
Germline

Chr6:152206277

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053756

rs_201497427

4 SubmittersRCV000262353 RCV000319442 RCV000713636 RCV001506217

NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)

SNV
Germline

Chr1:156115213

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Limb-girdle muscular dystrophy, recessive
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Hutchinson-Gilford syndrome
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10607825

rs_886045364

5 SubmittersRCV000274541 RCV000281871 RCV000294652 RCV000301985 RCV000337024 RCV000335629 RCV000329877 RCV000342879 RCV000371803 RCV000389042 RCV000497577 RCV001096351 RCV003231436

NM_170707.4(LMNA):c.936+12C>T

SNV
Germline

Chr1:156135324

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
Familial partial lipodystrophy
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Limb-girdle muscular dystrophy, recessive
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia
Congenital muscular dystrophy due to LMNA mutation
not specified
Charcot-Marie-Tooth disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA054697

rs_199881992

5 SubmittersRCV000262176 RCV000274234 RCV000277642 RCV000307693 RCV000313011 RCV000316315 RCV000342630 RCV000370046 RCV000373251 RCV000408245 RCV000611471 RCV001172628 RCV003165785

NM_170707.4(LMNA):c.1488G>A (p.Thr496=)

SNV
Germline

Chr1:156137028

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy 1A
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Charcot-Marie-Tooth disease type 2
Limb-girdle muscular dystrophy, recessive
Congenital muscular dystrophy due to LMNA mutation
not specified
Condition: not provided
Cardiomyopathy
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA050383

rs_375516745

8 SubmittersRCV000272434 RCV000279873 RCV000283389 RCV000295329 RCV000329882 RCV000337310 RCV000341138 RCV000364565 RCV000387328 RCV000399235 RCV000424743 RCV000733840 RCV000769730 RCV001093869 RCV001097147 RCV002392823 RCV003995796

NM_170707.4(LMNA):c.514-11C>T

SNV
Germline

Chr1:156134392

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Hutchinson-Gilford syndrome
Dilated cardiomyopathy 1A
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Limb-girdle muscular dystrophy, recessive
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA10608308

rs_886045365

3 SubmittersRCV000259634 RCV000271579 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000366122 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154

NM_170707.4(LMNA):c.1698+57G>A

SNV
Germline

Chr1:156137800

Conflicting classifications of pathogenicity

Familial partial lipodystrophy, Dunnigan type
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Limb-girdle muscular dystrophy, recessive
Lethal tight skin contracture syndrome
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Mandibuloacral dysplasia with type A lipodystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

CA051003

rs_557334569

1 SubmittersRCV000263913 RCV000267234 RCV000278097 RCV000293451 RCV000318957 RCV000322274 RCV000333140 RCV000358640 RCV000361986 RCV000373664 RCV001099085

NM_170707.4(LMNA):c.294G>A (p.Glu98=)

SNV
Germline

Chr1:156115212

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Hutchinson-Gilford syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Familial partial lipodystrophy, Dunnigan type
Emery-Dreifuss muscular dystrophy
Lethal tight skin contracture syndrome
Dilated cardiomyopathy 1A
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10608333

rs_886045363

4 SubmittersRCV000268830 RCV000268358 RCV000297999 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV000407235 RCV001718593 RCV001101770 RCV003231435

NM_182961.4(SYNE1):c.23791-13C>T

SNV
Germline

Chr6:152156110

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4053352

rs_371245873

4 SubmittersRCV000273138 RCV000362832 RCV000840114 RCV002058562 RCV004544667

NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)

SNV
Germline

Chr6:152232248

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4054337

rs_367864272

3 SubmittersRCV000289395 RCV000381264 RCV000558709 RCV000732780

NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)

SNV
Germline

Chr6:152256724

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054788

rs_762720357

2 SubmittersRCV000334938 RCV000404424 RCV003766046

NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)

SNV
Germline

Chr6:152269245

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054910

rs_552884641

2 SubmittersRCV000259637 RCV000333668 RCV002523556

NM_182961.4(SYNE1):c.18574-13T>C

SNV
Germline

Chr6:152269299

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054922

rs_148664724

3 SubmittersRCV000293640 RCV000388127 RCV001718766 RCV002058565

NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)

SNV
Germline

Chr6:152310401

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055374

rs_780794124

3 SubmittersRCV000326922 RCV000361265 RCV000691761 RCV003137972

NM_182961.4(SYNE1):c.16237-10A>T

SNV
Germline

Chr6:152319025

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055565

rs_201078255

3 SubmittersRCV000265828 RCV000360528 RCV001662332 RCV002058566

NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)

SNV
Germline

Chr6:152331268

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Conflicting Classifications

CA4056181

rs_554814659

3 SubmittersRCV000275716 RCV000314518 RCV003137974 RCV004579543

NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)

SNV
Germline

Chr6:152367299

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4057166

rs_200222988

3 SubmittersRCV000270454 RCV000363178 RCV000946181 RCV004525922

NM_182961.4(SYNE1):c.8571T>C (p.His2857=)

SNV
Germline

Chr6:152385755

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA10621700

rs_886061207

2 SubmittersRCV000302787 RCV000359849 RCV002524471

NM_182961.4(SYNE1):c.7238-11T>C

SNV
Germline

Chr6:152398742

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057866

rs_200802315

3 SubmittersRCV000321551 RCV000376327 RCV001705522 RCV002058571

NM_182961.4(SYNE1):c.7029+15A>G

SNV
Germline

Chr6:152401123

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057943

rs_757201043

2 SubmittersRCV000351299 RCV000392504 RCV002524472

NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)

SNV
Germline

Chr6:152416416

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058187

rs_533039765

3 SubmittersRCV000272879 RCV000358215 RCV000647699 RCV004544676

NM_182961.4(SYNE1):c.4008+15T>C

SNV
Germline

Chr6:152442060

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058679

rs_368542446

4 SubmittersRCV000271625 RCV000359407 RCV001718767 RCV002058572 RCV004530437

NM_182961.4(SYNE1):c.-49C>T

SNV
Germline

Chr6:152628380

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA4059937

rs_373654060

2 SubmittersRCV000289137 RCV000344078 RCV000444333

NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)

SNV
Germline

Chr6:152143686

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4052966

rs_200678102

3 SubmittersRCV000366512 RCV000401986 RCV001393633 RCV003430922

NM_182961.4(SYNE1):c.23978+11A>T

SNV
Germline

Chr6:152155899

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053306

rs_754355745

2 SubmittersRCV000302383 RCV000361532 RCV002058561

NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)

SNV
Germline

Chr6:152231401

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4054275

rs_141275966

8 SubmittersRCV000320662 RCV000377947 RCV000693288 RCV000734242 RCV002523554 RCV004544668

NM_182961.4(SYNE1):c.19656C>T (p.Val6552=)

SNV
Germline

Chr6:152244573

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054620

rs_773211579

1 SubmittersRCV000323661 RCV000378140

NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)

SNV
Germline

Chr6:152284094

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055054

rs_142229551

7 SubmittersRCV000290216 RCV000344274 RCV000698873 RCV000734241 RCV004544670

NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)

SNV
Germline

Chr6:152301898

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055216

rs_752135269

3 SubmittersRCV000343440 RCV000379492 RCV002523557 RCV003137971

NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=)

SNV
Germline

Chr6:152325200

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055753

rs_774649954

2 SubmittersRCV000261407 RCV000354009 RCV003430923

NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)

SNV
Germline

Chr6:152330961

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056131

rs_199701902

4 SubmittersRCV000347777 RCV000517050 RCV000407531 RCV000766931 RCV001086972

NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)

SNV
Germline

Chr6:152334187

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056347

rs_138650597

4 SubmittersRCV000299593 RCV000729091 RCV000406032 RCV001400115

NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)

SNV
Germline

Chr6:152354800

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056877

rs_377049622

2 SubmittersRCV000267292 RCV000380501 RCV002058568

NM_182961.4(SYNE1):c.8005-3C>T

SNV
Germline

Chr6:152390455

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057634

rs_117084693

3 SubmittersRCV000298941 RCV000356140 RCV000506477 RCV001418792

NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)

SNV
Germline

Chr6:152399678

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057897

rs_199558070

2 SubmittersRCV000291231 RCV000345634 RCV000820342

NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)

SNV
Germline

Chr6:152433878

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058577

rs_376463379

6 SubmittersRCV000300524 RCV000523709 RCV000392428 RCV001244241

NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)

SNV
Germline

Chr6:152442147

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058710

rs_200763530

4 SubmittersRCV000292473 RCV000389291 RCV000418802 RCV001069971 RCV004530439

NM_182961.4(SYNE1):c.309+14A>G

SNV
Germline

Chr6:152520445

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059809

rs_368595280

2 SubmittersRCV000298423 RCV000353192 RCV002058576

NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln)

SNV
Germline

Chr6:152539997

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4059883

rs_747634832

2 SubmittersRCV000324318 RCV000378389 RCV003137978

NM_182961.4(SYNE1):c.-223-10T>C

SNV
Germline

Chr6:152628564

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA10623350

rs_564226533

1 SubmittersRCV000290160 RCV000384594

NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)

SNV
Germline

Chr6:152141315

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA10626131

rs_576598951

2 SubmittersRCV000281226 RCV000375704 RCV002058560

NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)

SNV
Germline

Chr6:152180261

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053620

rs_200800604

2 SubmittersRCV000316744 RCV000373737 RCV002520409

NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met)

SNV
Germline

Chr6:152201923

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053705

rs_772452257

1 SubmittersRCV000312882 RCV000401122

NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)

SNV
Germline

Chr6:152215017

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053926

rs_200135486

4 SubmittersRCV000271741 RCV000382657 RCV000993153 RCV001477686

NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)

SNV
Germline

Chr6:152219031

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4053997

rs_146907132

6 SubmittersRCV000279072 RCV000389735 RCV001573541 RCV001861271 RCV002523552

NM_182961.4(SYNE1):c.19693-15G>A

SNV
Germline

Chr6:152242455

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054592

rs_187885923

3 SubmittersRCV000272208 RCV000327145 RCV000431826 RCV002058564

NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)

SNV
Germline

Chr6:152256739

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054790

rs_141934037

6 SubmittersRCV000295099 RCV000350227 RCV000993146 RCV000647660

NM_182961.4(SYNE1):c.17683-11T>C

SNV
Germline

Chr6:152294138

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055147

rs_759219567

1 SubmittersRCV000272296 RCV000327258

NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)

SNV
Germline

Chr6:152310753

Conflicting classifications of pathogenicity

Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055423

rs_369292604

8 SubmittersRCV000785033 RCV000785031 RCV000713609 RCV000785032 RCV002520410 RCV001850885

NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)

SNV
Germline

Chr6:152321364

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055607

rs_138277154

6 SubmittersRCV000275947 RCV000372270 RCV000521314 RCV001087375 RCV001289269 RCV004544672

NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)

SNV
Germline

Chr6:152330015

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055967

rs_150266354

2 SubmittersRCV000308876 RCV000366132 RCV001247306

NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)

SNV
Germline

Chr6:152330155

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055990

rs_747838657

3 SubmittersRCV000269205 RCV000326527 RCV001288819 RCV001211385

NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)

SNV
Germline

Chr6:152330763

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056099

rs_199673397

3 SubmittersRCV000266106 RCV000318822 RCV001063785 RCV003480619

NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)

SNV
Germline

Chr6:152330833

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056111

rs_147125369

4 SubmittersRCV000296749 RCV000330224 RCV000733260 RCV001211255

NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)

SNV
Germline

Chr6:152331131

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056159

rs_115535983

6 SubmittersRCV000355459 RCV000396144 RCV000437216 RCV000726493 RCV002523558 RCV004544673

NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)

SNV
Germline

Chr6:152398666

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4057856

rs_370082646

3 SubmittersRCV000285294 RCV000379589 RCV001217418 RCV003441849

NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)

SNV
Germline

Chr6:152449537

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058828

rs_555800735

3 SubmittersRCV000272555 RCV000306567 RCV000438202 RCV001315404

NM_182961.4(SYNE1):c.1305C>T (p.His435=)

SNV
Germline

Chr6:152483130

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059464

rs_539575253

2 SubmittersRCV000336072 RCV000390298 RCV002058574

NM_182961.4(SYNE1):c.*191A>G

SNV
Germline

Chr6:152122245

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626320

rs_567194577

2 SubmittersRCV000314414 RCV000352747 RCV003430921

NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=)

SNV
Germline

Chr6:152132212

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052690

rs_746159592

1 SubmittersRCV000303224 RCV000390219

NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)

SNV
Germline

Chr6:152152109

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053243

rs_185088779

2 SubmittersRCV000294900 RCV000335742 RCV000878879

NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)

SNV
Germline

Chr6:152155030

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053281

rs_572195368

2 SubmittersRCV000337353 RCV000397990 RCV001474683

NM_182961.4(SYNE1):c.21195+12A>G

SNV
Germline

Chr6:152230535

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054236

rs_200930593

2 SubmittersRCV000313779 RCV000370665 RCV002058563

NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)

SNV
Germline

Chr6:152284132

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055063

rs_774683772

2 SubmittersRCV000340722 RCV000395709 RCV003482251

NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)

SNV
Germline

Chr6:152321779

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055628

rs_202105931

3 SubmittersRCV000333322 RCV000385473 RCV001861272 RCV003137973

NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)

SNV
Germline

Chr6:152326391

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055863

rs_370314344

2 SubmittersRCV000284051 RCV000376276 RCV002520411

NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)

SNV
Germline

Chr6:152331264

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056178

rs_771898973

6 SubmittersRCV000297082 RCV000354118 RCV000522411 RCV002524470 RCV002523559

NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)

SNV
Germline

Chr6:152347081

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056523

rs_756840607

4 SubmittersRCV000332061 RCV000382243 RCV000733867 RCV001364560

NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)

SNV
Germline

Chr6:152367230

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057150

rs_747731841

2 SubmittersRCV000354239 RCV000405441 RCV000553973

NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)

SNV
Germline

Chr6:152367293

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057163

rs_184006845

3 SubmittersRCV000276679 RCV000334172 RCV000517904 RCV001461224

NM_182961.4(SYNE1):c.9807+5C>T

SNV
Germline

Chr6:152368967

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057207

rs_185350092

4 SubmittersRCV000287200 RCV000379408 RCV000597897 RCV001426046

NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)

SNV
Germline

Chr6:152387220

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4057568

rs_757960938

3 SubmittersRCV000319308 RCV000386205 RCV001850886 RCV002472995

NM_182961.4(SYNE1):c.7713-11C>T

SNV
Germline

Chr6:152391579

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057699

rs_201131946

3 SubmittersRCV000286986 RCV000341950 RCV000602332 RCV003766047

NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)

SNV
Germline

Chr6:152401259

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4057964

rs_190867604

5 SubmittersRCV000268569 RCV000353917 RCV000558138 RCV000598418

NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)

SNV
Germline

Chr6:152428273

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058430

rs_771955377

2 SubmittersRCV000263340 RCV000318617 RCV001416134

NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)

SNV
Germline

Chr6:152442131

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058706

rs_201144728

4 SubmittersRCV000289316 RCV000332375 RCV000429081 RCV001069972 RCV004530438

NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)

SNV
Germline

Chr6:152483173

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4059475

rs_150409035

3 SubmittersRCV000309449 RCV000393945 RCV001322802 RCV003233627

NM_182961.4(SYNE1):c.582-9A>G

SNV
Germline

Chr6:152505406

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059674

rs_200412221

4 SubmittersRCV000285902 RCV000380411 RCV000597589 RCV001289278 RCV001089155

NM_182961.4(SYNE1):c.310-468G>A

SNV
Germline

Chr6:152511571

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059784

rs_143635963

5 SubmittersRCV000276063 RCV000370954 RCV000998727 RCV000557607

NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)

SNV
Germline

Chr14:63986574

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7219646

rs_200319405

4 SubmittersRCV000706228 RCV001660635

NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)

SNV
Germline

Chr14:64017619

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7220350

rs_146801942

7 SubmittersRCV000539755 RCV001288496

NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)

SNV
Germline

Chr14:64070708

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221535

rs_752900825

3 SubmittersRCV000337037

NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu)

SNV
Germline

Chr14:64098810

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7222098

rs_370255444

5 SubmittersRCV000372793 RCV000695032 RCV001723898 RCV004021589

NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)

SNV
Germline

Chr14:64119528

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222289

rs_762957203

2 SubmittersRCV000263237

NM_182914.3(SYNE2):c.13917+10C>T

SNV
Germline

Chr14:64126817

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222603

rs_760288753

2 SubmittersRCV000301079

NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)

SNV
Germline

Chr14:64212912

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224272

rs_757232346

2 SubmittersRCV000647568

NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)

SNV
Germline

Chr14:64212983

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7224285

rs_141882853

5 SubmittersRCV001052175 RCV001660639 RCV004021597

NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)

SNV
Germline

Chr14:64214273

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224329

rs_150629598

4 SubmittersRCV000271387 RCV000518669

NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His)

SNV
Germline

Chr14:64216286

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224448

rs_202052357

2 SubmittersRCV000799529

NM_182914.3(SYNE2):c.20536C>T (p.Pro6846Ser)

SNV
Germline

Chr14:64225338

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224941

rs_147848144

3 SubmittersRCV000647565 RCV004021601

NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn)

SNV
Germline

Chr14:64225504

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7224998

rs_760936547

4 SubmittersRCV000401937 RCV003456393 RCV004021602

NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)

SNV
Germline

Chr14:63942088

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7219088

rs_199860789

4 SubmittersRCV001046788 RCV004021584

NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)

SNV
Germline

Chr14:63949834

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7219109

rs_761503203

3 SubmittersRCV000344743 RCV004021585

NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)

SNV
Germline

Chr14:63986498

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7219634

rs_758897129

3 SubmittersRCV000383389 RCV000993222

NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)

SNV
Germline

Chr14:63997108

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10640444

rs_886050580

2 SubmittersRCV000312549

NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)

SNV
Germline

Chr14:64027743

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7220740

rs_201838350

4 SubmittersRCV000361301 RCV001288497 RCV004021587

NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)

SNV
Germline

Chr14:64121059

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7222351

rs_140277551

4 SubmittersRCV000816965 RCV002275010

NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu)

SNV
Germline

Chr14:64129833

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7222674

rs_143798878

3 SubmittersRCV000304989 RCV004021593

NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr)

SNV
Germline

Chr14:64163480

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223360

rs_775169295

2 SubmittersRCV000357026

NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr)

SNV
Germline

Chr14:64177371

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223712

rs_143784708

2 SubmittersRCV000354266

NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)

SNV
Germline

Chr14:64209996

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224143

rs_375497206

3 SubmittersRCV000340536

NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser)

SNV
Germline

Chr14:64214225

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7224321

rs_199566869

3 SubmittersRCV000306359 RCV000767326

NM_182914.3(SYNE2):c.20423C>T (p.Ser6808Leu)

SNV
Germline

Chr14:64224501

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7224861

rs_372922867

4 SubmittersRCV001057188 RCV004021598 RCV003417990

NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg)

SNV
Germline

Chr14:64225326

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224935

rs_201538331

3 SubmittersRCV001065859 RCV004021600

NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr)

SNV
Germline

Chr14:63977929

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219408

rs_761844853

2 SubmittersRCV000543727

NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)

SNV
Germline

Chr14:64024964

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220583

rs_80046702

3 SubmittersRCV000535757

NM_182914.3(SYNE2):c.6880-4G>A

SNV
Germline

Chr14:64031012

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220816

rs_776756586

2 SubmittersRCV000389167

NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp)

SNV
Germline

Chr14:64052604

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221146

rs_758754933

2 SubmittersRCV000814351

NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)

SNV
Germline

Chr14:64052674

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221157

rs_182683822

3 SubmittersRCV000873545

NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)

SNV
Germline

Chr14:64052904

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221199

rs_773209564

2 SubmittersRCV000351752

NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg)

SNV
Germline

Chr14:64053317

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221263

rs_376121197

3 SubmittersRCV001061448

NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln)

SNV
Germline

Chr14:64053613

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221315

rs_372597797

2 SubmittersRCV000690437

NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu)

SNV
Germline

Chr14:64097991

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222029

rs_149546014

2 SubmittersRCV000330788

NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile)

SNV
Germline

Chr14:64130111

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222716

rs_538224852

2 SubmittersRCV000365286

NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg)

SNV
Germline

Chr14:64162104

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223284

rs_753646712

2 SubmittersRCV000345968

NM_182914.3(SYNE2):c.16605+10A>G

SNV
Germline

Chr14:64165420

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223420

rs_761193543

2 SubmittersRCV000537838

NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)

SNV
Germline

Chr14:64188669

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10644473

rs_886050596

2 SubmittersRCV000308142

NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)

SNV
Germline

Chr14:64202952

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7223961

rs_182079744

5 SubmittersRCV000528583 RCV000993217

NM_182914.3(SYNE2):c.19194C>T (p.Ala6398=)

SNV
Germline

Chr14:64214331

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7224340

rs_144599409

3 SubmittersRCV000367077 RCV000416162

NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)

SNV
Germline

Chr14:63990946

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219714

rs_372150492

3 SubmittersRCV000794724

NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)

SNV
Germline

Chr14:64027590

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7220715

rs_199743242

4 SubmittersRCV000706229 RCV001660636

NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp)

SNV
Germline

Chr14:64051916

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7221047

rs_143558316

3 SubmittersRCV000535160 RCV004021588

NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)

SNV
Germline

Chr14:64107570

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified
SYNE2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7222193

rs_145227848

8 SubmittersRCV000552488 RCV004021590 RCV003940219 RCV003391129

NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)

SNV
Germline

Chr14:64113345

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7222222

rs_376207235

5 SubmittersRCV000699066 RCV001288052 RCV004021591

NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His)

SNV
Germline

Chr14:64125182

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222473

rs_200946949

2 SubmittersRCV000538494

NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys)

SNV
Germline

Chr14:64126342

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7222498

rs_143646847

4 SubmittersRCV000548718 RCV003389793 RCV004021592

NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)

SNV
Germline

Chr14:64141344

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7222952

rs_747348017

4 SubmittersRCV000551849 RCV004021595

NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met)

SNV
Germline

Chr14:64158697

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223208

rs_181059522

2 SubmittersRCV000793716

NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=)

SNV
Germline

Chr14:64162171

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7223300

rs_764264884

3 SubmittersRCV000344997 RCV001437682 RCV003326406

NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn)

SNV
Germline

Chr14:64163414

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7223349

rs_201134182

3 SubmittersRCV000398151 RCV001660638 RCV004021596

NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)

SNV
Germline

Chr14:64208788

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7224016

rs_149128439

3 SubmittersRCV000792210

NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln)

SNV
Germline

Chr14:64224540

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224870

rs_148791608

3 SubmittersRCV000293961 RCV004021599

NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)

SNV
Germline

Chr14:64051675

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7221014

rs_373690979

5 SubmittersRCV000436161 RCV000706415 RCV004022265

NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)

SNV
Germline

Chr6:152239701

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

CA16603269

rs_1057520134

2 SubmittersRCV000445042 RCV001207733

NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)

SNV
Germline

Chr6:152136648

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4052783

rs_201344762

5 SubmittersRCV000528495 RCV001084259 RCV001156688 RCV001156689 RCV004533037

NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)

SNV
Germline

Chr6:152309862

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055326

rs_200002217

3 SubmittersRCV000439823 RCV000726700 RCV001079022

NM_182961.4(SYNE1):c.16573-3C>T

SNV
Germline

Chr6:152316989

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4055472

rs_376927135

3 SubmittersRCV000437425 RCV001363260 RCV003138006

NM_182961.4(SYNE1):c.9507+6T>C

SNV
Germline

Chr6:152373031

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057313

rs_372138410

2 SubmittersRCV000423007 RCV001308584

NM_182961.4(SYNE1):c.666G>A (p.Pro222=)

SNV
Germline

Chr6:152505313

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059657

rs_141368652

3 SubmittersRCV000437677 RCV000756745 RCV002525348

NM_182961.4(SYNE1):c.25119+3A>G

SNV
Germline

Chr6:152143620

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16605038

rs_1057521423

3 SubmittersRCV000420476 RCV001046143 RCV003138003

NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)

SNV
Germline

Chr6:152269178

Pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA16605044

rs_910956017

2 SubmittersRCV000426586 RCV000812312

NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)

SNV
Germline

Chr6:152219171

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054025

rs_375826346

3 SubmittersRCV000419985 RCV000726495 RCV001087911

NM_182914.3(SYNE2):c.237+6A>G

SNV
Germline

Chr14:63941796

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7219045

rs_766604570

2 SubmittersRCV000434643 RCV002521570

NM_000117.3(EMD):c.166G>A (p.Ala56Thr)

SNV
Germline

ChrX:154379773

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16608347

rs_1057520579

4 SubmittersRCV000422963 RCV000537218 RCV001828405 RCV002402135

NM_000117.3(EMD):c.171C>T (p.Ser57=)

SNV
Germline

ChrX:154379778

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16609156

rs_900267221

5 SubmittersRCV000421335 RCV002411328 RCV000726639 RCV001400969 RCV001828412

NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)

SNV
Germline

Chr6:152354858

Conflicting classifications of pathogenicity

Abnormal brain morphology
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA16609512

rs_1060499769

2 SubmittersRCV000454183 RCV001151476 RCV001151475

NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)

SNV
Germline

Chr3:14141706

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
Cardiomyopathy
Auditory neuropathy, autosomal dominant 3
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Criteria Provided
Conflicting Classifications

CA051252

rs_773224617

10 SubmittersRCV000455923 RCV001346107 RCV002223838 RCV001524277 RCV002221536 RCV002436372 RCV002481361

NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)

SNV
Germline

ChrX:154379730

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

CA16616634

rs_1060502612

1 SubmittersRCV000458523

NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)

SNV
Germline

Chr6:152224639

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054170

rs_145882956

8 SubmittersRCV000479469 RCV000733258 RCV001007793 RCV001153133 RCV001057442

NM_182961.4(SYNE1):c.17682+1G>A

SNV
Germline

Chr6:152300640

Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

CA16618256

rs_1064796579

2 SubmittersRCV000479980 RCV002526954

NM_000117.3(EMD):c.355C>A (p.Gln119Lys)

SNV
Germline

ChrX:154380323

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiomyopathy
Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561579

rs_398123157

5 SubmittersRCV000727407 RCV000687906 RCV001798859 RCV001834570

NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)

SNV
Germline

Chr6:152458877

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4059133

rs_375111758

3 SubmittersRCV000488225 RCV001486629 RCV004541537

NM_000117.3(EMD):c.82G>A (p.Gly28Arg)

SNV
Germline

ChrX:154379566

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16621905

rs_1064797380

3 SubmittersRCV000487908 RCV001865504 RCV002431424

NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)

SNV
Germline

Chr6:152310514

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055393

rs_138509817

6 SubmittersRCV000498329 RCV000730469 RCV001086544

NM_000117.3(EMD):c.600G>A (p.Trp200Ter)

SNV
Germline

ChrX:154381032

Pathogenic/Likely pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415258991

rs_1557182661

2 SubmittersRCV000498750 RCV000793350

NM_000117.3(EMD):c.82+1G>T

SNV
Unknown

ChrX:154379567

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

CA415257200

rs_1557182214

1 SubmittersRCV000497910

NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg)

SNV
Germline

Chr14:64055984

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221354

rs_374766665

3 SubmittersRCV000501363 RCV001314145

NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)

SNV
Germline

Chr6:152151655

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053196

rs_371204427

3 SubmittersRCV000517836 RCV000726698 RCV001413531

NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)

SNV
Germline

Chr6:152220922

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054064

rs_138032057

4 SubmittersRCV000518690 RCV000727135 RCV001082047

NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)

SNV
Germline

Chr6:152323488

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055665

rs_149215868

5 SubmittersRCV000518616 RCV001153758 RCV001065562 RCV001153759

NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)

SNV
Germline

Chr6:152353269

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056744

rs_138882800

4 SubmittersRCV000517997 RCV000731691 RCV001478582

NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)

SNV
Germline

Chr6:152390442

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4057632

rs_147870520

5 SubmittersRCV000730924 RCV001088942 RCV002527543

NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)

SNV
Germline

Chr6:152419708

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058318

rs_146244669

5 SubmittersRCV000516561 RCV000726600 RCV001078470 RCV004541624

NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)

SNV
Germline

Chr6:152449564

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4058838

rs_746060505

3 SubmittersRCV000517761 RCV000878962 RCV002060265

NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)

SNV
Germline

Chr6:152449601

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4058842

rs_760256766

3 SubmittersRCV000690099 RCV003431061

NM_182914.3(SYNE2):c.4423A>G (p.Lys1475Glu)

SNV
Germline

Chr14:64007068

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220217

rs_761080544

3 SubmittersRCV000518314 RCV000767015 RCV001112392

NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)

SNV
Germline

Chr14:64021318

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220413

rs_189676187

4 SubmittersRCV000516240 RCV000705421

NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser)

SNV
Germline

Chr14:64065525

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221476

rs_768614412

2 SubmittersRCV000516246 RCV000647581

NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe)

SNV
Germline

Chr14:64074030

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

CA7221607

rs_748430621

3 SubmittersRCV000517511 RCV000697816 RCV003925549

NM_182914.3(SYNE2):c.11164-4C>T

SNV
Germline

Chr14:64080452

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7221724

rs_370961691

2 SubmittersRCV000516264 RCV000524599

NM_000117.3(EMD):c.537G>A (p.Leu179=)

SNV
Germline

ChrX:154380969

Conflicting classifications of pathogenicity

not specified
Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561630

rs_368661339

6 SubmittersRCV000516427 RCV000726975 RCV001081000 RCV002350136 RCV001834665

NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)

SNV
Germline

Chr6:152352264

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056709

rs_150121030

4 SubmittersRCV000727453 RCV002060277

NM_182914.3(SYNE2):c.7643+6T>C

SNV
Germline

Chr14:64049882

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7220978

rs_144143344

3 SubmittersRCV000519021 RCV001088604 RCV001662529

NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)

SNV
Germline

Chr3:14132556

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 5
Cardiomyopathy
not specified
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA053446

rs_140347235

5 SubmittersRCV000543452 RCV001181851 RCV001255532 RCV002476153 RCV003302839

NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)

SNV
Germline

Chr6:152373195

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4057342

rs_566953005

4 SubmittersRCV000536424 RCV001764585 RCV004543184

NM_182961.4(SYNE1):c.16390-2A>C

SNV
Germline

Chr6:152318265

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055517

rs_759460806

4 SubmittersRCV000727362 RCV001380011

NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)

SNV
Germline

Chr6:152231532

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054298

rs_766515787

2 SubmittersRCV000537179 RCV001151971 RCV001151972

NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=)

SNV
Germline

Chr6:152330570

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056068

rs_377739292

2 SubmittersRCV000545550 RCV000592392

NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)

SNV
Germline

Chr6:152483145

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4059471

rs_755709525

3 SubmittersRCV000533514 RCV000596607

NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser)

SNV
Germline

Chr7:842041

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4111482

rs_541487561

2 SubmittersRCV000555793 RCV004023864

NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile)

SNV
Germline

Chr7:869511

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
SUN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4112491

rs_200907784

3 SubmittersRCV000536803 RCV003935426 RCV004023861

NM_001130965.3(SUN1):c.23T>C (p.Met8Thr)

SNV
Germline

Chr7:832547

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4111356

rs_373925818

2 SubmittersRCV000526025 RCV004023863

NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)

SNV
Germline

Chr14:63990499

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7219679

rs_200848069

5 SubmittersRCV000542194 RCV003962547 RCV003884625 RCV004024168

NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)

SNV
Germline

Chr14:64141395

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7222963

rs_201269146

4 SubmittersRCV000540282 RCV000993215

NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)

SNV
Germline

Chr14:64113426

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7222241

rs_139959852

4 SubmittersRCV000554298 RCV004024162

NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)

SNV
Germline

Chr14:64049716

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7220947

rs_201036334

2 SubmittersRCV000554851

NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe)

SNV
Germline

Chr14:64065437

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7221464

rs_201421128

3 SubmittersRCV000557826 RCV003392399

NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys)

SNV
Germline

Chr14:64126796

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA261849912

rs_767673156

3 SubmittersRCV000552858 RCV004024165

NM_000117.3(EMD):c.430G>T (p.Glu144Ter)

SNV
Germline

ChrX:154380783

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA415258268

rs_1557182560

2 SubmittersRCV000557820 RCV000723516

NM_000117.3(EMD):c.611G>A (p.Arg204His)

SNV
Germline

ChrX:154381043

Conflicting classifications of pathogenicity

Cardiovascular phenotype
X-linked Emery-Dreifuss muscular dystrophy
Condition: not provided
Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561647

rs_782642152

4 SubmittersRCV000618581 RCV000551537 RCV000762691 RCV001829576

NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)

SNV
Germline

ChrX:154379496

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

CA415256838

rs_782011714

1 SubmittersRCV000543940

NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)

SNV
Germline

Chr1:156136925

Likely pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Single Submitter

CA342822406

rs_1553265999

1 SubmittersRCV000578339

NM_182961.4(SYNE1):c.18574-4G>C

SNV
Germline

Chr6:152269290

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054919

rs_767063118

2 SubmittersRCV000585588 RCV002065126

NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)

SNV
Germline

Chr6:152416630

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4058218

rs_112744561

6 SubmittersRCV000595514 RCV000872151 RCV001571443 RCV002532364 RCV004543311

NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)

SNV
Germline

Chr6:152376895

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057410

rs_148486281

3 SubmittersRCV000597769 RCV001087435

NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=)

SNV
Germline

Chr6:152255671

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054744

rs_372723292

2 SubmittersRCV000591118 RCV001472775

NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=)

SNV
Germline

Chr6:152376829

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4057404

rs_149317945

2 SubmittersRCV000591731 RCV002065141

NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)

SNV
Germline

Chr6:152130767

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4052656

rs_765865910

3 SubmittersRCV000594713 RCV002065142

NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=)

SNV
Germline

Chr6:152130773

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA452745988

rs_1554372048

2 SubmittersRCV000596793 RCV001473296

NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=)

SNV
Germline

Chr6:152262155

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054830

rs_776505129

2 SubmittersRCV000594268 RCV001080645

NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)

SNV
Germline

Chr6:152236946

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054496

rs_141263831

6 SubmittersRCV000596992 RCV001821719 RCV001088811

NM_000117.3(EMD):c.423T>G (p.Ser141=)

SNV
Germline

ChrX:154380776

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA519709763

rs_1209782193

3 SubmittersRCV000597174 RCV001459224

NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=)

SNV
Germline

Chr6:152180241

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053615

rs_772418162

2 SubmittersRCV000596094 RCV002065149

NM_000117.3(EMD):c.495G>T (p.Thr165=)

SNV
Germline

ChrX:154380927

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA519709959

rs_151074632

3 SubmittersRCV000597033 RCV001089082 RCV002341518

NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)

SNV
Germline

Chr6:152330041

Pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

CA4055974

rs_375077588

3 SubmittersRCV000597761 RCV001215868

NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=)

SNV
Germline

Chr6:152331731

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA150179801

rs_968884551

2 SubmittersRCV000597565 RCV001083395

NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)

SNV
Germline

Chr6:152395609

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057768

rs_550027519

3 SubmittersRCV000595502 RCV001155739 RCV001155738 RCV002532436

NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=)

SNV
Germline

Chr6:152310494

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA452754696

rs_1554410681

2 SubmittersRCV000595327 RCV003767366

NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)

SNV
Germline

Chr6:152330060

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified

Criteria Provided
Conflicting Classifications

CA4055976

rs_140118684

3 SubmittersRCV000594560 RCV000647702 RCV001288820

NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=)

SNV
Germline

Chr6:152369492

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057275

rs_757280513

2 SubmittersRCV000596407 RCV001393112

NM_000117.3(EMD):c.484C>T (p.Gln162Ter)

SNV
Germline

ChrX:154380916

Pathogenic

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA415258537

rs_1557182611

2 SubmittersRCV000596678 RCV000690680

NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=)

SNV
Germline

Chr6:152441226

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA150229105

rs_966425412

2 SubmittersRCV000596252 RCV001496314

NM_182961.4(SYNE1):c.1463+9A>G

SNV
Germline

Chr6:152472292

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059398

rs_368846118

3 SubmittersRCV000597830 RCV001158159 RCV001158160 RCV001445707

NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=)

SNV
Germline

Chr6:152401246

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA150197940

rs_898678358

2 SubmittersRCV000594704 RCV002062038

NM_182961.4(SYNE1):c.679T>C (p.Leu227=)

SNV
Germline

Chr6:152505300

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4059654

rs_374438652

2 SubmittersRCV000594810 RCV003767371

NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=)

SNV
Germline

Chr6:152213738

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053889

rs_745722568

3 SubmittersRCV000591219 RCV001157236 RCV001157237 RCV002531045

NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)

SNV
Germline

Chr6:152350756

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4056642

rs_760332489

3 SubmittersRCV000596419 RCV001860184 RCV004543353

NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=)

SNV
Germline

Chr6:152255609

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054728

rs_749942439

2 SubmittersRCV000594680 RCV001860185

NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)

SNV
Germline

Chr6:152352117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4056681

rs_746623465

3 SubmittersRCV000593970 RCV000727054 RCV002062055

NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=)

SNV
Germline

Chr6:152369083

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4057239

rs_377001681

2 SubmittersRCV000591850 RCV002065161

NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)

SNV
Germline

Chr6:152262133

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054825

rs_143594709

4 SubmittersRCV000597682 RCV001155950 RCV001155951 RCV001867963

NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)

SNV
Germline

Chr6:152224546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4054151

rs_34963077

5 SubmittersRCV000597365 RCV000836495 RCV001088005 RCV004543361 RCV002532500

NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)

SNV
Germline

Chr6:152145542

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053024

rs_761266231

2 SubmittersRCV000596138 RCV001078930

NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)

SNV
Germline

Chr6:152220998

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054080

rs_148606479

3 SubmittersRCV000596574 RCV000727219 RCV002062072

NM_000117.3(EMD):c.243C>T (p.Asp81=)

SNV
Germline

ChrX:154379997

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10561550

rs_150757295

3 SubmittersRCV000591828 RCV001088435 RCV002456307

NM_182961.4(SYNE1):c.23302-8C>T

SNV
Germline

Chr6:152180302

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053625

rs_376491803

2 SubmittersRCV000597020 RCV001478112

NM_000117.3(EMD):c.144C>G (p.Leu48=)

SNV
Germline

ChrX:154379751

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA519277902

rs_200537612

3 SubmittersRCV000592967 RCV001441780 RCV002395530

NM_000117.3(EMD):c.168C>T (p.Ala56=)

SNV
Germline

ChrX:154379775

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10561520

rs_782087009

2 SubmittersRCV000598121 RCV002532555

NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=)

SNV
Germline

Chr6:152442171

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058716

rs_199595574

2 SubmittersRCV000598152 RCV001348427

NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=)

SNV
Germline

Chr6:152293969

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055116

rs_143490673

2 SubmittersRCV000597347 RCV001088084

NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)

SNV
Germline

Chr6:152219012

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053995

rs_750669148

4 SubmittersRCV000595721 RCV001088801

NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=)

SNV
Germline

Chr6:152268088

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054856

rs_774395991

2 SubmittersRCV000596466 RCV002062083

NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)

SNV
Germline

Chr6:152262074

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054814

rs_759556319

5 SubmittersRCV000593289 RCV000797744

NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)

SNV
Germline

Chr6:152281975

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA150182657

rs_942245024

3 SubmittersRCV000615766 RCV000731704 RCV002065308

NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)

SNV
Germline

Chr6:152373040

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150224266

rs_1020832262

3 SubmittersRCV001497090 RCV001718921

NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)

SNV
Germline

Chr6:152462741

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4059193

rs_201537074

3 SubmittersRCV000602015 RCV001158054 RCV001152584 RCV001393966

NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)

SNV
Germline

Chr6:152242318

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4054571

rs_776418227

4 SubmittersRCV000609635 RCV000732208 RCV002529496

NM_182961.4(SYNE1):c.17347-6C>T

SNV
Germline

Chr6:152302069

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4055240

rs_201692248

4 SubmittersRCV000607737 RCV000729837 RCV001079453 RCV002531533

NM_182961.4(SYNE1):c.24977-1718G>A

SNV
Germline

Chr6:152145483

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053012

rs_370143116

3 SubmittersRCV000616374 RCV000803518 RCV003488726

NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)

SNV
Germline

Chr6:152164196

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053373

rs_377113267

4 SubmittersRCV000599869 RCV000730729 RCV001154607 RCV001078490 RCV001154606

NM_182961.4(SYNE1):c.10443+5G>A

SNV
Germline

Chr6:152359310

Conflicting classifications of pathogenicity

not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056962

rs_557835636

3 SubmittersRCV000603330 RCV001217158 RCV003424176

NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)

SNV
Germline

Chr6:152416949

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4058261

rs_118022241

4 SubmittersRCV000603191 RCV000728960 RCV001521385

NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)

SNV
Germline

Chr6:152453622

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA150240412

rs_1014746277

3 SubmittersRCV000604176 RCV000731705 RCV002064078

NM_170707.4(LMNA):c.1324G>A (p.Val442Met)

SNV
Germline

Chr1:156136380

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA049885

rs_368542816

9 SubmittersRCV000621062 RCV001096941 RCV001096943 RCV001096942 RCV001096944 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV000808964 RCV001190252 RCV001096945 RCV001096946 RCV001544605 RCV004002668

NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)

SNV
Germline

Chr1:156115223

Conflicting classifications of pathogenicity

Inborn genetic diseases
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342808708

rs_1553262007

3 SubmittersRCV000622678 RCV001376156 RCV003133407

NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)

SNV
Unknown

Chr6:152325174

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

CA366091091

rs_1554451078

1 SubmittersRCV000626156

NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)

SNV
Germline

Chr6:152149486

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053132

rs_201078523

3 SubmittersRCV000731132 RCV001079167

NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=)

SNV
Germline

Chr6:152180190

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4053610

rs_780485635

2 SubmittersRCV000647697 RCV000734964

NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)

SNV
Germline

Chr6:152155969

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4053319

rs_767628258

2 SubmittersRCV000647683 RCV001151594 RCV001151593

NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)

SNV
Germline

Chr6:152141226

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4052897

rs_375476506

4 SubmittersRCV000647632 RCV000713648 RCV004544876

NM_182914.3(SYNE2):c.9691C>T (p.Arg3231Cys)

SNV
Germline

Chr14:64053604

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7221313

rs_546650178

3 SubmittersRCV000647605 RCV003905752 RCV004025743

NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)

SNV
Germline

Chr14:64029926

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7220775

rs_764036360

3 SubmittersRCV000647537 RCV004025741

NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro)

SNV
Germline

Chr14:64223238

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7224796

rs_147470935

3 SubmittersRCV000647578 RCV004025742

NM_182914.3(SYNE2):c.7093C>T (p.Arg2365Cys)

SNV
Germline

Chr14:64031229

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7220847

rs_781422804

2 SubmittersRCV000647547 RCV004568446

NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)

SNV
Germline

Chr14:64051621

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7221004

rs_376507352

4 SubmittersRCV000647534 RCV004025740

NM_182914.3(SYNE2):c.12381+6G>A

SNV
Germline

Chr14:64098827

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7222106

rs_781486571

2 SubmittersRCV000647590

NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)

SNV
Germline

Chr14:64167590

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7223514

rs_139187222

2 SubmittersRCV000647610

NM_182961.4(SYNE1):c.18574-11G>A

SNV
Germline

Chr6:152269297

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_1477560269

2 SubmittersRCV000658229 RCV002060785

NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)

SNV
Germline

Chr1:156136414

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Congenital muscular dystrophy due to LMNA mutation
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Condition: not provided
Dilated cardiomyopathy 1A
Mandibuloacral dysplasia with type A lipodystrophy
Hutchinson-Gilford syndrome
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_267607598

6 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097054 RCV001102454 RCV001102455 RCV001786410 RCV001097050 RCV001097052 RCV001102457 RCV001183072 RCV003999552

NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)

SNV
Germline

Chr6:152413431

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376518010

3 SubmittersRCV000685315 RCV003140078

NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)

SNV
Germline

Chr6:152308620

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_746328978

1 SubmittersRCV000692762

NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)

SNV
Germline

Chr14:64048088

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_373880647

4 SubmittersRCV000693210 RCV004025145

NM_182914.3(SYNE2):c.11660G>A (p.Arg3887Gln)

SNV
Germline

Chr14:64087846

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_181798411

2 SubmittersRCV000691543 RCV004025091

NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His)

SNV
Germline

Chr14:64167381

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_141144237

3 SubmittersRCV000693251 RCV004025147

NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile)

SNV
Germline

Chr14:64076025

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_772140514

2 SubmittersRCV000688373

NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)

SNV
Germline

Chr14:64113386

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_138644399

6 SubmittersRCV000702963 RCV001088168 RCV003938044 RCV004026610

NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg)

SNV
Germline

Chr14:64134072

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_148323208

2 SubmittersRCV000690362

NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)

SNV
Germline

Chr6:152385764

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_757737346

3 SubmittersRCV000713691 RCV002532960

NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)

SNV
Germline

Chr6:152404293

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_1563754171

2 SubmittersRCV000713681 RCV002534521

NM_182961.4(SYNE1):c.462C>T (p.Ser154=)

SNV
Germline

Chr6:152510312

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_761939786

3 SubmittersRCV000713667 RCV002067006

NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)

SNV
Germline

Chr14:64048079

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_202200597

4 SubmittersRCV000713720 RCV000819264 RCV004026830

NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)

SNV
Germline

Chr6:152206264

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

rs_2296253

4 SubmittersRCV000728235 RCV002535061 RCV004540035

NM_000117.3(EMD):c.408T>C (p.Asp136=)

SNV
Germline

ChrX:154380761

Conflicting classifications of pathogenicity

Condition: not provided
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_1569552096

2 SubmittersRCV000729359 RCV001492329

NM_182961.4(SYNE1):c.24723C>T (p.His8241=)

SNV
Germline

Chr6:152148298

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

rs_141586001

3 SubmittersRCV000729361 RCV001432811 RCV004540044

NM_182961.4(SYNE1):c.18972+4T>C

SNV
Germline

Chr6:152262028

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified

Criteria Provided
Conflicting Classifications

rs_774096623

4 SubmittersRCV000729512 RCV001862175 RCV002469278

NM_182961.4(SYNE1):c.7878C>T (p.His2626=)

SNV
Germline

Chr6:152391403

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_138196409

2 SubmittersRCV000729696 RCV002535129

NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=)

SNV
Germline

Chr6:152269185

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_373495185

2 SubmittersRCV000729697 RCV002067098

NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)

SNV
Germline

Chr6:152330579

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_146180064

4 SubmittersRCV000729699 RCV001455472

NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)

SNV
Germline

Chr6:152310399

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_573806608

3 SubmittersRCV000730062 RCV001153667 RCV001153666 RCV002060989

NM_182961.4(SYNE1):c.6093C>T (p.His2031=)

SNV
Germline

Chr6:152413489

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_150072383

2 SubmittersRCV000730251 RCV001086704

NM_182961.4(SYNE1):c.17851-7G>T

SNV
Germline

Chr6:152293756

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_776806501

3 SubmittersRCV000730582 RCV002535158

NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu)

SNV
Germline

Chr6:152444557

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_146403390

2 SubmittersRCV000730856 RCV001153670 RCV001153671

NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His)

SNV
Germline

Chr6:152387318

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_200658991

2 SubmittersRCV000730917 RCV001087327

NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=)

SNV
Germline

Chr6:152442186

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_753027544

2 SubmittersRCV000730918 RCV001410426

NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=)

SNV
Germline

Chr6:152323645

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_779480129

2 SubmittersRCV000730994 RCV002067112

NM_182961.4(SYNE1):c.2569-7G>A

SNV
Germline

Chr6:152456051

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_372744173

2 SubmittersRCV000731209 RCV001089245

NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=)

SNV
Germline

Chr6:152373109

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_750286179

2 SubmittersRCV000731216 RCV002535198

NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)

SNV
Germline

Chr6:152387249

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

rs_749172868

3 SubmittersRCV000731376 RCV003768206 RCV004535845

NM_182961.4(SYNE1):c.2688G>A (p.Arg896=)

SNV
Germline

Chr6:152455925

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_766583731

2 SubmittersRCV000731484 RCV003768212

NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)

SNV
Germline

Chr6:152367293

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_184006845

4 SubmittersRCV000731589 RCV001089364 RCV001155445 RCV001155446

NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)

SNV
Germline

Chr6:152255663

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_369626489

3 SubmittersRCV000731625 RCV002535226

NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=)

SNV
Germline

Chr6:152416587

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_373129942

2 SubmittersRCV000731688 RCV001089149

NM_182961.4(SYNE1):c.3670-4A>G

SNV
Germline

Chr6:152444582

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_377058395

3 SubmittersRCV000732425 RCV001153673 RCV001153672

NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=)

SNV
Germline

Chr6:152396846

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_901474571

2 SubmittersRCV000732548 RCV003768222

NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=)

SNV
Germline

Chr6:152233937

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_147173664

3 SubmittersRCV000732778 RCV002535290

NM_182961.4(SYNE1):c.1887A>G (p.Leu629=)

SNV
Germline

Chr6:152465303

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_972467458

2 SubmittersRCV000732975 RCV001506623

NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=)

SNV
Germline

Chr6:152449572

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_770210620

2 SubmittersRCV000733647 RCV003768232

NM_182961.4(SYNE1):c.7713-5T>C

SNV
Germline

Chr6:152391573

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_893217390

3 SubmittersRCV000733713 RCV003768233

NM_182961.4(SYNE1):c.10145+1G>A

SNV
Germline

Chr6:152364846

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

rs_1563391747

2 SubmittersRCV000734064 RCV001855798

NM_182961.4(SYNE1):c.3837+8T>C

SNV
Germline

Chr6:152444403

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_377391406

3 SubmittersRCV000734349 RCV002067165

NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=)

SNV
Germline

Chr6:152407017

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_758841233

2 SubmittersRCV000734353 RCV002536517

NM_182961.4(SYNE1):c.581+8T>C

SNV
Germline

Chr6:152510185

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_772647830

2 SubmittersRCV000734647 RCV003768245

NM_182961.4(SYNE1):c.393A>C (p.Leu131=)

SNV
Germline

Chr6:152511020

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_139291592

4 SubmittersRCV000735176 RCV001430481

NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)

SNV
Germline

Chr6:152152132

Conflicting classifications of pathogenicity

SYNE1-related disorder
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_1174316105

3 SubmittersRCV000779496 RCV000993164 RCV001390591

NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)

SNV
Germline

Chr6:152236944

Conflicting classifications of pathogenicity

SYNE1-related disorder
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766499430

3 SubmittersRCV000779500 RCV001216663 RCV003141764

NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr6:152539998

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199708211

3 SubmittersRCV000785021 RCV002535712 RCV003141767

NM_182961.4(SYNE1):c.23461-1G>A

SNV
Unknown

Chr6:152176561

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_1586909309

1 SubmittersRCV000790956

NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)

SNV
Germline

Chr1:156135991

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Lethal tight skin contracture syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Hutchinson-Gilford syndrome
Congenital muscular dystrophy due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
11 conditions
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease
not specified

Criteria Provided
Conflicting Classifications

rs_749784223

10 SubmittersRCV000812997 RCV001096836 RCV001096841 RCV001096835 RCV001096842 RCV001098596 RCV001096837 RCV001096838 RCV001096839 RCV001096840 RCV001102252 RCV001189952 RCV001593004 RCV002381813 RCV002507420 RCV004001748 RCV001172615 RCV001823746

NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)

SNV
Germline

Chr3:14134850

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_746183974

5 SubmittersRCV000796084 RCV002501053 RCV001190691 RCV003307442

NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)

SNV
Germline

Chr3:14139237

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 5
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_1431861933

4 SubmittersRCV000808695 RCV002370163 RCV002487744 RCV003532274

NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)

SNV
Germline

Chr6:152152050

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_1586296730

1 SubmittersRCV000805594

NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)

SNV
Germline

Chr6:152334135

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_145738035

3 SubmittersRCV000822560 RCV003432782 RCV004562807

NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)

SNV
Germline

Chr6:152430658

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_757744079

1 SubmittersRCV000820027

NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)

SNV
Germline

Chr6:152510223

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_1466752822

1 SubmittersRCV000805339

NM_182914.3(SYNE2):c.9088G>A (p.Glu3030Lys)

SNV
Germline

Chr14:64053001

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_60466225

2 SubmittersRCV000819940 RCV004029022

NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=)

SNV
Germline

Chr14:64113391

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_745820221

3 SubmittersRCV000822329 RCV003411815

NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe)

SNV
Germline

Chr14:64225392

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_201554266

2 SubmittersRCV000993221 RCV000808608

NM_182961.4(SYNE1):c.24977-1719A>G

SNV
Germline

Chr6:152145484

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_202030113

2 SubmittersRCV000820115 RCV001151364 RCV001151365

NM_182961.4(SYNE1):c.19260+2T>C

SNV
Germline

Chr6:152255589

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588855714

2 SubmittersRCV000805626 RCV001331540

NM_182961.4(SYNE1):c.10608+1G>C

SNV
Germline

Chr6:152358372

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_1590998146

1 SubmittersRCV000816324

NM_182961.4(SYNE1):c.16390-2A>G

SNV
Germline

Chr6:152318265

Pathogenic/Likely pathogenic

Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_759460806

7 SubmittersRCV000002415 RCV000826129 RCV000993140 RCV001383383 RCV001265815

NM_182961.4(SYNE1):c.336C>T (p.Thr112=)

SNV
Germline

Chr6:152511077

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_149008539

2 SubmittersRCV000840704 RCV001154078 RCV001154079

NM_170707.4(LMNA):c.1227A>G (p.Thr409=)

SNV
Germline

Chr1:156136283

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Mandibuloacral dysplasia with type A lipodystrophy
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Lethal tight skin contracture syndrome
Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Charcot-Marie-Tooth disease type 2B1
Hutchinson-Gilford syndrome
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_762130433

9 SubmittersRCV000865471 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962

NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)

SNV
Germline

Chr6:152323501

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143416387

2 SubmittersRCV000875130 RCV001766784

NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)

SNV
Germline

Chr14:63978892

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_200611311

3 SubmittersRCV001497913 RCV003955684

NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys)

SNV
Germline

Chr14:64093428

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_150105416

4 SubmittersRCV000873818 RCV001664514

NM_182914.3(SYNE2):c.12636C>G (p.Asp4212Glu)

SNV
Germline

Chr14:64113367

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_752924139

2 SubmittersRCV000876906 RCV004027882

NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)

SNV
Germline

Chr14:64125080

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_146977539

2 SubmittersRCV000878263

NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)

SNV
Germline

Chr14:64168883

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_751734028

5 SubmittersRCV000874519 RCV003392658 RCV004027845

NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)

SNV
Germline

Chr14:64170266

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_554186246

2 SubmittersRCV001434475

NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)

SNV
Germline

Chr14:64212072

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_145871645

3 SubmittersRCV000875357 RCV003938355

NM_182914.3(SYNE2):c.303A>G (p.Leu101=)

SNV
Germline

Chr14:63941950

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371277498

3 SubmittersRCV001111761 RCV003311922

NM_182914.3(SYNE2):c.7144G>A (p.Ala2382Thr)

SNV
Germline

Chr14:64031280

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_774232167

2 SubmittersRCV001484203 RCV004029815

NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)

SNV
Germline

Chr6:152136621

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747858299

3 SubmittersRCV000960979 RCV001156686 RCV001156687 RCV003424498

NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=)

SNV
Germline

Chr6:152141219

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_758276004

2 SubmittersRCV000892370 RCV001154307 RCV001154306

NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)

SNV
Germline

Chr6:152430623

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_776593228

3 SubmittersRCV000936705 RCV001153568 RCV001152292 RCV001463574

NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)

SNV
Unknown

ChrX:154379496

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_782011714

1 SubmittersRCV000991009

NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)

SNV
Germline

Chr6:152231428

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_145075161

4 SubmittersRCV000993151 RCV001858767

NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)

SNV
Germline

Chr6:152278149

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_764725032

3 SubmittersRCV000993145 RCV001235253

NM_024334.3(TMEM43):c.679C>G (p.His227Asp)

SNV
Germline

Chr3:14134865

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 5
Cardiomyopathy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3
Arrhythmogenic right ventricular dysplasia 5

Criteria Provided
Conflicting Classifications

rs_201460674

8 SubmittersRCV000998000 RCV001210003 RCV001170682 RCV003160147 RCV002479182

NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)

SNV
Germline

Chr6:152331427

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_752224921

3 SubmittersRCV000998714 RCV002225123 RCV002549102

NM_182961.4(SYNE1):c.600A>T (p.Val200=)

SNV
Germline

Chr6:152505379

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_781563259

3 SubmittersRCV000998726 RCV002550726

NM_170707.4(LMNA):c.409C>G (p.Leu137Val)

SNV
Germline

Chr1:156130669

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_747998566

2 SubmittersRCV001064120 RCV001253095

NM_170707.4(LMNA):c.1304G>A (p.Arg435His)

SNV
Germline

Chr1:156136360

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_1263919141

4 SubmittersRCV001054840 RCV003130131 RCV003333129 RCV003458326

NM_024334.3(TMEM43):c.90C>T (p.Ser30=)

SNV
Germline

Chr3:14129489

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373839281

3 SubmittersRCV001070035 RCV002497478 RCV003142026

NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)

SNV
Germline

Chr3:14130946

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 5
Cardiomyopathy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_748343919

5 SubmittersRCV001048822 RCV001187593 RCV002436593 RCV002505592

NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)

SNV
Germline

Chr6:152300675

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_1300885934

1 SubmittersRCV001046075

NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)

SNV
Germline

Chr6:152447471

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_767097288

2 SubmittersRCV001041916 RCV001732022

NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)

SNV
Germline

Chr6:152458789

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_2098713648

1 SubmittersRCV001069953

NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)

SNV
Germline

Chr14:63976677

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200836164

4 SubmittersRCV001060994 RCV003393830

NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys)

SNV
Germline

Chr14:63991027

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763133096

5 SubmittersRCV001068696 RCV004030686 RCV003456469

NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)

SNV
Germline

Chr14:64029922

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_767605722

3 SubmittersRCV001055815 RCV003222207 RCV004031768

NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)

SNV
Germline

Chr14:64143911

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_142206385

3 SubmittersRCV001067281

NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)

SNV
Germline

Chr14:64170368

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200137127

4 SubmittersRCV001068329 RCV001664658

NM_182961.4(SYNE1):c.6723+1G>C

SNV
Germline

Chr6:152407013

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_779302145

1 SubmittersRCV001041499

NM_182914.3(SYNE2):c.16905+4A>C

SNV
Germline

Chr14:64167643

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369093036

4 SubmittersRCV001068697 RCV003456470

NM_000117.3(EMD):c.83-2A>C

SNV
Germline

ChrX:154379688

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_727504901

1 SubmittersRCV001063271

NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)

SNV
Germline

Chr6:152281843

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_749005373

4 SubmittersRCV001156061 RCV001092455 RCV001156060 RCV001862710

NM_005572.3(LMNA):c.-223C>T

SNV
Germline

Chr1:156114696

Conflicting classifications of pathogenicity

Mandibuloacral dysplasia with type A lipodystrophy
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Charcot-Marie-Tooth disease type 2B1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Lethal tight skin contracture syndrome
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Emery-Dreifuss muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188625872

2 SubmittersRCV001099593 RCV001099598 RCV001097799 RCV001097800 RCV001099600 RCV001099599 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412

NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)

SNV
Germline

Chr14:64001959

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_773994020

3 SubmittersRCV001109638

NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)

SNV
Germline

Chr14:64024454

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_766666230

2 SubmittersRCV001109734

NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)

SNV
Germline

Chr14:64052299

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_200570324

2 SubmittersRCV001113927

NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)

SNV
Germline

Chr14:64052480

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_73277593

3 SubmittersRCV001109901 RCV004032148

NM_182914.3(SYNE2):c.9149C>G (p.Ala3050Gly)

SNV
Germline

Chr14:64053062

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_763273577

2 SubmittersRCV001112675 RCV004032172

NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)

SNV
Germline

Chr14:64074046

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_373340663

3 SubmittersRCV001112770 RCV004032174

NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)

SNV
Germline

Chr14:64098819

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_145874555

5 SubmittersRCV001114196 RCV003393849 RCV004032181

NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)

SNV
Germline

Chr14:64134128

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_568071525

3 SubmittersRCV001113002 RCV004032177

NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)

SNV
Germline

Chr14:64137931

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_145031656

2 SubmittersRCV001114376

NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)

SNV
Germline

Chr14:64143878

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_145018323

4 SubmittersRCV001111089 RCV003405320

NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)

SNV
Germline

Chr14:64167588

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_1490325276

2 SubmittersRCV001113185

NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)

SNV
Germline

Chr14:64186558

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_971473774

2 SubmittersRCV001111282

NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)

SNV
Germline

Chr14:64188621

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_572217007

2 SubmittersRCV001111283

NM_182914.3(SYNE2):c.18015T>C (p.His6005=)

SNV
Germline

Chr14:64190214

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_1323946751

2 SubmittersRCV001111284

NM_182914.3(SYNE2):c.18660C>T (p.His6220=)

SNV
Germline

Chr14:64210061

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_757875136

2 SubmittersRCV001114657

NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)

SNV
Germline

Chr14:64214279

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_140857065

3 SubmittersRCV001109023 RCV004032140

NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)

SNV
Germline

Chr14:64219357

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_143077670

2 SubmittersRCV001114767

NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)

SNV
Germline

Chr14:64220551

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_35763782

3 SubmittersRCV001114770

NM_182914.3(SYNE2):c.4398-11T>A

SNV
Germline

Chr14:64007032

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_2096801796

2 SubmittersRCV001111939

NM_182914.3(SYNE2):c.16760+6A>G

SNV
Germline

Chr14:64167393

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_756707482

2 SubmittersRCV001113183

NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)

SNV
Germline

Chr6:152141255

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_369691475

2 SubmittersRCV001154308 RCV001154309 RCV002559484

NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)

SNV
Germline

Chr6:152148143

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369073682

3 SubmittersRCV001155239 RCV001155240 RCV001213482 RCV001797155

NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)

SNV
Germline

Chr6:152148224

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_200137670

2 SubmittersRCV001156902 RCV001156903 RCV002032448

NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=)

SNV
Germline

Chr6:152148238

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771221504

2 SubmittersRCV001156904 RCV001156905 RCV001288824

NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)

SNV
Germline

Chr6:152154907

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_2061105872

2 SubmittersRCV001157003 RCV001157004 RCV002032450

NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)

SNV
Germline

Chr6:152281879

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

rs_759825628

4 SubmittersRCV001156063 RCV001156062 RCV001455927 RCV003142085 RCV004545086

NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)

SNV
Germline

Chr6:152294032

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_997194150

2 SubmittersRCV001153565 RCV001153564 RCV002070871

NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys)

SNV
Germline

Chr6:152294036

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_759380758

1 SubmittersRCV001153567 RCV001153566

NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)

SNV
Germline

Chr6:152302021

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_753335678

3 SubmittersRCV001157861 RCV001157862 RCV003142088 RCV002557349

NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)

SNV
Germline

Chr6:152326066

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_780437149

2 SubmittersRCV001152580 RCV001152581 RCV001428609

NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)

SNV
Germline

Chr6:152330652

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_753473819

2 SubmittersRCV001153962 RCV001153963 RCV001325192

NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)

SNV
Germline

Chr6:152344178

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_761744256

2 SubmittersRCV001151238 RCV001151239 RCV001224860

NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)

SNV
Germline

Chr6:152350645

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_775097525

2 SubmittersRCV001155140 RCV001155141 RCV002032430

NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)

SNV
Germline

Chr6:152352081

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_767967824

2 SubmittersRCV001151367 RCV001151366 RCV001460514

NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)

SNV
Germline

Chr6:152352130

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_76410834

3 SubmittersRCV001151369 RCV001340078 RCV001151368 RCV003142081

NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu)

SNV
Germline

Chr6:152362180

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_760727534

1 SubmittersRCV001155330 RCV001155331

NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser)

SNV
Germline

Chr6:152387097

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_202207690

1 SubmittersRCV001153022 RCV001153023

NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro)

SNV
Germline

Chr6:152416771

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_779600835

1 SubmittersRCV001157654 RCV001157655

NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)

SNV
Germline

Chr6:152430534

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_755101379

2 SubmittersRCV001152289 RCV001157770 RCV002557286

NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)

SNV
Germline

Chr6:152449556

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149415204

3 SubmittersRCV001156270 RCV001156271 RCV001859019 RCV003142086

NM_182961.4(SYNE1):c.4461+15C>T

SNV
Germline

Chr6:152433780

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_757969745

2 SubmittersRCV001153569 RCV001153570 RCV002559480

NM_182961.4(SYNE1):c.1932+9G>T

SNV
Germline

Chr6:152465249

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_746181375

2 SubmittersRCV001153862 RCV001153863 RCV002558334

NM_182961.4(SYNE1):c.581+7A>G

SNV
Germline

Chr6:152510186

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_367617527

2 SubmittersRCV001152803 RCV001158284 RCV001471897

NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)

SNV
Germline

Chr6:152376497

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_549779256

2 SubmittersRCV001169970 RCV001593305

NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)

SNV
Germline

Chr3:14135194

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 5
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Auditory neuropathy, autosomal dominant 3

Criteria Provided
Conflicting Classifications

rs_780389237

10 SubmittersRCV001183922 RCV001529347 RCV001244427 RCV002379711 RCV002505782

NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)

SNV
Germline

Chr6:152244557

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2086610889

1 SubmittersRCV001193565

NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)

SNV
Germline

Chr14:64053414

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_1026697162

3 SubmittersRCV001229637 RCV004033461

NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)

SNV
Germline

Chr6:152293695

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_967105970

1 SubmittersRCV001213886

NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)

SNV
Germline

Chr6:152387272

Pathogenic/Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_946657984

3 SubmittersRCV001206224 RCV001780115

NM_182914.3(SYNE2):c.8524A>G (p.Ile2842Val)

SNV
Germline

Chr14:64052437

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_370213701

2 SubmittersRCV001213111 RCV004033874

NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu)

SNV
Germline

Chr14:64119442

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763081757

2 SubmittersRCV001211957 RCV003393889

NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln)

SNV
Germline

Chr22:38741504

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_763323157

2 SubmittersRCV001235923 RCV004033297

NM_182914.3(SYNE2):c.8632G>A (p.Glu2878Lys)

SNV
Germline

Chr14:64052545

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_61744386

2 SubmittersRCV001247054 RCV004034884

NM_000117.3(EMD):c.82+1G>A

SNV
Germline

ChrX:154379567

Likely pathogenic

X-linked Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557182214

2 SubmittersRCV001251168 RCV002221161

NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)

SNV
Germline

Chr6:152321831

Pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_781354327

2 SubmittersRCV001268448 RCV003770400

NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=)

SNV
Germline

Chr6:152441235

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_765010255

2 SubmittersRCV001288833 RCV002069554

NM_182961.4(SYNE1):c.114C>T (p.Asn38=)

SNV
Germline

Chr6:152539975

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_150562892

2 SubmittersRCV001288469 RCV003770456

NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met)

SNV
Germline

Chr14:64051577

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_201297144

2 SubmittersRCV001288501 RCV001435801

NM_182914.3(SYNE2):c.12307-5T>C

SNV
Germline

Chr14:64098742

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_374468002

2 SubmittersRCV001288051 RCV002069540

NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)

SNV
Germline

Chr6:152224553

Pathogenic

Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_778445117

5 SubmittersRCV001289554 RCV001586111 RCV001871729

NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu)

SNV
Germline

Chr7:852657

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_377260468

2 SubmittersRCV001298587 RCV004036110

NM_182914.3(SYNE2):c.8861C>T (p.Ala2954Val)

SNV
Germline

Chr14:64052774

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_369713092

2 SubmittersRCV001304029 RCV004036300

NM_000117.3(EMD):c.572T>C (p.Met191Thr)

SNV
Germline

ChrX:154381004

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_782244432

3 SubmittersRCV001309088 RCV001835515 RCV002350560

NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr6:152505273

Pathogenic

Spastic ataxia
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2154331501

4 SubmittersRCV001647253 RCV001863182 RCV003323858 RCV004531115

NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter)

SNV
Germline

Chr14:63996976

Pathogenic

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Single Submitter

rs_1323140900

1 SubmittersRCV001647207

NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu)

SNV
Germline

Chr14:64141506

Conflicting classifications of pathogenicity

Spastic ataxia
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_2153692395

2 SubmittersRCV001647185 RCV002546244

NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)

SNV
Germline

Chr14:64055977

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_570116954

3 SubmittersRCV001331918 RCV004035724

NM_182914.3(SYNE2):c.16602C>G (p.Phe5534Leu)

SNV
Germline

Chr14:64165407

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748802577

2 SubmittersRCV001348409 RCV003393994

NM_182914.3(SYNE2):c.19625G>A (p.Gly6542Glu)

SNV
Germline

Chr14:64218480

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_772447674

2 SubmittersRCV001349374 RCV004036583

NM_000117.3(EMD):c.173C>T (p.Ser58Phe)

SNV
Germline

ChrX:154379780

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_781797234

4 SubmittersRCV001376155 RCV003365355

NM_000117.3(EMD):c.449+1G>A

SNV
Unknown

ChrX:154380803

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148128756

1 SubmittersRCV001376154

NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)

SNV
Germline

Chr14:64188560

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_538344879

4 SubmittersRCV001355334 RCV001453762

NM_182914.3(SYNE2):c.11528C>T (p.Ser3843Leu)

SNV
Germline

Chr14:64087714

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_757893794

2 SubmittersRCV001365261 RCV004036938

NM_182961.4(SYNE1):c.12079-2A>T

SNV
Germline

Chr6:152344229

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2154019221

2 SubmittersRCV001379983 RCV002291755

NM_182961.4(SYNE1):c.2568+1G>A

SNV
Germline

Chr6:152458756

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2154261629

1 SubmittersRCV001379981

NM_182961.4(SYNE1):c.67+2T>A

SNV
Germline

Chr6:152628263

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_762743107

1 SubmittersRCV001376825

NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)

SNV
Germline

Chr6:152220922

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_138032057

3 SubmittersRCV001380022 RCV001542658 RCV003136052

NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)

SNV
Germline

Chr6:152321363

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

rs_772587027

2 SubmittersRCV001385856 RCV003159545

NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)

SNV
Germline

Chr6:152407109

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_1417491327

1 SubmittersRCV001383637

NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)

SNV
Germline

Chr6:152453621

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2154254291

1 SubmittersRCV001388829

NM_000117.3(EMD):c.2T>G (p.Met1Arg)

SNV
Germline

ChrX:154379486

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148127941

1 SubmittersRCV001388435

NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)

SNV
Germline

ChrX:154379709

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148128122

1 SubmittersRCV001388436

NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)

SNV
Germline

ChrX:154380915

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148128811

1 SubmittersRCV001384139

NM_182914.3(SYNE2):c.9303A>G (p.Ile3101Met)

SNV
Germline

Chr14:64053216

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_188992180

2 SubmittersRCV001476805 RCV004037172

NM_182914.3(SYNE2):c.1598C>T (p.Ala533Val)

SNV
Germline

Chr14:63980682

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_371740578

2 SubmittersRCV001486295 RCV004037263

NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)

SNV
Germline

Chr14:64209951

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_761998546

2 SubmittersRCV001495303

NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)

SNV
Germline

Chr6:152430610

Pathogenic/Likely pathogenic

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_771760718

3 SubmittersRCV001545413 RCV003317511

NM_000117.3(EMD):c.285T>C (p.Tyr95=)

SNV
Germline

ChrX:154380253

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_2148128483

2 SubmittersRCV001563916

NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)

SNV
Germline

Chr6:152310702

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153836962

2 SubmittersRCV001663703 RCV002539656

NM_182961.4(SYNE1):c.21352-7T>G

SNV
Germline

Chr6:152224671

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_756684680

2 SubmittersRCV001663711 RCV003771829

NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=)

SNV
Germline

Chr6:152323579

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_762050069

2 SubmittersRCV001773963 RCV002540331

NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)

SNV
Germline

Chr6:152359344

Pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_2096893099

2 SubmittersRCV001785041 RCV002541166

NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)

SNV
Germline

Chr6:152425411

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

rs_2154194664

2 SubmittersRCV001783836 RCV002544274

NM_182961.4(SYNE1):c.24129+2T>C

SNV
Germline

Chr6:152154890

Likely pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_544985182

3 SubmittersRCV001783839 RCV003772157 RCV004536309

NM_000117.3(EMD):c.188-6A>G

SNV
Germline

ChrX:154379936

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_2148128297

2 SubmittersRCV001801337

NM_000117.3(EMD):c.187+1G>A

SNV
Germline

ChrX:154379795

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_794729010

2 SubmittersRCV001802514

NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val)

SNV
Germline

Chr14:64143781

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_376851893

2 SubmittersRCV001816141 RCV003136170

NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=)

SNV
Germline

Chr14:64219276

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_772308280

2 SubmittersRCV001820310 RCV003136177

NM_182961.4(SYNE1):c.12351+2T>C

SNV
Germline

Chr6:152339239

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2154000325

1 SubmittersRCV001959629

NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)

SNV
Germline

Chr6:152381226

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_2154115529

1 SubmittersRCV001924607

NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)

SNV
Germline

Chr6:152254927

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1258745040

2 SubmittersRCV001945112 RCV003434354

NM_182961.4(SYNE1):c.23790+1G>A

SNV
Germline

Chr6:152164162

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_2153025020

1 SubmittersRCV002018010

NM_000117.3(EMD):c.677G>C (p.Trp226Ser)

SNV
Germline

ChrX:154381109

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_141732118

2 SubmittersRCV001871327 RCV002361162

NM_182914.3(SYNE2):c.7481T>C (p.Ile2494Thr)

SNV
Germline

Chr14:64049714

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_377113182

2 SubmittersRCV001939296 RCV004043158

NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)

SNV
Germline

Chr6:152326092

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_1270730854

1 SubmittersRCV001985470

NM_182961.4(SYNE1):c.22590-1G>A

SNV
Germline

Chr6:152208207

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2153409815

1 SubmittersRCV002037066

NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)

SNV
Germline

Chr6:152401299

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2154151091

1 SubmittersRCV002014655

NM_182914.3(SYNE2):c.10867-3T>C

SNV
Germline

Chr14:64075942

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_764840139

2 SubmittersRCV001887522 RCV003948803

NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe)

SNV
Germline

Chr14:64016512

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_1018808319

2 SubmittersRCV001867723 RCV002246565

NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)

SNV
Germline

Chr6:152310744

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_777656140

1 SubmittersRCV002035307

NM_000117.3(EMD):c.399+1G>T

SNV
Germline

ChrX:154380368

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148128554

2 SubmittersRCV001994790

NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser)

SNV
Germline

Chr6:152308509

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774018511

2 SubmittersRCV002016200 RCV003222378

NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)

SNV
Germline

Chr6:152430637

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type

Criteria Provided
Multiple Submitters
No Conflicts

rs_988770583

2 SubmittersRCV001962904 RCV002246618

NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)

SNV
Germline

Chr6:152208062

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_780634258

1 SubmittersRCV001941988

NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)

SNV
Germline

Chr6:152330185

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_766129413

2 SubmittersRCV001939575 RCV003482390

NM_000117.3(EMD):c.266-3A>G

SNV
Germline

ChrX:154380231

Likely pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

rs_2148128459

2 SubmittersRCV001877850

NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)

SNV
Germline

Chr6:152278231

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2153709458

1 SubmittersRCV001953450

NM_000117.3(EMD):c.422C>T (p.Ser141Phe)

SNV
Germline

ChrX:154380775

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

rs_1262954618

3 SubmittersRCV002015350 RCV002331592 RCV003492720

NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)

SNV
Germline

Chr6:152249169

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_781655232

1 SubmittersRCV001880698

NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)

SNV
Germline

Chr6:152505318

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_750266004

1 SubmittersRCV001956393

NM_182961.4(SYNE1):c.16237-2A>G

SNV
Germline

Chr6:152319017

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

rs_2153903647

1 SubmittersRCV002019445

NM_182914.3(SYNE2):c.10070A>G (p.Tyr3357Cys)

SNV
Germline

Chr14:64062753

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_1034591406

2 SubmittersRCV001908557 RCV004039100

NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile)

SNV
Germline

Chr7:857946

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_371879209

2 SubmittersRCV001889732 RCV004041084

NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)

SNV
Germline

Chr6:152428292

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_566004273

3 SubmittersRCV001892097 RCV003136243

NM_182961.4(SYNE1):c.18208-1G>A

SNV
Germline

Chr6:152281981

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_2153725036

1 SubmittersRCV001980675

NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln)

SNV
Germline

Chr14:64129825

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_188252400

3 SubmittersRCV001873996 RCV004038983

NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)

SNV
Germline

Chr14:64098133

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_142169651

3 SubmittersRCV002164411 RCV003978882

NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)

SNV
Germline

Chr14:64220609

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNE2-related disorder

Criteria Provided
Conflicting Classifications

rs_140676416

3 SubmittersRCV002175690 RCV003978883

NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)

SNV
Germline

Chr14:64024308

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_773841153

3 SubmittersRCV002091610 RCV004046453

NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)

SNV
Germline

Chr14:64214412

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_772092387

2 SubmittersRCV002134588

NM_182914.3(SYNE2):c.17158A>G (p.Ser5720Gly)

SNV
Germline

Chr14:64170385

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_151044620

2 SubmittersRCV002192727 RCV004045553

NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)

SNV
Germline

Chr14:63990967

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_200503488

2 SubmittersRCV002113057

NM_000117.3(EMD):c.403C>T (p.His135Tyr)

SNV
Germline

ChrX:154380756

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Conflicting Classifications

rs_782110153

2 SubmittersRCV002209591 RCV003492731

NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)

SNV
Germline

Chr6:152407092

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1193871694

2 SubmittersRCV002209728 RCV003138071

NM_182961.4(SYNE1):c.6231-12T>C

SNV
Germline

Chr6:152409721

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified

Criteria Provided
Conflicting Classifications

rs_370687503

2 SubmittersRCV002118617 RCV003323993

NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)

SNV
Germline

Chr6:152149519

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370421580

4 SubmittersRCV002114824 RCV002508088 RCV003434439

NM_182914.3(SYNE2):c.2333C>G (p.Ser778Cys)

SNV
Germline

Chr14:63990430

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

rs_186652746

2 SubmittersRCV002162296 RCV004044987

NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=)

SNV
Germline

Chr6:152269197

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771466788

2 SubmittersRCV002141624 RCV003138083

NM_182961.4(SYNE1):c.11083-8T>C

SNV
Germline

Chr6:152353441

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

rs_752554466

2 SubmittersRCV002214415 RCV003093853

NM_170707.4(LMNA):c.1381-2A>C

SNV
Germline

Chr1:156136919

Pathogenic

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV002281663

NM_182961.4(SYNE1):c.18382-1G>A

SNV
Germline

Chr6:152278281

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

rs_762660111

1 SubmittersRCV002293384

NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)

SNV
Germline

Chr6:152330395

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002475126 RCV002574704

NM_182961.4(SYNE1):c.23020-7A>G

SNV
Germline

Chr6:152201956

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002475143 RCV003775546

NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)

SNV
Germline

Chr6:152453667

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002475152 RCV003775547

NM_000117.3(EMD):c.397C>T (p.Gln133Ter)

SNV
Germline

ChrX:154380365

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003050681

NM_000117.3(EMD):c.534C>A (p.Asp178Glu)

SNV
Germline

ChrX:154380966

Conflicting classifications of pathogenicity

X-linked Emery-Dreifuss muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003079942 RCV004071887

NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)

SNV
Germline

Chr6:152463508

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003117949

NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)

SNV
Germline

Chr6:152390389

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002572684

NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)

SNV
Germline

Chr14:64219253

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002630605 RCV004065865

NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)

SNV
Germline

Chr6:152353427

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002609260 RCV003138306

NM_182914.3(SYNE2):c.14480G>A (p.Arg4827His)

SNV
Germline

Chr14:64132404

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002627387 RCV004066623

NM_182961.4(SYNE1):c.888+2T>C

SNV
Germline

Chr6:152502631

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV002604424

NM_182914.3(SYNE2):c.7214T>A (p.Ile2405Lys)

SNV
Germline

Chr14:64031350

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002662401 RCV004066684

NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)

SNV
Germline

Chr6:152358489

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV002658377

NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)

SNV
Germline

Chr6:152331490

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002690457 RCV003427496

NM_015374.3(SUN2):c.437T>C (p.Val146Ala)

SNV
Germline

Chr22:38750308

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002740031 RCV004067706

NM_182961.4(SYNE1):c.2394+1G>A

SNV
Germline

Chr6:152461596

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002705482

NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)

SNV
Germline

Chr6:152395537

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV002766430

NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)

SNV
Germline

Chr6:152334206

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002819781

NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)

SNV
Germline

Chr6:152236207

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV002776583

NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)

SNV
Germline

Chr6:152133461

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV002875865

NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)

SNV
Germline

Chr6:152308551

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002867235

NM_000117.3(EMD):c.581C>G (p.Ser194Ter)

SNV
Germline

ChrX:154381013

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002961933

NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)

SNV
Germline

Chr6:152484849

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003000101

NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)

SNV
Germline

Chr6:152211568

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002996348 RCV003883861

NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)

SNV
Germline

Chr6:152140049

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002996386

NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)

SNV
Germline

Chr6:152149534

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003008390

NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)

SNV
Germline

Chr6:152230670

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV002991776

NM_182961.4(SYNE1):c.16896+1G>T

SNV
Germline

Chr6:152310687

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003006259

NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)

SNV
Germline

Chr6:152302037

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003053705

NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)

SNV
Germline

ChrX:154380978

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003053797

NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)

SNV
Germline

Chr6:152262064

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003030385

NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)

SNV
Germline

Chr6:152154903

Pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003033181

NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)

SNV
Germline

Chr6:152145524

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003062119

NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)

SNV
Germline

Chr14:64121059

Likely pathogenic

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003229494

NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)

SNV
Germline

Chr6:152140150

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003324251

NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)

SNV
Germline

ChrX:154380250

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 1, X-linked
X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003340827 RCV003523160

NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)

SNV
Germline

Chr6:152451058

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003337737

NM_000117.3(EMD):c.441C>A (p.Cys147Ter)

SNV
Unknown

ChrX:154380794

Likely pathogenic

Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV003389291

NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)

SNV
Germline

Chr6:152325155

Pathogenic/Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003778221 RCV004527831

NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)

SNV
Germline

Chr6:152211580

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003778302 RCV004534205

NM_182914.3(SYNE2):c.4196G>A (p.Cys1399Tyr)

SNV
Germline

Chr14:64003129

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003393464 RCV003603164

NM_182914.3(SYNE2):c.12301C>T (p.Arg4101Trp)

SNV
Germline

Chr14:64098141

Conflicting classifications of pathogenicity

Condition: not provided
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003393473 RCV003778389

NM_000117.3(EMD):c.161C>T (p.Ser54Phe)

SNV
Unknown

ChrX:154379768

Likely pathogenic

Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV003460021

NM_000117.3(EMD):c.262A>T (p.Lys88Ter)

SNV
Germline

ChrX:154380016

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003524202

NM_000117.3(EMD):c.256C>T (p.Gln86Ter)

SNV
Germline

ChrX:154380010

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003523391

NM_000117.3(EMD):c.187+2T>G

SNV
Germline

ChrX:154379796

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003639870

NM_000117.3(EMD):c.399+2T>C

SNV
Germline

ChrX:154380369

Pathogenic

X-linked Emery-Dreifuss muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003640017

NM_182914.3(SYNE2):c.13649T>C (p.Met4550Thr)

SNV
Germline

Chr14:64126421

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003604968 RCV004371839

NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)

SNV
Germline

Chr6:152354723

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003792347

NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)

SNV
Germline

Chr6:152396929

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003804124

NM_182961.4(SYNE1):c.19260+1G>T

SNV
Germline

Chr6:152255590

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003799354

NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)

SNV
Germline

Chr6:152236820

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003794838

NM_182961.4(SYNE1):c.22824+2T>A

SNV
Germline

Chr6:152207970

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003797339

NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)

SNV
Germline

Chr6:152294097

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003809514

NM_182961.4(SYNE1):c.19260+1G>C

SNV
Germline

Chr6:152255590

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV003801666

NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)

SNV
Germline

Chr22:20988104

Pathogenic

Emery-Dreifuss muscular dystrophy
Schwannomatosis

Criteria Provided
Single Submitter

1 SubmittersRCV004527095 RCV004579633

NM_000117.3(EMD):c.512C>G (p.Ser171Ter)

SNV
Germline

ChrX:154380944

Pathogenic

Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV004547315

NM_000117.3(EMD):c.450-1G>A

SNV
Unknown

ChrX:154380881

Likely pathogenic

Emery-Dreifuss muscular dystrophy 1, X-linked

Criteria Provided
Single Submitter

1 SubmittersRCV004576374