Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	SNV Germline	Chr2:219420939	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA216997	rs_59962885	6 SubmittersRCV000056762 RCV000856836 RCV002265557
NM_001927.4(DES):c.1078G>C (p.Ala360Pro)	SNV Germline	Chr2:219421394	Pathogenic	Desmin-related myofibrillar myopathy	No Assertion Criteria Provided	CA257642	rs_121913000	1 SubmittersRCV002265558
NM_001927.4(DES):c.1353C>G (p.Ile451Met)	SNV Germline	Chr2:219425727	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1I Condition: not provided Desmin-related myofibrillar myopathy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA257644	rs_121913002	12 SubmittersRCV000018318 RCV000056787 RCV000698481 RCV002265561 RCV004018640
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	SNV Germline	Chr2:219421350	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217003	rs_57639980	7 SubmittersRCV000056765 RCV001044194
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	SNV Germline	Chr2:219421532	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA257646	rs_121913003	13 SubmittersRCV000056781 RCV000627795 RCV001798009 RCV001787806 RCV005540009
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)	SNV Germline	Chr2:219421470	Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Limb-girdle muscular dystrophy	Criteria Provided Single Submitter	CA217023	rs_57955682	3 SubmittersRCV000056775 RCV002265562 RCV005624695
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)	SNV Germline	Chr2:219421482	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	No Assertion Criteria Provided	CA217025	rs_121913004	2 SubmittersRCV000056776 RCV002265563
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	SNV Germline	Chr2:219425699	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217036	rs_121913005	5 SubmittersRCV000056784 RCV000811753
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	SNV Germline	Chr2:219421365	Pathogenic	Neurogenic scapuloperoneal syndrome, Kaeser type Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA126906	rs_57965306	7 SubmittersRCV000018329 RCV000056767 RCV000651542
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)	SNV Germline	Chr7:128835550	Pathogenic/Likely pathogenic	Distal myopathy with posterior leg and anterior hand involvement Myofibrillar myopathy 5 Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 26 Distal myopathy with posterior leg and anterior hand involvement Myofibrillar myopathy 5 Hypertrophic cardiomyopathy 26 Desmin-related myofibrillar myopathy Distal myopathy with posterior leg and anterior hand involvement Myofibrillar myopathy 5 Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA128479	rs_387906587	9 SubmittersRCV000022429 RCV001384941 RCV001535684 RCV004555848 RCV000442836 RCV000600715
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	SNV Germline	Chr2:219423787	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA217034	rs_62635763	7 SubmittersRCV000056783 RCV000817811 RCV005549906
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	SNV Germline	Chr2:219421364	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary dilated cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Cardiomyopathy Cardiovascular phenotype DES-related disorder	Criteria Provided Conflicting Classifications	CA133808	rs_62636492	12 SubmittersRCV000056766 RCV000037224 RCV000157164 RCV001039932 RCV001250885 RCV003486560 RCV003298065 RCV003398603
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)	SNV Germline	Chr2:219425740	Conflicting classifications of pathogenicity	not specified Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA133826	rs_397516690	3 SubmittersRCV000037231 RCV001852772
NM_001927.4(DES):c.1404A>G (p.Glu468=)	SNV Germline	Chr2:219425981	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133829	rs_397516691	5 SubmittersRCV000037233 RCV000725821 RCV001078786 RCV002390149
NM_001927.4(DES):c.170C>T (p.Ser57Leu)	SNV Germline	Chr2:219418632	Conflicting classifications of pathogenicity	not specified Desmin-related myofibrillar myopathy Cardiovascular phenotype Condition: not provided Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA133832	rs_372825868	15 SubmittersRCV000037234 RCV000547047 RCV000621896 RCV000586931 RCV001142158 RCV001142159
NM_001927.4(DES):c.18G>A (p.Ser6=)	SNV Germline	Chr2:219418480	Conflicting classifications of pathogenicity	not specified Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Dilated cardiomyopathy 1I Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133835	rs_199972656	12 SubmittersRCV000037235 RCV000340575 RCV000405735 RCV000769153 RCV000334781 RCV000724222 RCV001081339 RCV002408511
NM_001927.4(DES):c.193G>A (p.Gly65Ser)	SNV Germline	Chr2:219418655	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA133838	rs_397516692	9 SubmittersRCV000037236 RCV000515205 RCV000724220 RCV000805979 RCV001137423 RCV001137421 RCV004018830
NM_001927.4(DES):c.380G>C (p.Arg127Pro)	SNV Germline	Chr2:219418842	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA133847	rs_397516694	4 SubmittersRCV000037239 RCV000183371 RCV000547988 RCV000852536
NM_001927.4(DES):c.38C>T (p.Ser13Phe)	SNV Germline	Chr2:219418500	Pathogenic	Primary dilated cardiomyopathy Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA261520	rs_62636495	10 SubmittersRCV000037240 RCV000056801 RCV001389153
NM_001927.4(DES):c.638C>T (p.Ala213Val)	SNV Germline	Chr2:219420154	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital diaphragmatic hernia Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy, Dominant Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Cardiomyopathy Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA133860	rs_41272699	24 SubmittersRCV000037245 RCV000056805 RCV000203295 RCV000239721 RCV000250294 RCV000263666 RCV000313133 RCV000367823 RCV001083932 RCV001171067 RCV005400420
NM_001927.4(DES):c.642C>T (p.Asp214=)	SNV Germline	Chr2:219420253	Conflicting classifications of pathogenicity	not specified Neurogenic scapuloperoneal syndrome, Kaeser type Cardiovascular phenotype Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA133863	rs_370239228	8 SubmittersRCV000037246 RCV001142276 RCV002362627 RCV000726210 RCV001085258 RCV001142275
NM_001927.4(DES):c.735+1G>A	SNV Germline	Chr2:219420347	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA261522	rs_397516698	4 SubmittersRCV000393713 RCV001220792
NM_001927.4(DES):c.785A>T (p.Glu262Val)	SNV Germline	Chr2:219420544	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype Cardiomyopathy DES-related disorder	Criteria Provided Conflicting Classifications	CA133873	rs_147327878	14 SubmittersRCV000037252 RCV000711441 RCV001081604 RCV002408512 RCV003486561 RCV003944906
NM_001927.4(DES):c.934G>A (p.Asp312Asn)	SNV Germline	Chr2:219420864	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Primary dilated cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type not specified	Criteria Provided Conflicting Classifications	CA133883	rs_34337334	17 SubmittersRCV000056815 RCV000245347 RCV000770171 RCV000475003 RCV001137622 RCV001137623 RCV001293064 RCV002265577 RCV005406772
NM_001927.4(DES):c.935A>C (p.Asp312Ala)	SNV Germline	Chr2:219420865	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Desmin-related myofibrillar myopathy Condition: not provided DES-related disorder	Criteria Provided Conflicting Classifications	CA133886	rs_148947510	10 SubmittersRCV000037258 RCV000243219 RCV001085666 RCV000725547 RCV003914934
NM_001927.4(DES):c.1289-2A>G	SNV Germline	Chr2:219425661	Pathogenic/Likely pathogenic	Abnormality of the musculature Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA144512	rs_398122940	4 SubmittersRCV001814034 RCV001781382 RCV002265587
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	SNV Germline	Chr2:219420943	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA216999	rs_57496341	3 SubmittersRCV000056763 RCV000796175
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	SNV Germline	Chr2:219421340	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA217001	rs_267607482	5 SubmittersRCV000056764 RCV001380949
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)	SNV Germline	Chr2:219421380	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA217005	rs_61368398	5 SubmittersRCV000056768 RCV000799745
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	SNV Germline	Chr2:219421425	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217018	rs_59308628	4 SubmittersRCV000056773 RCV001043598
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)	SNV Germline	Chr2:219421511	Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA217032	rs_61130669	2 SubmittersRCV000056779 RCV002265588
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	SNV Germline	Chr2:219421517	Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA284671	rs_57694264	2 SubmittersRCV000056780 RCV001064294
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	SNV Germline	Chr2:219421553	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA284673	rs_61726467	3 SubmittersRCV000056782 RCV000685786
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	SNV Germline	Chr2:219425720	Pathogenic/Likely pathogenic	Condition: not provided Myofibrillar myopathy Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217038	rs_267607485	7 SubmittersRCV000056786 RCV000239724 RCV001854166
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)	SNV Germline	Chr2:219425732	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA217040	rs_267607488	5 SubmittersRCV000056788 RCV001854167
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	SNV Germline	Chr2:219425734	Pathogenic/Likely pathogenic	Condition: not provided Primary familial hypertrophic cardiomyopathy Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy Neuromuscular disease Primary dilated cardiomyopathy Cardiovascular phenotype Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217043	rs_267607490	15 SubmittersRCV000056789 RCV000155027 RCV000684771 RCV000498999 RCV000844627 RCV002381360 RCV004795992
NM_001927.4(DES):c.322G>A (p.Glu108Lys)	SNV Germline	Chr2:219418784	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA217060	rs_62636490	6 SubmittersRCV000056796 RCV001232668 RCV002504955 RCV004018986
NM_001927.4(DES):c.347A>G (p.Asn116Ser)	SNV Germline	Chr2:219418809	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type	Criteria Provided Multiple Submitters No Conflicts	CA217067	rs_267607499	4 SubmittersRCV000056799 RCV001384253 RCV004767051
NM_001927.4(DES):c.35C>T (p.Ser12Phe)	SNV Germline	Chr2:219418497	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Neuromuscular disease Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217069	rs_267607495	6 SubmittersRCV000056800 RCV000154600 RCV001061421
NM_001927.4(DES):c.5G>T (p.Ser2Ile)	SNV Germline	Chr2:219418467	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA217078	rs_58999456	4 SubmittersRCV000056804 RCV000794180 RCV004799771
NM_001927.4(DES):c.640-1G>A	SNV Germline	Chr2:219420250	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	No Assertion Criteria Provided	CA217080	rs_267607484	2 SubmittersRCV000056806 RCV002265589
NM_001927.4(DES):c.735+3A>G	SNV Germline	Chr2:219420349	Pathogenic	Condition: not provided Primary dilated cardiomyopathy Desmin-related myofibrillar myopathy Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA217084	rs_267607483	7 SubmittersRCV000056810 RCV000154574 RCV001233592 RCV002381361
NM_001927.4(DES):c.735G>C (p.Glu245Asp)	SNV Germline	Chr2:219420346	Pathogenic/Likely pathogenic	Condition: not provided Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA217085	rs_267607486	5 SubmittersRCV000056811 RCV002226454 RCV002265590
NM_001927.4(DES):c.821T>C (p.Leu274Pro)	SNV Germline	Chr2:219420580	Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA217087	rs_267607494	2 SubmittersRCV000056812 RCV004776428
NM_001927.4(DES):c.821T>G (p.Leu274Arg)	SNV Germline	Chr2:219420580	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA217090	rs_267607494	3 SubmittersRCV000056813 RCV005237492
NM_001927.4(DES):c.893C>T (p.Ser298Leu)	SNV Germline	Chr2:219420652	Conflicting classifications of pathogenicity	Condition: not provided Primary dilated cardiomyopathy Desmin-related myofibrillar myopathy Cardiomyopathy Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA217093	rs_62636491	11 SubmittersRCV000056814 RCV000171830 RCV000466593 RCV000735983 RCV001143228 RCV001142372 RCV003352761
NM_001927.4(DES):c.665G>A (p.Arg222His)	SNV Germline	Chr2:219420276	Conflicting classifications of pathogenicity	not specified Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Myofibrillar Myopathy, Dominant Cardiovascular phenotype Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA181192	rs_367961979	13 SubmittersRCV000154697 RCV000324508 RCV000540698 RCV000260200 RCV000379116 RCV002362813 RCV001657879 RCV003483525
NM_001927.4(DES):c.250G>A (p.Gly84Ser)	SNV Germline	Chr2:219418712	Conflicting classifications of pathogenicity	not specified Desmin-related myofibrillar myopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA175620	rs_200545412	11 SubmittersRCV000150379 RCV000474215 RCV000724983 RCV002426711
NM_001927.4(DES):c.635G>A (p.Arg212Gln)	SNV Germline	Chr2:219420151	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Myofibrillar Myopathy, Dominant Condition: not provided Cardiomyopathy Cardiovascular phenotype See cases Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA181189	rs_144261171	15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001798502 RCV002362812 RCV001264391 RCV005359329
NM_001927.4(DES):c.735+1G>C	SNV Germline	Chr2:219420347	Pathogenic/Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA273134	rs_397516698	3 SubmittersRCV002265627
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	SNV Germline	Chr2:219423817	Pathogenic/Likely pathogenic	Desmin-related myofibrillar myopathy Primary dilated cardiomyopathy Neuromuscular disease Condition: not provided Desmin-related myofibrillar myopathy Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA273504	rs_150974575	8 SubmittersRCV000154519 RCV000327525 RCV001059931 RCV002469028
NM_001927.4(DES):c.237G>A (p.Thr79=)	SNV Germline	Chr2:219418699	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA233899	rs_727503899	2 SubmittersRCV000153149 RCV002056029
NM_001927.4(DES):c.216C>A (p.Ser72Arg)	SNV Germline	Chr2:219418678	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided not specified Neurogenic scapuloperoneal syndrome, Kaeser type Cardiomyopathy Cardiovascular phenotype Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type	Criteria Provided Conflicting Classifications	CA238726	rs_375719734	11 SubmittersRCV000463940 RCV000710118 RCV001706118 RCV001330866 RCV001798625 RCV002426827 RCV002265658
NM_001927.4(DES):c.1372-8C>T	SNV Germline	Chr2:219425941	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy not specified	Criteria Provided Conflicting Classifications	CA248072	rs_794727968	3 SubmittersRCV000180580 RCV003765107 RCV005404338
NM_001927.4(DES):c.358G>C (p.Ala120Pro)	SNV Germline	Chr2:219418820	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA308328	rs_794728996	2 SubmittersRCV000183377 RCV001852352
NM_001927.4(DES):c.634C>T (p.Arg212Ter)	SNV Germline	Chr2:219420150	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA308316	rs_781590560	4 SubmittersRCV000183373 RCV001380936 RCV002478626 RCV004020211
NM_001927.4(DES):c.832C>T (p.Arg278Trp)	SNV Germline	Chr2:219420591	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308263	rs_794728985	3 SubmittersRCV000183349 RCV000693194 RCV002433812
NM_001927.4(DES):c.883T>G (p.Trp295Gly)	SNV Germline	Chr2:219420642	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA308266	rs_794728986	2 SubmittersRCV000183350 RCV001337313
NM_001927.4(DES):c.976C>T (p.His326Tyr)	SNV Germline	Chr2:219420906	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA308269	rs_794728987	3 SubmittersRCV000183352 RCV000459000 RCV001798637
NM_001927.4(DES):c.1371+1G>A	SNV Germline	Chr2:219425746	Conflicting classifications of pathogenicity	Condition: not provided not specified Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308296	rs_748323823	7 SubmittersRCV000183362 RCV000223904 RCV000458158 RCV000622142
NM_001927.4(DES):c.1412A>C (p.Ter471Ser)	SNV Germline	Chr2:219425989	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA308298	rs_794728991	2 SubmittersRCV000183364 RCV005213227
NM_001927.4(DES):c.643G>A (p.Val215Met)	SNV Germline	Chr2:219420254	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Desmin-related myofibrillar myopathy Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1I not specified Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type DES-related disorder	Criteria Provided Conflicting Classifications	CA078107	rs_144908941	11 SubmittersRCV000208223 RCV000651548 RCV000620253 RCV000725602 RCV002467674 RCV003330581 RCV002485357 RCV003390956
NM_001927.4(DES):c.347A>T (p.Asn116Ile)	SNV Germline	Chr2:219418809	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy not specified	Criteria Provided Conflicting Classifications	CA10576588	rs_267607499	2 SubmittersRCV000651544 RCV000217696
NM_001927.4(DES):c.404C>T (p.Ala135Val)	SNV Germline	Chr2:219418866	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125063	rs_546741834	9 SubmittersRCV000217198 RCV000725598 RCV001079455 RCV002321829
NM_001927.4(DES):c.656C>T (p.Thr219Ile)	SNV Germline	Chr2:219420267	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125118	rs_144901249	9 SubmittersRCV000217963 RCV000726722 RCV001084978 RCV000770168 RCV002363072
NM_001927.4(DES):c.1353C>T (p.Ile451=)	SNV Germline	Chr2:219425727	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Desmin-related myofibrillar myopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA2125305	rs_121913002	9 SubmittersRCV000219399 RCV000725063 RCV000252451 RCV001085732 RCV001798700
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	SNV Germline	Chr2:219420943	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA10581950	rs_57496341	1 SubmittersRCV000227930
NM_001927.4(DES):c.407T>C (p.Leu136Pro)	SNV Germline	Chr2:219418869	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA350685955	rs_397516695	5 SubmittersRCV000491641 RCV001701986 RCV005222860
NM_001927.4(DES):c.735G>A (p.Glu245=)	SNV Germline	Chr2:219420346	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10603828	rs_267607486	5 SubmittersRCV000489159 RCV001321146 RCV005328233
NM_001927.4(DES):c.210G>C (p.Arg70=)	SNV Germline	Chr2:219418672	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10604110	rs_761255472	3 SubmittersRCV000302897 RCV000725053 RCV002059102
NM_001927.4(DES):c.924C>T (p.Asn308=)	SNV Germline	Chr2:219420854	Conflicting classifications of pathogenicity	Neurogenic scapuloperoneal syndrome, Kaeser type not specified Dilated cardiomyopathy 1I Myofibrillar Myopathy, Dominant Desmin-related myofibrillar myopathy Condition: not provided Cardiovascular phenotype DES-related disorder	Criteria Provided Conflicting Classifications	CA2125188	rs_578191306	10 SubmittersRCV000264452 RCV000265821 RCV000328732 RCV000383286 RCV001088971 RCV000725277 RCV002374459 RCV003939974
NM_001927.4(DES):c.373A>T (p.Lys125Ter)	SNV Germline	Chr2:219418835	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA10604977	rs_886043000	2 SubmittersRCV000261318 RCV000700283
NM_001927.4(DES):c.822C>T (p.Leu274=)	SNV Germline	Chr2:219420581	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125160	rs_763599850	3 SubmittersRCV000292844 RCV001078951 RCV002429223
NM_001927.4(DES):c.1158C>T (p.Arg386=)	SNV Germline	Chr2:219421474	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125250	rs_774323736	7 SubmittersRCV000651545 RCV000725757 RCV001171070 RCV002365317
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)	SNV Germline	Chr2:219423788	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10605881	rs_796667045	2 SubmittersRCV000287300 RCV003765652
NM_001927.4(DES):c.708C>T (p.Ile236=)	SNV Germline	Chr2:219420319	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10606321	rs_886044078	3 SubmittersRCV000339337 RCV000617379 RCV001431773
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)	SNV Germline	Chr2:219425988	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10606626	rs_886044329	2 SubmittersRCV000296486 RCV000810748
NM_001927.4(DES):c.1180G>A (p.Val394Met)	SNV Germline	Chr2:219421496	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Desmin-related myofibrillar myopathy Cardiovascular phenotype DES-related disorder	Criteria Provided Conflicting Classifications	CA2125253	rs_776786349	6 SubmittersRCV000335144 RCV001171071 RCV001441657 RCV003352824 RCV004742370
NM_001927.4(DES):c.768A>G (p.Glu256=)	SNV Germline	Chr2:219420527	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10606731	rs_886044420	2 SubmittersRCV000405432 RCV005213258
NM_001927.4(DES):c.*198G>A	SNV Germline	Chr2:219426188	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Myofibrillar Myopathy, Dominant Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10612866	rs_560055588	1 SubmittersRCV000276898 RCV000333057 RCV000369044 RCV002265738
NM_001927.4(DES):c.*559G>A	SNV Germline	Chr2:219426549	Conflicting classifications of pathogenicity	Myofibrillar Myopathy, Dominant Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA10614232	rs_547498920	1 SubmittersRCV000311255 RCV000307082 RCV000371046 RCV002265742
NM_001927.4(DES):c.898-5C>T	SNV Germline	Chr2:219420823	Conflicting classifications of pathogenicity	not specified Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16604128	rs_371053066	3 SubmittersRCV000440557 RCV001462740 RCV004022364
NM_001927.4(DES):c.1257C>T (p.Pro419=)	SNV Germline	Chr2:219423789	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype DES-related disorder	Criteria Provided Conflicting Classifications	CA2125278	rs_143154982	6 SubmittersRCV000424202 RCV000726966 RCV000558527 RCV002418290 RCV003912701
NM_001927.4(DES):c.63C>T (p.Ala21=)	SNV Germline	Chr2:219418525	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125011	rs_201458068	4 SubmittersRCV000726631 RCV001086977 RCV004609376
NM_001927.4(DES):c.1A>G (p.Met1Val)	SNV Germline	Chr2:219418463	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16604392	rs_1057523274	4 SubmittersRCV000417495 RCV001217218 RCV004609380
NM_001927.4(DES):c.394C>T (p.Gln132Ter)	SNV Germline	Chr2:219418856	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA16610670	rs_1060503165	1 SubmittersRCV001380227
NM_001927.4(DES):c.679C>T (p.Arg227Cys)	SNV Germline	Chr2:219420290	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Condition: not provided	Criteria Provided Conflicting Classifications	CA2125125	rs_767743962	3 SubmittersRCV000468464 RCV001809412 RCV004719831
NM_001927.4(DES):c.130G>A (p.Gly44Ser)	SNV Germline	Chr2:219418592	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA16617477	rs_1064794869	2 SubmittersRCV000478404 RCV003766688
NM_001927.4(DES):c.736-8C>A	SNV Germline	Chr2:219420487	Conflicting classifications of pathogenicity	not specified Condition: not provided Desmin-related myofibrillar myopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA2125152	rs_140375681	7 SubmittersRCV000482297 RCV000711440 RCV001088745 RCV003150237
NM_001927.4(DES):c.1050G>A (p.Arg350=)	SNV Germline	Chr2:219421366	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125231	rs_769505280	3 SubmittersRCV000591558 RCV001495092 RCV005328326
NM_001927.4(DES):c.1148G>A (p.Arg383His)	SNV Germline	Chr2:219421464	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype Dilated cardiomyopathy 1I Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type	Criteria Provided Conflicting Classifications	CA350694581	rs_1292042317	7 SubmittersRCV000596564 RCV001071277 RCV002456298 RCV003388837 RCV002476290
NM_001927.4(DES):c.229A>G (p.Thr77Ala)	SNV Germline	Chr2:219418691	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type not specified	Criteria Provided Conflicting Classifications	CA2125045	rs_769034192	6 SubmittersRCV000591625 RCV001046462 RCV002456300 RCV002491191 RCV004800482
NM_001927.4(DES):c.218G>A (p.Arg73Gln)	SNV Germline	Chr2:219418680	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2125038	rs_752518966	5 SubmittersRCV000592338 RCV000707403 RCV002431751
NM_001927.4(DES):c.999C>T (p.Cys333=)	SNV Germline	Chr2:219420929	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA431428180	rs_1157722667	3 SubmittersRCV000705592 RCV001288588
NM_001927.4(DES):c.1024-3C>A	SNV Germline	Chr2:219421337	Conflicting classifications of pathogenicity	not specified Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA658796175	rs_1553603530	3 SubmittersRCV000605073 RCV000819113 RCV003338687
NM_001927.4(DES):c.985C>T (p.Gln329Ter)	SNV Germline	Chr2:219420915	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA2125199	rs_759320891	6 SubmittersRCV002223889 RCV002265821 RCV002385957 RCV002531873
NM_001927.4(DES):c.1151A>G (p.His384Arg)	SNV Germline	Chr2:219421467	Likely pathogenic	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I	Criteria Provided Multiple Submitters No Conflicts	CA350694607	rs_1553603566	3 SubmittersRCV002265824 RCV004002755 RCV005621986
NM_001927.4(DES):c.735+1G>T	SNV Germline	Chr2:219420347	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350690693	rs_397516698	1 SubmittersRCV000700903
NM_001927.4(DES):c.514C>T (p.Gln172Ter)	SNV Germline	Chr2:219418976	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350686786	rs_1559352440	1 SubmittersRCV000697545
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)	SNV Germline	Chr2:219421359	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350693785	rs_1411703397	2 SubmittersRCV002265873
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)	SNV Germline	Chr2:219421379	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1I Condition: not provided Cardiovascular phenotype Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA2125233	rs_762808690	4 SubmittersRCV000755704 RCV001784366 RCV002406675 RCV004017725
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)	SNV Germline	Chr2:219418827	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA350685550	rs_1400593451	4 SubmittersRCV000757150 RCV000852535 RCV001171066 RCV001855888
NM_001927.4(DES):c.516G>A (p.Gln172=)	SNV Germline	Chr2:219418978	Conflicting classifications of pathogenicity	Cardiomyopathy Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA65981284	rs_1014762661	3 SubmittersRCV000770166 RCV002067214 RCV002334432
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	SNV Germline	Chr2:219421553	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350695103	rs_61726467	1 SubmittersRCV000792525
NM_001927.4(DES):c.1288+1G>A	SNV Germline	Chr2:219423821	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Cardiovascular phenotype Condition: not provided Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA2125287	rs_112224037	5 SubmittersRCV000792330 RCV002386378 RCV002462138 RCV002507362 RCV004789189
NM_001927.4(DES):c.322G>T (p.Glu108Ter)	SNV Germline	Chr2:219418784	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type	Criteria Provided Multiple Submitters No Conflicts	CA350685213	rs_62636490	4 SubmittersRCV000991885 RCV001047253 RCV002489466
NM_001927.4(DES):c.465C>T (p.Tyr155=)	SNV Germline	Chr2:219418927	Conflicting classifications of pathogenicity	Condition: not provided Desmin-related myofibrillar myopathy not specified	Criteria Provided Conflicting Classifications	CA431427848	rs_1458306248	3 SubmittersRCV000997672 RCV002550712 RCV005405478
NM_001927.4(DES):c.7C>T (p.Gln3Ter)	SNV Germline	Chr2:219418469	Pathogenic/Likely pathogenic	Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350681964	rs_1954358233	2 SubmittersRCV001037267 RCV003490014
NM_001927.4(DES):c.973C>T (p.Arg325Ter)	SNV Germline	Chr2:219420903	Pathogenic/Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA350692951	rs_959034410	3 SubmittersRCV001092431 RCV001382898
NM_001927.4(DES):c.*51C>A	SNV Germline	Chr2:219426041	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA2125328	rs_372291142	1 SubmittersRCV001142495 RCV001142496 RCV002265951
NM_001927.4(DES):c.*112C>G	SNV Germline	Chr2:219426102	Conflicting classifications of pathogenicity	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA65987360	rs_540351476	1 SubmittersRCV001142500 RCV001142499 RCV002265952
NM_001927.4(DES):c.*308C>A	SNV Germline	Chr2:219426298	Conflicting classifications of pathogenicity	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA65987447	rs_140222667	1 SubmittersRCV001140732 RCV001140733 RCV002265950
NM_001927.4(DES):c.735+11G>A	SNV Germline	Chr2:219420357	Conflicting classifications of pathogenicity	Neurogenic scapuloperoneal syndrome, Kaeser type Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA1139655712	rs_1559352868	2 SubmittersRCV001139746 RCV001139745 RCV002070661
NM_001927.4(DES):c.854C>T (p.Ala285Val)	SNV Germline	Chr2:219420613	Likely pathogenic	Cardiomyopathy Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350691558	rs_1368507241	3 SubmittersRCV001171068 RCV001873578 RCV004794495
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)	SNV Germline	Chr2:219421371	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA2125232	rs_775085773	1 SubmittersRCV001218064
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)	SNV Germline	Chr2:219421518	Likely pathogenic	Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA350694957	rs_1954444202	2 SubmittersRCV001245293 RCV005328655
NM_001927.4(DES):c.37T>C (p.Ser13Pro)	SNV Germline	Chr2:219418499	Conflicting classifications of pathogenicity	Cardiovascular phenotype Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA350682267	rs_1954359599	2 SubmittersRCV003166680 RCV001299265
NM_001927.4(DES):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:219418464	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350681909	rs_2125165615	1 SubmittersRCV001377481
NM_001927.4(DES):c.885G>A (p.Trp295Ter)	SNV Germline	Chr2:219420644	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA65982808	rs_146755676	5 SubmittersRCV001383569 RCV002224082 RCV002476724 RCV005330786
NM_001927.4(DES):c.757C>T (p.Gln253Ter)	SNV Germline	Chr2:219420516	Pathogenic	Condition: not provided Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA350690834	rs_1187516594	2 SubmittersRCV003442532 RCV003992771
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)	SNV Germline	Chr2:219421519	Pathogenic/Likely pathogenic	Cardiovascular phenotype Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA350694961	rs_2125168897	2 SubmittersRCV002343849 RCV002541189
NM_001927.4(DES):c.700G>T (p.Glu234Ter)	SNV Germline	Chr2:219420311	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350690505	rs_774739275	1 SubmittersRCV002266017
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)	SNV Germline	Chr2:219421406	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350694122	rs_1224165687	1 SubmittersRCV001960550
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)	SNV Germline	Chr2:219421530	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350695004	rs_2125168913	1 SubmittersRCV002010793
NM_001927.4(DES):c.599T>A (p.Leu200Ter)	SNV Germline	Chr2:219420115	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350689790	rs_2125167364	1 SubmittersRCV001926904
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)	SNV Germline	Chr2:219421446	Likely pathogenic	Desmin-related myofibrillar myopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type	Criteria Provided Multiple Submitters No Conflicts	CA350694440	rs_1432061016	2 SubmittersRCV001975552 RCV005409859
NM_001927.4(DES):c.300G>A (p.Glu100=)	SNV Germline	Chr2:219418762	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA431427465	rs_1339030541	2 SubmittersRCV002101449 RCV003319507
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)	SNV Germline	Chr2:178568639	Likely pathogenic	Desmin-related myofibrillar myopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA1989764	rs_760625258	2 SubmittersRCV002466287 RCV002337425
NM_001267550.2(TTN):c.57545-2A>G	SNV Germline	Chr2:178595811	Pathogenic/Likely pathogenic	Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA1993025	rs_747068091	2 SubmittersRCV002466288 RCV003774891
NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter)	SNV Germline	Chr2:178685271	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA349547838	rs_974953849	1 SubmittersRCV002466294
NM_001927.4(DES):c.735+2T>G	SNV Germline	Chr2:219420348	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350690699	rs_949187421	1 SubmittersRCV002283933
NM_001927.4(DES):c.1372-6C>T	SNV Germline	Chr2:219425943	Conflicting classifications of pathogenicity	Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA2580065934	rs_2545264703	2 SubmittersRCV002598697 RCV003435876
NM_001927.4(DES):c.343C>A (p.Leu115Ile)	SNV Germline	Chr2:219418805	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350685384	rs_1954372352	1 SubmittersRCV003084860
NM_001927.4(DES):c.1244+1G>A	SNV Germline	Chr2:219421561	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350695138	rs_2545255549	1 SubmittersRCV002953882
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)	SNV Germline	Chr2:219421533	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350695020	rs_1057520275	1 SubmittersRCV003042121
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)	SNV Germline	Chr2:219421520	Conflicting classifications of pathogenicity	Cardiomyopathy Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA350694968	rs_2545255397	2 SubmittersRCV003150751 RCV003778901
NM_001927.4(DES):c.736G>A (p.Glu246Lys)	SNV Germline	Chr2:219420495	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1I Desmin-related myofibrillar myopathy	Criteria Provided Conflicting Classifications	CA2125153	rs_144057476	2 SubmittersRCV003315214 RCV003777288
NM_001927.4(DES):c.578+2T>C	SNV Germline	Chr2:219419042	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004690462
NM_001927.4(DES):c.163C>T (p.Gln55Ter)	SNV Germline	Chr2:219418625	Pathogenic/Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Multiple Submitters No Conflicts	CA350683513	rs_1954365477	2 SubmittersRCV003792422
NM_001927.4(DES):c.769C>T (p.Gln257Ter)	SNV Germline	Chr2:219420528	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350690933	rs_1269819085	1 SubmittersRCV003792546
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)	SNV Germline	Chr2:219418711	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350684471	rs_2125166116	1 SubmittersRCV003794535
NM_001927.4(DES):c.579-2A>C	SNV Germline	Chr2:219420093	Likely pathogenic	Desmin-related myofibrillar myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350689607	rs_2545250765	2 SubmittersRCV003809488 RCV004719394
NM_001927.4(DES):c.1396C>T (p.Gln466Ter)	SNV Germline	Chr2:219425973	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter	CA350699098	rs_2545264805	1 SubmittersRCV004018194
NM_001927.4(DES):c.949G>C (p.Ala317Pro)	SNV Germline	Chr2:219420879	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter		rs_2545253097	1 SubmittersRCV004587620
NM_001927.4(DES):c.3G>A (p.Met1Ile)	SNV Germline	Chr2:219418465	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005225719
NM_001927.4(DES):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr2:219421358	Pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005212418
NM_001927.4(DES):c.821T>A (p.Leu274His)	SNV Germline	Chr2:219420580	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005220056
NM_001927.4(DES):c.2T>G (p.Met1Arg)	SNV Germline	Chr2:219418464	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005228156
NM_001927.4(DES):c.1288+2T>C	SNV Germline	Chr2:219423822	Likely pathogenic	Desmin-related myofibrillar myopathy	Criteria Provided Single Submitter			1 SubmittersRCV005222565

NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

SNV
Germline

Chr2:219420939

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA216997

rs_59962885

6 SubmittersRCV000056762 RCV000856836 RCV002265557

NM_001927.4(DES):c.1078G>C (p.Ala360Pro)

SNV
Germline

Chr2:219421394

Pathogenic

Desmin-related myofibrillar myopathy

No Assertion Criteria Provided

CA257642

rs_121913000

1 SubmittersRCV002265558

NM_001927.4(DES):c.1353C>G (p.Ile451Met)

SNV
Germline

Chr2:219425727

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1I
Condition: not provided
Desmin-related myofibrillar myopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA257644

rs_121913002

12 SubmittersRCV000018318 RCV000056787 RCV000698481 RCV002265561 RCV004018640

NM_001927.4(DES):c.1034T>C (p.Leu345Pro)

SNV
Germline

Chr2:219421350

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217003

rs_57639980

7 SubmittersRCV000056765 RCV001044194

NM_001927.4(DES):c.1216C>T (p.Arg406Trp)

SNV
Germline

Chr2:219421532

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA257646

rs_121913003

13 SubmittersRCV000056781 RCV000627795 RCV001798009 RCV001787806 RCV005540009

NM_001927.4(DES):c.1154T>C (p.Leu385Pro)

SNV
Germline

Chr2:219421470

Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA217023

rs_57955682

3 SubmittersRCV000056775 RCV002265562 RCV005624695

NM_001927.4(DES):c.1166A>C (p.Gln389Pro)

SNV
Germline

Chr2:219421482

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

No Assertion Criteria Provided

CA217025

rs_121913004

2 SubmittersRCV000056776 RCV002265563

NM_001927.4(DES):c.1325C>T (p.Thr442Ile)

SNV
Germline

Chr2:219425699

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217036

rs_121913005

5 SubmittersRCV000056784 RCV000811753

NM_001927.4(DES):c.1049G>C (p.Arg350Pro)

SNV
Germline

Chr2:219421365

Pathogenic

Neurogenic scapuloperoneal syndrome, Kaeser type
Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA126906

rs_57965306

7 SubmittersRCV000018329 RCV000056767 RCV000651542

NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)

SNV
Germline

Chr7:128835550

Pathogenic/Likely pathogenic

Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy 26
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Hypertrophic cardiomyopathy 26
Desmin-related myofibrillar myopathy
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA128479

rs_387906587

9 SubmittersRCV000022429 RCV001384941 RCV001535684 RCV004555848 RCV000442836 RCV000600715

NM_001927.4(DES):c.1255C>T (p.Pro419Ser)

SNV
Germline

Chr2:219423787

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA217034

rs_62635763

7 SubmittersRCV000056783 RCV000817811 RCV005549906

NM_001927.4(DES):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr2:219421364

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary dilated cardiomyopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Cardiomyopathy
Cardiovascular phenotype
DES-related disorder

Criteria Provided
Conflicting Classifications

CA133808

rs_62636492

12 SubmittersRCV000056766 RCV000037224 RCV000157164 RCV001039932 RCV001250885 RCV003486560 RCV003298065 RCV003398603

NM_001927.4(DES):c.1366G>A (p.Gly456Arg)

SNV
Germline

Chr2:219425740

Conflicting classifications of pathogenicity

not specified
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA133826

rs_397516690

3 SubmittersRCV000037231 RCV001852772

NM_001927.4(DES):c.1404A>G (p.Glu468=)

SNV
Germline

Chr2:219425981

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133829

rs_397516691

5 SubmittersRCV000037233 RCV000725821 RCV001078786 RCV002390149

NM_001927.4(DES):c.170C>T (p.Ser57Leu)

SNV
Germline

Chr2:219418632

Conflicting classifications of pathogenicity

not specified
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Condition: not provided
Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I

Criteria Provided
Conflicting Classifications

CA133832

rs_372825868

15 SubmittersRCV000037234 RCV000547047 RCV000621896 RCV000586931 RCV001142158 RCV001142159

NM_001927.4(DES):c.18G>A (p.Ser6=)

SNV
Germline

Chr2:219418480

Conflicting classifications of pathogenicity

not specified
Myofibrillar Myopathy, Dominant
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiomyopathy
Dilated cardiomyopathy 1I
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133835

rs_199972656

12 SubmittersRCV000037235 RCV000340575 RCV000405735 RCV000769153 RCV000334781 RCV000724222 RCV001081339 RCV002408511

NM_001927.4(DES):c.193G>A (p.Gly65Ser)

SNV
Germline

Chr2:219418655

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA133838

rs_397516692

9 SubmittersRCV000037236 RCV000515205 RCV000724220 RCV000805979 RCV001137423 RCV001137421 RCV004018830

NM_001927.4(DES):c.380G>C (p.Arg127Pro)

SNV
Germline

Chr2:219418842

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA133847

rs_397516694

4 SubmittersRCV000037239 RCV000183371 RCV000547988 RCV000852536

NM_001927.4(DES):c.38C>T (p.Ser13Phe)

SNV
Germline

Chr2:219418500

Pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261520

rs_62636495

10 SubmittersRCV000037240 RCV000056801 RCV001389153

NM_001927.4(DES):c.638C>T (p.Ala213Val)

SNV
Germline

Chr2:219420154

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital diaphragmatic hernia
Myofibrillar myopathy
Cardiovascular phenotype
Myofibrillar Myopathy, Dominant
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Cardiomyopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I

Criteria Provided
Conflicting Classifications

CA133860

rs_41272699

24 SubmittersRCV000037245 RCV000056805 RCV000203295 RCV000239721 RCV000250294 RCV000263666 RCV000313133 RCV000367823 RCV001083932 RCV001171067 RCV005400420

NM_001927.4(DES):c.642C>T (p.Asp214=)

SNV
Germline

Chr2:219420253

Conflicting classifications of pathogenicity

not specified
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiovascular phenotype
Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I

Criteria Provided
Conflicting Classifications

CA133863

rs_370239228

8 SubmittersRCV000037246 RCV001142276 RCV002362627 RCV000726210 RCV001085258 RCV001142275

NM_001927.4(DES):c.735+1G>A

SNV
Germline

Chr2:219420347

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261522

rs_397516698

4 SubmittersRCV000393713 RCV001220792

NM_001927.4(DES):c.785A>T (p.Glu262Val)

SNV
Germline

Chr2:219420544

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Cardiomyopathy
DES-related disorder

Criteria Provided
Conflicting Classifications

CA133873

rs_147327878

14 SubmittersRCV000037252 RCV000711441 RCV001081604 RCV002408512 RCV003486561 RCV003944906

NM_001927.4(DES):c.934G>A (p.Asp312Asn)

SNV
Germline

Chr2:219420864

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Primary dilated cardiomyopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
not specified

Criteria Provided
Conflicting Classifications

CA133883

rs_34337334

17 SubmittersRCV000056815 RCV000245347 RCV000770171 RCV000475003 RCV001137622 RCV001137623 RCV001293064 RCV002265577 RCV005406772

NM_001927.4(DES):c.935A>C (p.Asp312Ala)

SNV
Germline

Chr2:219420865

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Desmin-related myofibrillar myopathy
Condition: not provided
DES-related disorder

Criteria Provided
Conflicting Classifications

CA133886

rs_148947510

10 SubmittersRCV000037258 RCV000243219 RCV001085666 RCV000725547 RCV003914934

NM_001927.4(DES):c.1289-2A>G

SNV
Germline

Chr2:219425661

Pathogenic/Likely pathogenic

Abnormality of the musculature
Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA144512

rs_398122940

4 SubmittersRCV001814034 RCV001781382 RCV002265587

NM_001927.4(DES):c.1013T>G (p.Leu338Arg)

SNV
Germline

Chr2:219420943

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA216999

rs_57496341

3 SubmittersRCV000056763 RCV000796175

NM_001927.4(DES):c.1024A>G (p.Asn342Asp)

SNV
Germline

Chr2:219421340

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA217001

rs_267607482

5 SubmittersRCV000056764 RCV001380949

NM_001927.4(DES):c.1064G>C (p.Arg355Pro)

SNV
Germline

Chr2:219421380

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA217005

rs_61368398

5 SubmittersRCV000056768 RCV000799745

NM_001927.4(DES):c.1109T>C (p.Leu370Pro)

SNV
Germline

Chr2:219421425

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217018

rs_59308628

4 SubmittersRCV000056773 RCV001043598

NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)

SNV
Germline

Chr2:219421511

Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA217032

rs_61130669

2 SubmittersRCV000056779 RCV002265588

NM_001927.4(DES):c.1201G>A (p.Glu401Lys)

SNV
Germline

Chr2:219421517

Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA284671

rs_57694264

2 SubmittersRCV000056780 RCV001064294

NM_001927.4(DES):c.1237G>A (p.Glu413Lys)

SNV
Germline

Chr2:219421553

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA284673

rs_61726467

3 SubmittersRCV000056782 RCV000685786

NM_001927.4(DES):c.1346A>C (p.Lys449Thr)

SNV
Germline

Chr2:219425720

Pathogenic/Likely pathogenic

Condition: not provided
Myofibrillar myopathy
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217038

rs_267607485

7 SubmittersRCV000056786 RCV000239724 RCV001854166

NM_001927.4(DES):c.1358C>T (p.Thr453Ile)

SNV
Germline

Chr2:219425732

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA217040

rs_267607488

5 SubmittersRCV000056788 RCV001854167

NM_001927.4(DES):c.1360C>T (p.Arg454Trp)

SNV
Germline

Chr2:219425734

Pathogenic/Likely pathogenic

Condition: not provided
Primary familial hypertrophic cardiomyopathy
Desmin-related myofibrillar myopathy
Primary dilated cardiomyopathy
Neuromuscular disease
Primary dilated cardiomyopathy
Cardiovascular phenotype
Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217043

rs_267607490

15 SubmittersRCV000056789 RCV000155027 RCV000684771 RCV000498999 RCV000844627 RCV002381360 RCV004795992

NM_001927.4(DES):c.322G>A (p.Glu108Lys)

SNV
Germline

Chr2:219418784

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA217060

rs_62636490

6 SubmittersRCV000056796 RCV001232668 RCV002504955 RCV004018986

NM_001927.4(DES):c.347A>G (p.Asn116Ser)

SNV
Germline

Chr2:219418809

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type

Criteria Provided
Multiple Submitters
No Conflicts

CA217067

rs_267607499

4 SubmittersRCV000056799 RCV001384253 RCV004767051

NM_001927.4(DES):c.35C>T (p.Ser12Phe)

SNV
Germline

Chr2:219418497

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Neuromuscular disease
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217069

rs_267607495

6 SubmittersRCV000056800 RCV000154600 RCV001061421

NM_001927.4(DES):c.5G>T (p.Ser2Ile)

SNV
Germline

Chr2:219418467

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217078

rs_58999456

4 SubmittersRCV000056804 RCV000794180 RCV004799771

NM_001927.4(DES):c.640-1G>A

SNV
Germline

Chr2:219420250

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

No Assertion Criteria Provided

CA217080

rs_267607484

2 SubmittersRCV000056806 RCV002265589

NM_001927.4(DES):c.735+3A>G

SNV
Germline

Chr2:219420349

Pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Desmin-related myofibrillar myopathy
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA217084

rs_267607483

7 SubmittersRCV000056810 RCV000154574 RCV001233592 RCV002381361

NM_001927.4(DES):c.735G>C (p.Glu245Asp)

SNV
Germline

Chr2:219420346

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA217085

rs_267607486

5 SubmittersRCV000056811 RCV002226454 RCV002265590

NM_001927.4(DES):c.821T>C (p.Leu274Pro)

SNV
Germline

Chr2:219420580

Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA217087

rs_267607494

2 SubmittersRCV000056812 RCV004776428

NM_001927.4(DES):c.821T>G (p.Leu274Arg)

SNV
Germline

Chr2:219420580

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA217090

rs_267607494

3 SubmittersRCV000056813 RCV005237492

NM_001927.4(DES):c.893C>T (p.Ser298Leu)

SNV
Germline

Chr2:219420652

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Desmin-related myofibrillar myopathy
Cardiomyopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA217093

rs_62636491

11 SubmittersRCV000056814 RCV000171830 RCV000466593 RCV000735983 RCV001143228 RCV001142372 RCV003352761

NM_001927.4(DES):c.665G>A (p.Arg222His)

SNV
Germline

Chr2:219420276

Conflicting classifications of pathogenicity

not specified
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Myofibrillar Myopathy, Dominant
Cardiovascular phenotype
Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I

Criteria Provided
Conflicting Classifications

CA181192

rs_367961979

13 SubmittersRCV000154697 RCV000324508 RCV000540698 RCV000260200 RCV000379116 RCV002362813 RCV001657879 RCV003483525

NM_001927.4(DES):c.250G>A (p.Gly84Ser)

SNV
Germline

Chr2:219418712

Conflicting classifications of pathogenicity

not specified
Desmin-related myofibrillar myopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA175620

rs_200545412

11 SubmittersRCV000150379 RCV000474215 RCV000724983 RCV002426711

NM_001927.4(DES):c.635G>A (p.Arg212Gln)

SNV
Germline

Chr2:219420151

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Myofibrillar Myopathy, Dominant
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
See cases
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181189

rs_144261171

15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001798502 RCV002362812 RCV001264391 RCV005359329

NM_001927.4(DES):c.735+1G>C

SNV
Germline

Chr2:219420347

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273134

rs_397516698

3 SubmittersRCV002265627

NM_001927.4(DES):c.1285C>T (p.Arg429Ter)

SNV
Germline

Chr2:219423817

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy
Primary dilated cardiomyopathy
Neuromuscular disease
Condition: not provided
Desmin-related myofibrillar myopathy
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273504

rs_150974575

8 SubmittersRCV000154519 RCV000327525 RCV001059931 RCV002469028

NM_001927.4(DES):c.237G>A (p.Thr79=)

SNV
Germline

Chr2:219418699

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA233899

rs_727503899

2 SubmittersRCV000153149 RCV002056029

NM_001927.4(DES):c.216C>A (p.Ser72Arg)

SNV
Germline

Chr2:219418678

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided
not specified
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiomyopathy
Cardiovascular phenotype
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type

Criteria Provided
Conflicting Classifications

CA238726

rs_375719734

11 SubmittersRCV000463940 RCV000710118 RCV001706118 RCV001330866 RCV001798625 RCV002426827 RCV002265658

NM_001927.4(DES):c.1372-8C>T

SNV
Germline

Chr2:219425941

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
not specified

Criteria Provided
Conflicting Classifications

CA248072

rs_794727968

3 SubmittersRCV000180580 RCV003765107 RCV005404338

NM_001927.4(DES):c.358G>C (p.Ala120Pro)

SNV
Germline

Chr2:219418820

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA308328

rs_794728996

2 SubmittersRCV000183377 RCV001852352

NM_001927.4(DES):c.634C>T (p.Arg212Ter)

SNV
Germline

Chr2:219420150

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA308316

rs_781590560

4 SubmittersRCV000183373 RCV001380936 RCV002478626 RCV004020211

NM_001927.4(DES):c.832C>T (p.Arg278Trp)

SNV
Germline

Chr2:219420591

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308263

rs_794728985

3 SubmittersRCV000183349 RCV000693194 RCV002433812

NM_001927.4(DES):c.883T>G (p.Trp295Gly)

SNV
Germline

Chr2:219420642

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA308266

rs_794728986

2 SubmittersRCV000183350 RCV001337313

NM_001927.4(DES):c.976C>T (p.His326Tyr)

SNV
Germline

Chr2:219420906

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA308269

rs_794728987

3 SubmittersRCV000183352 RCV000459000 RCV001798637

NM_001927.4(DES):c.1371+1G>A

SNV
Germline

Chr2:219425746

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308296

rs_748323823

7 SubmittersRCV000183362 RCV000223904 RCV000458158 RCV000622142

NM_001927.4(DES):c.1412A>C (p.Ter471Ser)

SNV
Germline

Chr2:219425989

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA308298

rs_794728991

2 SubmittersRCV000183364 RCV005213227

NM_001927.4(DES):c.643G>A (p.Val215Met)

SNV
Germline

Chr2:219420254

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1I
not specified
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
DES-related disorder

Criteria Provided
Conflicting Classifications

CA078107

rs_144908941

11 SubmittersRCV000208223 RCV000651548 RCV000620253 RCV000725602 RCV002467674 RCV003330581 RCV002485357 RCV003390956

NM_001927.4(DES):c.347A>T (p.Asn116Ile)

SNV
Germline

Chr2:219418809

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
not specified

Criteria Provided
Conflicting Classifications

CA10576588

rs_267607499

2 SubmittersRCV000651544 RCV000217696

NM_001927.4(DES):c.404C>T (p.Ala135Val)

SNV
Germline

Chr2:219418866

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125063

rs_546741834

9 SubmittersRCV000217198 RCV000725598 RCV001079455 RCV002321829

NM_001927.4(DES):c.656C>T (p.Thr219Ile)

SNV
Germline

Chr2:219420267

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125118

rs_144901249

9 SubmittersRCV000217963 RCV000726722 RCV001084978 RCV000770168 RCV002363072

NM_001927.4(DES):c.1353C>T (p.Ile451=)

SNV
Germline

Chr2:219425727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Desmin-related myofibrillar myopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2125305

rs_121913002

9 SubmittersRCV000219399 RCV000725063 RCV000252451 RCV001085732 RCV001798700

NM_001927.4(DES):c.1013T>C (p.Leu338Pro)

SNV
Germline

Chr2:219420943

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA10581950

rs_57496341

1 SubmittersRCV000227930

NM_001927.4(DES):c.407T>C (p.Leu136Pro)

SNV
Germline

Chr2:219418869

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA350685955

rs_397516695

5 SubmittersRCV000491641 RCV001701986 RCV005222860

NM_001927.4(DES):c.735G>A (p.Glu245=)

SNV
Germline

Chr2:219420346

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10603828

rs_267607486

5 SubmittersRCV000489159 RCV001321146 RCV005328233

NM_001927.4(DES):c.210G>C (p.Arg70=)

SNV
Germline

Chr2:219418672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10604110

rs_761255472

3 SubmittersRCV000302897 RCV000725053 RCV002059102

NM_001927.4(DES):c.924C>T (p.Asn308=)

SNV
Germline

Chr2:219420854

Conflicting classifications of pathogenicity

Neurogenic scapuloperoneal syndrome, Kaeser type
not specified
Dilated cardiomyopathy 1I
Myofibrillar Myopathy, Dominant
Desmin-related myofibrillar myopathy
Condition: not provided
Cardiovascular phenotype
DES-related disorder

Criteria Provided
Conflicting Classifications

CA2125188

rs_578191306

10 SubmittersRCV000264452 RCV000265821 RCV000328732 RCV000383286 RCV001088971 RCV000725277 RCV002374459 RCV003939974

NM_001927.4(DES):c.373A>T (p.Lys125Ter)

SNV
Germline

Chr2:219418835

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604977

rs_886043000

2 SubmittersRCV000261318 RCV000700283

NM_001927.4(DES):c.822C>T (p.Leu274=)

SNV
Germline

Chr2:219420581

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125160

rs_763599850

3 SubmittersRCV000292844 RCV001078951 RCV002429223

NM_001927.4(DES):c.1158C>T (p.Arg386=)

SNV
Germline

Chr2:219421474

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125250

rs_774323736

7 SubmittersRCV000651545 RCV000725757 RCV001171070 RCV002365317

NM_001927.4(DES):c.1256C>T (p.Pro419Leu)

SNV
Germline

Chr2:219423788

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10605881

rs_796667045

2 SubmittersRCV000287300 RCV003765652

NM_001927.4(DES):c.708C>T (p.Ile236=)

SNV
Germline

Chr2:219420319

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10606321

rs_886044078

3 SubmittersRCV000339337 RCV000617379 RCV001431773

NM_001927.4(DES):c.1411T>C (p.Ter471Gln)

SNV
Germline

Chr2:219425988

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10606626

rs_886044329

2 SubmittersRCV000296486 RCV000810748

NM_001927.4(DES):c.1180G>A (p.Val394Met)

SNV
Germline

Chr2:219421496

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
DES-related disorder

Criteria Provided
Conflicting Classifications

CA2125253

rs_776786349

6 SubmittersRCV000335144 RCV001171071 RCV001441657 RCV003352824 RCV004742370

NM_001927.4(DES):c.768A>G (p.Glu256=)

SNV
Germline

Chr2:219420527

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10606731

rs_886044420

2 SubmittersRCV000405432 RCV005213258

NM_001927.4(DES):c.*198G>A

SNV
Germline

Chr2:219426188

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Myofibrillar Myopathy, Dominant
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10612866

rs_560055588

1 SubmittersRCV000276898 RCV000333057 RCV000369044 RCV002265738

NM_001927.4(DES):c.*559G>A

SNV
Germline

Chr2:219426549

Conflicting classifications of pathogenicity

Myofibrillar Myopathy, Dominant
Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA10614232

rs_547498920

1 SubmittersRCV000311255 RCV000307082 RCV000371046 RCV002265742

NM_001927.4(DES):c.898-5C>T

SNV
Germline

Chr2:219420823

Conflicting classifications of pathogenicity

not specified
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16604128

rs_371053066

3 SubmittersRCV000440557 RCV001462740 RCV004022364

NM_001927.4(DES):c.1257C>T (p.Pro419=)

SNV
Germline

Chr2:219423789

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
DES-related disorder

Criteria Provided
Conflicting Classifications

CA2125278

rs_143154982

6 SubmittersRCV000424202 RCV000726966 RCV000558527 RCV002418290 RCV003912701

NM_001927.4(DES):c.63C>T (p.Ala21=)

SNV
Germline

Chr2:219418525

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125011

rs_201458068

4 SubmittersRCV000726631 RCV001086977 RCV004609376

NM_001927.4(DES):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:219418463

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16604392

rs_1057523274

4 SubmittersRCV000417495 RCV001217218 RCV004609380

NM_001927.4(DES):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr2:219418856

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA16610670

rs_1060503165

1 SubmittersRCV001380227

NM_001927.4(DES):c.679C>T (p.Arg227Cys)

SNV
Germline

Chr2:219420290

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2125125

rs_767743962

3 SubmittersRCV000468464 RCV001809412 RCV004719831

NM_001927.4(DES):c.130G>A (p.Gly44Ser)

SNV
Germline

Chr2:219418592

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA16617477

rs_1064794869

2 SubmittersRCV000478404 RCV003766688

NM_001927.4(DES):c.736-8C>A

SNV
Germline

Chr2:219420487

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Desmin-related myofibrillar myopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2125152

rs_140375681

7 SubmittersRCV000482297 RCV000711440 RCV001088745 RCV003150237

NM_001927.4(DES):c.1050G>A (p.Arg350=)

SNV
Germline

Chr2:219421366

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125231

rs_769505280

3 SubmittersRCV000591558 RCV001495092 RCV005328326

NM_001927.4(DES):c.1148G>A (p.Arg383His)

SNV
Germline

Chr2:219421464

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1I
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type

Criteria Provided
Conflicting Classifications

CA350694581

rs_1292042317

7 SubmittersRCV000596564 RCV001071277 RCV002456298 RCV003388837 RCV002476290

NM_001927.4(DES):c.229A>G (p.Thr77Ala)

SNV
Germline

Chr2:219418691

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
not specified

Criteria Provided
Conflicting Classifications

CA2125045

rs_769034192

6 SubmittersRCV000591625 RCV001046462 RCV002456300 RCV002491191 RCV004800482

NM_001927.4(DES):c.218G>A (p.Arg73Gln)

SNV
Germline

Chr2:219418680

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2125038

rs_752518966

5 SubmittersRCV000592338 RCV000707403 RCV002431751

NM_001927.4(DES):c.999C>T (p.Cys333=)

SNV
Germline

Chr2:219420929

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431428180

rs_1157722667

3 SubmittersRCV000705592 RCV001288588

NM_001927.4(DES):c.1024-3C>A

SNV
Germline

Chr2:219421337

Conflicting classifications of pathogenicity

not specified
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA658796175

rs_1553603530

3 SubmittersRCV000605073 RCV000819113 RCV003338687

NM_001927.4(DES):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr2:219420915

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA2125199

rs_759320891

6 SubmittersRCV002223889 RCV002265821 RCV002385957 RCV002531873

NM_001927.4(DES):c.1151A>G (p.His384Arg)

SNV
Germline

Chr2:219421467

Likely pathogenic

Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I

Criteria Provided
Multiple Submitters
No Conflicts

CA350694607

rs_1553603566

3 SubmittersRCV002265824 RCV004002755 RCV005621986

NM_001927.4(DES):c.735+1G>T

SNV
Germline

Chr2:219420347

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350690693

rs_397516698

1 SubmittersRCV000700903

NM_001927.4(DES):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr2:219418976

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350686786

rs_1559352440

1 SubmittersRCV000697545

NM_001927.4(DES):c.1043A>C (p.Gln348Pro)

SNV
Germline

Chr2:219421359

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350693785

rs_1411703397

2 SubmittersRCV002265873

NM_001927.4(DES):c.1063C>T (p.Arg355Ter)

SNV
Germline

Chr2:219421379

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1I
Condition: not provided
Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA2125233

rs_762808690

4 SubmittersRCV000755704 RCV001784366 RCV002406675 RCV004017725

NM_001927.4(DES):c.365A>G (p.Tyr122Cys)

SNV
Germline

Chr2:219418827

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA350685550

rs_1400593451

4 SubmittersRCV000757150 RCV000852535 RCV001171066 RCV001855888

NM_001927.4(DES):c.516G>A (p.Gln172=)

SNV
Germline

Chr2:219418978

Conflicting classifications of pathogenicity

Cardiomyopathy
Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA65981284

rs_1014762661

3 SubmittersRCV000770166 RCV002067214 RCV002334432

NM_001927.4(DES):c.1237G>T (p.Glu413Ter)

SNV
Germline

Chr2:219421553

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350695103

rs_61726467

1 SubmittersRCV000792525

NM_001927.4(DES):c.1288+1G>A

SNV
Germline

Chr2:219423821

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Condition: not provided
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Dilated cardiomyopathy 1I

Criteria Provided
Conflicting Classifications

CA2125287

rs_112224037

5 SubmittersRCV000792330 RCV002386378 RCV002462138 RCV002507362 RCV004789189

NM_001927.4(DES):c.322G>T (p.Glu108Ter)

SNV
Germline

Chr2:219418784

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type

Criteria Provided
Multiple Submitters
No Conflicts

CA350685213

rs_62636490

4 SubmittersRCV000991885 RCV001047253 RCV002489466

NM_001927.4(DES):c.465C>T (p.Tyr155=)

SNV
Germline

Chr2:219418927

Conflicting classifications of pathogenicity

Condition: not provided
Desmin-related myofibrillar myopathy
not specified

Criteria Provided
Conflicting Classifications

CA431427848

rs_1458306248

3 SubmittersRCV000997672 RCV002550712 RCV005405478

NM_001927.4(DES):c.7C>T (p.Gln3Ter)

SNV
Germline

Chr2:219418469

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350681964

rs_1954358233

2 SubmittersRCV001037267 RCV003490014

NM_001927.4(DES):c.973C>T (p.Arg325Ter)

SNV
Germline

Chr2:219420903

Pathogenic/Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA350692951

rs_959034410

3 SubmittersRCV001092431 RCV001382898

NM_001927.4(DES):c.*51C>A

SNV
Germline

Chr2:219426041

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA2125328

rs_372291142

1 SubmittersRCV001142495 RCV001142496 RCV002265951

NM_001927.4(DES):c.*112C>G

SNV
Germline

Chr2:219426102

Conflicting classifications of pathogenicity

Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA65987360

rs_540351476

1 SubmittersRCV001142500 RCV001142499 RCV002265952

NM_001927.4(DES):c.*308C>A

SNV
Germline

Chr2:219426298

Conflicting classifications of pathogenicity

Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA65987447

rs_140222667

1 SubmittersRCV001140732 RCV001140733 RCV002265950

NM_001927.4(DES):c.735+11G>A

SNV
Germline

Chr2:219420357

Conflicting classifications of pathogenicity

Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA1139655712

rs_1559352868

2 SubmittersRCV001139746 RCV001139745 RCV002070661

NM_001927.4(DES):c.854C>T (p.Ala285Val)

SNV
Germline

Chr2:219420613

Likely pathogenic

Cardiomyopathy
Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350691558

rs_1368507241

3 SubmittersRCV001171068 RCV001873578 RCV004794495

NM_001927.4(DES):c.1055T>C (p.Leu352Ser)

SNV
Germline

Chr2:219421371

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA2125232

rs_775085773

1 SubmittersRCV001218064

NM_001927.4(DES):c.1202A>G (p.Glu401Gly)

SNV
Germline

Chr2:219421518

Likely pathogenic

Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA350694957

rs_1954444202

2 SubmittersRCV001245293 RCV005328655

NM_001927.4(DES):c.37T>C (p.Ser13Pro)

SNV
Germline

Chr2:219418499

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA350682267

rs_1954359599

2 SubmittersRCV003166680 RCV001299265

NM_001927.4(DES):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:219418464

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350681909

rs_2125165615

1 SubmittersRCV001377481

NM_001927.4(DES):c.885G>A (p.Trp295Ter)

SNV
Germline

Chr2:219420644

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA65982808

rs_146755676

5 SubmittersRCV001383569 RCV002224082 RCV002476724 RCV005330786

NM_001927.4(DES):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr2:219420516

Pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA350690834

rs_1187516594

2 SubmittersRCV003442532 RCV003992771

NM_001927.4(DES):c.1203G>C (p.Glu401Asp)

SNV
Germline

Chr2:219421519

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA350694961

rs_2125168897

2 SubmittersRCV002343849 RCV002541189

NM_001927.4(DES):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr2:219420311

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350690505

rs_774739275

1 SubmittersRCV002266017

NM_001927.4(DES):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr2:219421406

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350694122

rs_1224165687

1 SubmittersRCV001960550

NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)

SNV
Germline

Chr2:219421530

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350695004

rs_2125168913

1 SubmittersRCV002010793

NM_001927.4(DES):c.599T>A (p.Leu200Ter)

SNV
Germline

Chr2:219420115

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350689790

rs_2125167364

1 SubmittersRCV001926904

NM_001927.4(DES):c.1130T>C (p.Leu377Pro)

SNV
Germline

Chr2:219421446

Likely pathogenic

Desmin-related myofibrillar myopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type

Criteria Provided
Multiple Submitters
No Conflicts

CA350694440

rs_1432061016

2 SubmittersRCV001975552 RCV005409859

NM_001927.4(DES):c.300G>A (p.Glu100=)

SNV
Germline

Chr2:219418762

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431427465

rs_1339030541

2 SubmittersRCV002101449 RCV003319507

NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)

SNV
Germline

Chr2:178568639

Likely pathogenic

Desmin-related myofibrillar myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1989764

rs_760625258

2 SubmittersRCV002466287 RCV002337425

NM_001267550.2(TTN):c.57545-2A>G

SNV
Germline

Chr2:178595811

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1993025

rs_747068091

2 SubmittersRCV002466288 RCV003774891

NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter)

SNV
Germline

Chr2:178685271

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA349547838

rs_974953849

1 SubmittersRCV002466294

NM_001927.4(DES):c.735+2T>G

SNV
Germline

Chr2:219420348

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350690699

rs_949187421

1 SubmittersRCV002283933

NM_001927.4(DES):c.1372-6C>T

SNV
Germline

Chr2:219425943

Conflicting classifications of pathogenicity

Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2580065934

rs_2545264703

2 SubmittersRCV002598697 RCV003435876

NM_001927.4(DES):c.343C>A (p.Leu115Ile)

SNV
Germline

Chr2:219418805

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350685384

rs_1954372352

1 SubmittersRCV003084860

NM_001927.4(DES):c.1244+1G>A

SNV
Germline

Chr2:219421561

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350695138

rs_2545255549

1 SubmittersRCV002953882

NM_001927.4(DES):c.1217G>C (p.Arg406Pro)

SNV
Germline

Chr2:219421533

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350695020

rs_1057520275

1 SubmittersRCV003042121

NM_001927.4(DES):c.1204A>T (p.Ile402Phe)

SNV
Germline

Chr2:219421520

Conflicting classifications of pathogenicity

Cardiomyopathy
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA350694968

rs_2545255397

2 SubmittersRCV003150751 RCV003778901

NM_001927.4(DES):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr2:219420495

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1I
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

CA2125153

rs_144057476

2 SubmittersRCV003315214 RCV003777288

NM_001927.4(DES):c.578+2T>C

SNV
Germline

Chr2:219419042

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004690462

NM_001927.4(DES):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr2:219418625

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA350683513

rs_1954365477

2 SubmittersRCV003792422

NM_001927.4(DES):c.769C>T (p.Gln257Ter)

SNV
Germline

Chr2:219420528

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350690933

rs_1269819085

1 SubmittersRCV003792546

NM_001927.4(DES):c.249C>A (p.Tyr83Ter)

SNV
Germline

Chr2:219418711

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350684471

rs_2125166116

1 SubmittersRCV003794535

NM_001927.4(DES):c.579-2A>C

SNV
Germline

Chr2:219420093

Likely pathogenic

Desmin-related myofibrillar myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350689607

rs_2545250765

2 SubmittersRCV003809488 RCV004719394

NM_001927.4(DES):c.1396C>T (p.Gln466Ter)

SNV
Germline

Chr2:219425973

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

CA350699098

rs_2545264805

1 SubmittersRCV004018194

NM_001927.4(DES):c.949G>C (p.Ala317Pro)

SNV
Germline

Chr2:219420879

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

rs_2545253097

1 SubmittersRCV004587620

NM_001927.4(DES):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:219418465

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005225719

NM_001927.4(DES):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr2:219421358

Pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005212418

NM_001927.4(DES):c.821T>A (p.Leu274His)

SNV
Germline

Chr2:219420580

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005220056

NM_001927.4(DES):c.2T>G (p.Met1Arg)

SNV
Germline

Chr2:219418464

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005228156

NM_001927.4(DES):c.1288+2T>C

SNV
Germline

Chr2:219423822

Likely pathogenic

Desmin-related myofibrillar myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005222565