Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	SNV Germline	ChrX:31444621	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273079	rs_128625229	8 SubmittersRCV000011962 RCV000150056 RCV006605185 RCV006638602
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)	SNV Germline	ChrX:31178784	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273073	rs_104894787	11 SubmittersRCV000011964 RCV000180033 RCV000710121 RCV005042033 RCV006638603
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)	SNV Germline	ChrX:32501833	Pathogenic	Duchenne muscular dystrophy Condition: not provided Nonpapillary renal cell carcinoma Progressive muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273097	rs_201366610	8 SubmittersRCV000011973 RCV000727553 RCV005887435 RCV005632173 RCV006638604
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)	SNV Germline	ChrX:32816565	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273103	rs_128626235	12 SubmittersRCV000011976 RCV000255815 RCV005049333 RCV006688343 RCV006638605
NM_004006.3(DMD):c.2380+3A>C	SNV Germline	ChrX:32501752	Pathogenic	Becker muscular dystrophy	No Assertion Criteria Provided	CA913184728	rs_1569564916	1 SubmittersRCV000011977
NM_004006.3(DMD):c.8548-1G>C	SNV Germline	ChrX:31479104	Pathogenic	Becker muscular dystrophy Thyroid cancer, nonmedullary, 1	No Assertion Criteria Provided	CA412654697	rs_1569546198	2 SubmittersRCV000011978 RCV005887436
NM_004006.3(DMD):c.94-1G>T	SNV Germline	ChrX:32849821	Conflicting classifications of pathogenicity	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA412675012	rs_863225016	4 SubmittersRCV000011988 RCV000990759 RCV001781232
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)	SNV Germline	ChrX:32849736	Pathogenic	Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341040	rs_128626233	5 SubmittersRCV000011990 RCV000517214 RCV001831561
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn)	SNV Germline	ChrX:32699252	Pathogenic	Becker muscular dystrophy	No Assertion Criteria Provided	CA255761	rs_128626237	1 SubmittersRCV000011992
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)	SNV Germline	ChrX:32595870	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA341052	rs_128626241	5 SubmittersRCV000011999 RCV001781237 RCV005614369
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn)	SNV Germline	ChrX:32595757	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA412665250	rs_1556834513	2 SubmittersRCV000012000 RCV005089230
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)	SNV Germline	ChrX:32342123	Pathogenic	Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273091	rs_128626249	9 SubmittersRCV000012009 RCV000711463 RCV002354155 RCV006638606
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)	SNV Germline	ChrX:31178751	Pathogenic	Duchenne muscular dystrophy Condition: not provided X-linked DMD-related dystrophinopathy Abnormality of the musculature See cases Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency DMD-related muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273070	rs_104894790	13 SubmittersRCV000012024 RCV000437942 RCV000985010 RCV001813973 RCV002287331 RCV006638607 RCV006741214
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter)	SNV Germline	ChrX:32448611	Pathogenic	Becker muscular dystrophy	No Assertion Criteria Provided	CA255773	rs_267606771	1 SubmittersRCV000012031
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	SNV Germline	ChrX:31206663	Pathogenic	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA273076	rs_104894797	12 SubmittersRCV000012033 RCV000150055 RCV000723477 RCV005237369 RCV006638608
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	SNV Germline	ChrX:32438372	Pathogenic	Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA255776	rs_5030730	12 SubmittersRCV000012034 RCV000183404 RCV000201024 RCV003323357 RCV005403718
NM_004006.3(DMD):c.9225-285A>G	SNV Germline	ChrX:31261301	Pathogenic/Likely pathogenic	Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA255779	rs_587776747	6 SubmittersRCV000012038 RCV000727267 RCV000803254
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)	SNV Germline	ChrX:31478330	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA273082	rs_128627256	8 SubmittersRCV000012040 RCV000150057 RCV000515392
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	SNV Germline	ChrX:33211304	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA259713	rs_398122853	14 SubmittersRCV000022854 RCV000173322 RCV000183395 RCV000984166 RCV001264540 RCV006638711
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)	SNV Germline	ChrX:31180423	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266851	rs_398123827	8 SubmittersRCV000179687 RCV000518692 RCV006638827
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	SNV Germline	ChrX:31178721	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Abnormality of the musculature Cardiovascular phenotype Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266859	rs_398123832	12 SubmittersRCV000180030 RCV000183403 RCV000763209 RCV001814051 RCV005809218 RCV006638828
NM_004006.3(DMD):c.10223+1G>A	SNV Germline	ChrX:31178668	Pathogenic	Condition: not provided Duchenne muscular dystrophy Intermediate muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Cardiovascular phenotype Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266865	rs_398123834	12 SubmittersRCV000080415 RCV001386712 RCV001797983 RCV003323388 RCV005549909 RCV006638829
NM_004006.3(DMD):c.10863C>T (p.Ser3621=)	SNV Germline	ChrX:31146349	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222284	rs_398123847	4 SubmittersRCV000080433 RCV001826723 RCV001396275 RCV005821657
NM_004006.3(DMD):c.10921+5G>A	SNV Germline	ChrX:31146286	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222287	rs_398123848	3 SubmittersRCV000080434 RCV001086288 RCV001826724
NM_004006.3(DMD):c.1311T>G (p.Ala437=)	SNV Germline	ChrX:32644152	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222295	rs_398123855	5 SubmittersRCV000080442 RCV001088936 RCV000723667 RCV001831828 RCV002381399
NM_004006.3(DMD):c.1337A>G (p.His446Arg)	SNV Germline	ChrX:32614448	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA285523	rs_72468699	7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772
NM_004006.3(DMD):c.137A>T (p.Asp46Val)	SNV Germline	ChrX:32849777	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA266886	rs_398123858	3 SubmittersRCV001061449 RCV003144125 RCV006699199
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)	SNV Germline	ChrX:32573834	Pathogenic	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266898	rs_398123865	8 SubmittersRCV000080461 RCV000174745 RCV004796006 RCV005401326 RCV006697685
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)	SNV Germline	ChrX:32573611	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA285532	rs_150199251	10 SubmittersRCV000235164 RCV000723549 RCV000619753 RCV001079116 RCV001831832 RCV004542773
NM_004006.3(DMD):c.1848C>A (p.Ser616=)	SNV Germline	ChrX:32565846	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222307	rs_376024929	7 SubmittersRCV000080467 RCV000723432 RCV001082698 RCV001826729 RCV002408607
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)	SNV Germline	ChrX:32545330	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA285538	rs_34563188	15 SubmittersRCV000080474 RCV000250691 RCV000711450 RCV000853044 RCV001084848 RCV001165928 RCV001826731
NM_004006.3(DMD):c.2457A>C (p.Leu819=)	SNV Germline	ChrX:32491442	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA222318	rs_72468680	12 SubmittersRCV000225698 RCV000723550 RCV001082131 RCV001168044 RCV002444548 RCV001826736
NM_004006.3(DMD):c.2490C>T (p.Asn830=)	SNV Germline	ChrX:32491409	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA222321	rs_72468679	14 SubmittersRCV000223516 RCV000558620 RCV000621463 RCV001168043 RCV001080824 RCV001831837
NM_004006.3(DMD):c.2622+1G>A	SNV Germline	ChrX:32491276	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266948	rs_398123901	3 SubmittersRCV000080514 RCV001053382 RCV006638832
NM_004006.3(DMD):c.2804-1G>A	SNV Germline	ChrX:32472310	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266957	rs_398123909	4 SubmittersRCV000080525 RCV001050125 RCV006638833
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)	SNV Germline	ChrX:32472286	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA222348	rs_199986217	10 SubmittersRCV000080527 RCV000618497 RCV000845504 RCV000990698 RCV001167433 RCV001831839
NM_004006.3(DMD):c.2828G>A (p.Arg943His)	SNV Germline	ChrX:32472285	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222351	rs_398123911	4 SubmittersRCV000723655 RCV001512615 RCV001826739
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)	SNV Germline	ChrX:32472247	Pathogenic	Abnormality of the musculature Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266961	rs_398123912	4 SubmittersRCV001814053 RCV001854419 RCV005630248 RCV006638834
NM_004006.3(DMD):c.31+1G>T	SNV Germline	ChrX:33211281	Pathogenic	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA266984	rs_398123923	11 SubmittersRCV000080542 RCV000183396 RCV000808328 RCV001831841 RCV002321576 RCV006257269
NM_004006.3(DMD):c.31+36949C>T	SNV Germline	ChrX:33174333	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA222358	rs_182597890	7 SubmittersRCV000225710 RCV000723492 RCV001826742 RCV004537357
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)	SNV Germline	ChrX:32468509	Pathogenic	Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA266988	rs_398123929	13 SubmittersRCV000201197 RCV000627237 RCV000763210 RCV001526893 RCV006638835
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)	SNV Germline	ChrX:32464645	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222373	rs_398123931	8 SubmittersRCV000080568 RCV001257055 RCV001826743 RCV002321577
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)	SNV Germline	ChrX:32463576	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266994	rs_398123935	5 SubmittersRCV000176552 RCV000176553 RCV000627261
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)	SNV Germline	ChrX:32463452	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222380	rs_201297190	9 SubmittersRCV000723384 RCV001081258 RCV001831843 RCV002453402 RCV005431466
NM_004006.3(DMD):c.4233+2C>T	SNV Germline	ChrX:32411750	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Duchenne muscular dystrophy Cardiomyopathy Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B DMD-related disorder	Criteria Provided Conflicting Classifications	CA090924	rs_147474070	18 SubmittersRCV000080605 RCV000243182 RCV000467777 RCV000853040 RCV000710122 RCV001831849 RCV001167970 RCV004537359
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)	SNV Germline	ChrX:32389644	Pathogenic	Duchenne muscular dystrophy Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267021	rs_398123953	8 SubmittersRCV000201013 RCV000727564 RCV001174851 RCV001831852
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)	SNV Germline	ChrX:32389614	Pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267024	rs_398123954	3 SubmittersRCV000727593 RCV003466992
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)	SNV Germline	ChrX:32380611	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy not specified Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Condition: not provided Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA222407	rs_398123965	9 SubmittersRCV000333923 RCV000630633 RCV000444690 RCV001831853 RCV001705750 RCV004019555 RCV004737190
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)	SNV Germline	ChrX:32365049	Pathogenic	Condition: not provided Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA267046	rs_398123973	10 SubmittersRCV000516386 RCV000545335 RCV003323389 RCV006638836
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)	SNV Germline	ChrX:32362932	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222423	rs_200887855	10 SubmittersRCV000080645 RCV000723693 RCV001081480 RCV001831856 RCV002336233
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)	SNV Germline	ChrX:32362931	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA285577	rs_34102501	17 SubmittersRCV000212487 RCV000514541 RCV000621386 RCV001085478 RCV001167365 RCV001826752 RCV004537360
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)	SNV Germline	ChrX:32362826	Pathogenic	Condition: not provided Duchenne muscular dystrophy not specified Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA267055	rs_398123981	7 SubmittersRCV000080648 RCV000177912 RCV001000065 RCV001198765 RCV001826753
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)	SNV Germline	ChrX:32362825	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA222426	rs_398123982	7 SubmittersRCV000585494 RCV000794522 RCV001002261 RCV001826754 RCV004017393 RCV005886452
NM_004006.3(DMD):c.531-2A>C	SNV Unknown	ChrX:32809613	Likely pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter		rs_398123985	1 SubmittersRCV004575829
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	SNV Germline	ChrX:32345999	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Colorectal cancer Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA267064	rs_1064325	12 SubmittersRCV000080659 RCV000178001 RCV004796007 RCV005886453 RCV006638837
NM_004006.3(DMD):c.5586+9G>A	SNV Germline	ChrX:32345934	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA222436	rs_200025478	9 SubmittersRCV000080664 RCV000361961 RCV000463221 RCV001831859 RCV001811372 RCV004542777
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)	SNV Germline	ChrX:32343215	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222437	rs_398123994	5 SubmittersRCV000080667 RCV000723644 RCV001088624 RCV001831860 RCV002345394
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)	SNV Germline	ChrX:32342195	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA222441	rs_181849614	6 SubmittersRCV000080673 RCV001086404 RCV001169757 RCV001831862 RCV002354277 RCV004542778
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)	SNV Germline	ChrX:32809559	Pathogenic	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA267083	rs_398123999	8 SubmittersRCV000179875 RCV000338327 RCV001274385 RCV002498417
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)	SNV Germline	ChrX:32310215	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA147837	rs_147927593	10 SubmittersRCV000622085 RCV000711464 RCV001081041 RCV001835677 RCV002498418 RCV005403760
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)	SNV Germline	ChrX:32310199	Pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267090	rs_398124002	2 SubmittersRCV000178497 RCV002247478
NM_004006.3(DMD):c.606C>T (p.Ile202=)	SNV Germline	ChrX:32809536	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA222444	rs_138335295	6 SubmittersRCV000080681 RCV001082735 RCV001831863 RCV002354278 RCV003323390
NM_004006.3(DMD):c.6195T>C (p.Ser2065=)	SNV Germline	ChrX:32287624	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA222450	rs_398124006	3 SubmittersRCV000080686 RCV001444484 RCV001831864
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)	SNV Germline	ChrX:32217034	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype DMD-related disorder not specified	Criteria Provided Conflicting Classifications	CA285586	rs_142807436	12 SubmittersRCV000723715 RCV000853038 RCV001167894 RCV001835678 RCV001083222 RCV002354279 RCV004537361 RCV002265600
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)	SNV Germline	ChrX:31968482	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 3B Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA222478	rs_377080659	6 SubmittersRCV000080735 RCV000294282 RCV000617199 RCV001086507 RCV001831866
NM_004006.3(DMD):c.6763-2A>G	SNV Germline	ChrX:31929747	Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA267113	rs_398124033	4 SubmittersRCV001780943 RCV002034586 RCV002503270 RCV006638952
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)	SNV Germline	ChrX:31929680	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA285595	rs_72466595	14 SubmittersRCV000080740 RCV000466055 RCV001167299 RCV001528581 RCV001831867 RCV002362727 RCV004542779
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)	SNV Germline	ChrX:31836735	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 3B Becker muscular dystrophy Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Hereditary skeletal muscle disorder	Criteria Provided Conflicting Classifications	CA147852	rs_72466590	18 SubmittersRCV000080750 RCV000246044 RCV000509543 RCV001093402 RCV000990621 RCV001167295 RCV004776429
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)	SNV Germline	ChrX:31774179	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222490	rs_201919981	6 SubmittersRCV000080757 RCV000723546 RCV001088599 RCV001826759 RCV002381400
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)	SNV Germline	ChrX:31729638	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype DMD-related disorder Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA147856	rs_368803197	9 SubmittersRCV000080764 RCV001080502 RCV001169691 RCV002274910 RCV002390235 RCV004542780 RCV001826760
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)	SNV Germline	ChrX:31729634	Pathogenic	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267135	rs_398124050	9 SubmittersRCV000711467 RCV000797219 RCV001835679
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)	SNV Germline	ChrX:31496936	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222513	rs_398124071	5 SubmittersRCV000630546 RCV001826763 RCV002504994 RCV003144127 RCV003162512
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)	SNV Germline	ChrX:31479043	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy DMD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA267169	rs_398124074	9 SubmittersRCV000080803 RCV000179204 RCV001831875 RCV004528291
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)	SNV Germline	ChrX:31478276	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B DMD-related disorder Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy not specified Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA222518	rs_116283249	11 SubmittersRCV000617868 RCV000723438 RCV001087138 RCV001167231 RCV004529846 RCV001826765 RCV005403761 RCV005886455
NM_004006.3(DMD):c.8852G>A (p.Arg2951His)	SNV Germline	ChrX:31478191	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA222521	rs_72466567	4 SubmittersRCV000080814 RCV001089143 RCV001831877 RCV004019558
NM_004006.3(DMD):c.9164-1G>T	SNV Unknown	ChrX:31323659	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter		rs_398124082	1 SubmittersRCV004575826
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)	SNV Germline	ChrX:31223071	Pathogenic	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267182	rs_398124092	6 SubmittersRCV000179641 RCV000254753 RCV001826766
NM_004006.3(DMD):c.9361+1G>A	SNV Germline	ChrX:31223046	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Neuromuscular disease caused by qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA267188	rs_398124094	7 SubmittersRCV000080839 RCV000797326 RCV006638838 RCV006456687
NM_004006.3(DMD):c.9361+1G>C	SNV Germline	ChrX:31223046	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA267189	rs_398124094	4 SubmittersRCV000179638 RCV001854426 RCV006638839
NM_004006.3(DMD):c.961-5831C>T	SNV Germline	ChrX:32650983	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA267191	rs_398124099	4 SubmittersRCV000080848 RCV000531926 RCV002247479
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	SNV Germline	ChrX:32573618	Conflicting classifications of pathogenicity	Exertional myalgia, muscle stiffness and myoglobinuria not specified Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA211406	rs_370644567	16 SubmittersRCV000148464 RCV000223816 RCV000516302 RCV000630575 RCV000984165 RCV000984164 RCV002408653 RCV003103987 RCV004786398 RCV005867932 RCV006638878
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)	SNV Germline	ChrX:32644145	Conflicting classifications of pathogenicity	Becker muscular dystrophy Condition: not provided not specified Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA272861	rs_189143447	11 SubmittersRCV000148465 RCV000183380 RCV000254538 RCV000990731 RCV001276610 RCV002381455
NM_004006.3(DMD):c.1812+1G>A	SNV Germline	ChrX:32573529	Pathogenic/Likely pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin See cases Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Cardiovascular phenotype Dilated and arrhythmogenic cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA273064	rs_373286166	18 SubmittersRCV000149882 RCV000201160 RCV000521440 RCV000984163 RCV002483296 RCV003155089 RCV004797784 RCV006638882 RCV006725754 RCV006649921
NM_001005242.3(PKP2):c.1379-2019C>T	SNV Germline	Chr12:32843224	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 9 Brugada syndrome Becker muscular dystrophy Duchenne muscular dystrophy Primary dilated cardiomyopathy Dilated cardiomyopathy 3B Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA010572	rs_149930872	14 SubmittersRCV000155807 RCV000172581 RCV000528781 RCV000578088 RCV000577994 RCV000577936 RCV000577930 RCV000578052 RCV000619186 RCV000771870
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)	SNV Germline	ChrX:31820041	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA233490	rs_139395045	5 SubmittersRCV000621856 RCV000723951 RCV001079174 RCV001831946
NM_004006.3(DMD):c.295A>G (p.Ile99Val)	SNV Germline	ChrX:32823357	Conflicting classifications of pathogenicity	not specified Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA295602	rs_149428656	9 SubmittersRCV000212485 RCV000515266 RCV000630541 RCV000723910 RCV002433667 RCV004551317
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	SNV Germline	ChrX:32697947	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin DMD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273321	rs_727503864	7 SubmittersRCV000153012 RCV001041065 RCV002470775 RCV003226216 RCV004724933
NM_004006.3(DMD):c.2199C>T (p.Ser733=)	SNV Germline	ChrX:32518101	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA233707	rs_149882431	10 SubmittersRCV000250787 RCV000630599 RCV001168816 RCV001719947 RCV001835693 RCV002426728
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)	SNV Germline	ChrX:32645020	Pathogenic	Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA274935	rs_794726993	5 SubmittersRCV000173785 RCV000984160 RCV000984161 RCV000984162 RCV001826873
NM_004006.3(DMD):c.1150-4T>A	SNV Germline	ChrX:32644317	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA239556	rs_794727031	6 SubmittersRCV000174091 RCV000724107 RCV001451060 RCV001826874 RCV002453608
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)	SNV Germline	ChrX:32545288	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA240885	rs_367769606	4 SubmittersRCV000175177 RCV001852142 RCV002485135 RCV006659251
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)	SNV Germline	ChrX:32545231	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 3B Condition: not provided Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA201333	rs_202008454	10 SubmittersRCV000175178 RCV000630637 RCV000853043 RCV001168819 RCV001762398 RCV001826882 RCV002415750
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)	SNV Germline	ChrX:32464593	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy DMD-related disorder Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA242443	rs_747239076	6 SubmittersRCV000176480 RCV001257067 RCV001832009 RCV004537401 RCV005328221 RCV006263718
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr)	SNV Germline	ChrX:32463527	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA242545	rs_748123444	5 SubmittersRCV000176556 RCV000766088 RCV001315018 RCV001826894 RCV005549919
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)	SNV Germline	ChrX:32448546	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA242774	rs_369971712	5 SubmittersRCV000176745 RCV000724117 RCV001416297 RCV001826895 RCV002345604
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)	SNV Germline	ChrX:32441285	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA242962	rs_760733415	10 SubmittersRCV000306607 RCV000724165 RCV001080626 RCV001826896 RCV002362899 RCV004998375
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)	SNV Germline	ChrX:32342154	Pathogenic	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA346882	rs_794727666	4 SubmittersRCV000178462 RCV002250590 RCV002517735
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)	SNV Germline	ChrX:31836739	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA245865	rs_202090289	4 SubmittersRCV000178692 RCV001088379 RCV001826909 RCV004020130
NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)	SNV Germline	ChrX:31679500	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA246359	rs_773656507	3 SubmittersRCV000179127 RCV000630500 RCV001826914
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)	SNV Germline	ChrX:31658029	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246388	rs_144103124	6 SubmittersRCV000724591 RCV001086337 RCV001833086 RCV002408775
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)	SNV Germline	ChrX:31627743	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA246410	rs_750640802	5 SubmittersRCV000179162 RCV000723963 RCV001079559 RCV001833087
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)	SNV Germline	ChrX:31627814	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy not specified DMD-related disorder	Criteria Provided Conflicting Classifications	CA246413	rs_144518527	7 SubmittersRCV000619660 RCV000724640 RCV001085311 RCV001833088 RCV003330538 RCV004537481
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)	SNV Germline	ChrX:31507445	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA246434	rs_746514008	7 SubmittersRCV000245458 RCV000247407 RCV000487873 RCV001085409 RCV001826915
NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu)	SNV Germline	ChrX:31444533	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246864	rs_143925896	4 SubmittersRCV000179580 RCV000630569 RCV001833090 RCV005809228
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)	SNV Germline	ChrX:31323624	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246901	rs_753594128	5 SubmittersRCV000179601 RCV001078477 RCV001826919 RCV003165375
NM_004006.3(DMD):c.9564-5A>G	SNV Germline	ChrX:31206672	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA246969	rs_201390145	6 SubmittersRCV000313672 RCV000723885 RCV001082624 RCV001833091 RCV002372102
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)	SNV Germline	ChrX:31178764	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA247408	rs_755438733	5 SubmittersRCV000180034 RCV001078707 RCV001826920 RCV002453640
NM_004006.3(DMD):c.733A>G (p.Ile245Val)	SNV Germline	ChrX:32699210	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA247616	rs_140510985	8 SubmittersRCV000630494 RCV000659150 RCV001833095 RCV002381581 RCV006263720
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)	SNV Germline	ChrX:31444591	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA308370	rs_201691420	7 SubmittersRCV000183401 RCV000620404 RCV000630589 RCV001165645 RCV001827984 RCV006263724
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)	SNV Germline	ChrX:32310266	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308358	rs_148135406	6 SubmittersRCV000405759 RCV001078708 RCV000726721 RCV001826926 RCV002354487
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)	SNV Germline	ChrX:32342153	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA308406	rs_755477994	5 SubmittersRCV000183418 RCV000766087 RCV001057446 RCV004537536
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)	SNV Germline	ChrX:32362910	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA308394	rs_147904018	9 SubmittersRCV000396354 RCV000469017 RCV000617311 RCV001835711 RCV002492828 RCV003436975 RCV004539710
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)	SNV Germline	ChrX:32438375	Conflicting classifications of pathogenicity	Condition: not provided Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA308391	rs_794729003	5 SubmittersRCV000183411 RCV001827986 RCV001852354
NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)	SNV Germline	ChrX:32464671	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308388	rs_140106769	4 SubmittersRCV000731035 RCV001241260 RCV001827985 RCV002321730
NM_004006.3(DMD):c.2824A>G (p.Met942Val)	SNV Germline	ChrX:32472289	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308343	rs_371648742	6 SubmittersRCV000183385 RCV000726566 RCV001084984 RCV001826925 RCV002433814
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)	SNV Germline	ChrX:32518027	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Familial restrictive cardiomyopathy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype Condition: not provided not specified DMD-related disorder	Criteria Provided Conflicting Classifications	CA308419	rs_750526692	9 SubmittersRCV000555681 RCV000853164 RCV001168047 RCV001833105 RCV001852355 RCV002444741 RCV005230047 RCV005237669 RCV004539712
NM_004006.3(DMD):c.6614+3310G>T	SNV Germline	ChrX:31965029	Likely pathogenic	Duchenne muscular dystrophy Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347360	rs_797045526	5 SubmittersRCV000192688 RCV000727646 RCV004700578 RCV005042411
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)	SNV Germline	ChrX:31507314	Pathogenic	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347478	rs_863225012	4 SubmittersRCV000201027 RCV001781603 RCV001828037
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)	SNV Germline	ChrX:31627852	Pathogenic	Duchenne muscular dystrophy Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347572	rs_863225011	7 SubmittersRCV000201174 RCV000348940 RCV001192549 RCV006640454
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)	SNV Germline	ChrX:32346068	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347548	rs_863225002	2 SubmittersRCV000201122 RCV006640453
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)	SNV Germline	ChrX:32364605	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA347522	rs_863225001	5 SubmittersRCV000201095 RCV000760389 RCV003468913 RCV005237711
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)	SNV Germline	ChrX:32380626	Pathogenic	Duchenne muscular dystrophy Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Cardiovascular phenotype Dilated cardiomyopathy 3B Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347565	rs_863224999	10 SubmittersRCV000201158 RCV000255348 RCV001193218 RCV002336547 RCV003997034 RCV006640452
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)	SNV Germline	ChrX:32484925	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347495	rs_756949497	6 SubmittersRCV000201047 RCV000726064 RCV006640451
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)	SNV Germline	ChrX:32573766	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347533	rs_863224984	4 SubmittersRCV000201104 RCV001589082 RCV006640450
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)	SNV Germline	ChrX:31968451	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	No Assertion Criteria Provided	CA358809	rs_779739455	2 SubmittersRCV000210931 RCV000582216
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)	SNV Germline	ChrX:32518055	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379595	rs_771803281	7 SubmittersRCV000211455 RCV000374144 RCV000725716 RCV001397433 RCV001828052 RCV004992086
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)	SNV Germline	ChrX:31178669	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377674	rs_777510517	8 SubmittersRCV000213994 RCV000470937 RCV001528853 RCV001828075 RCV004992094
NM_004006.3(DMD):c.298G>A (p.Val100Ile)	SNV Germline	ChrX:32823354	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380189	rs_779099343	5 SubmittersRCV000219870 RCV001828073 RCV002433934 RCV002478767 RCV002517540
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)	SNV Germline	ChrX:32849769	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA10380250	rs_147548697	8 SubmittersRCV000214960 RCV000732782 RCV001085127 RCV001833181 RCV002390569 RCV005895010
NM_004006.3(DMD):c.43G>C (p.Asp15His)	SNV Germline	ChrX:33020189	Conflicting classifications of pathogenicity	not specified Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10577170	rs_876657780	5 SubmittersRCV000215055 RCV001833199 RCV002327086 RCV001853444 RCV005632324
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)	SNV Germline	ChrX:31206651	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377775	rs_181517869	6 SubmittersRCV000229457 RCV000764875 RCV001828115 RCV001854834 RCV002472977 RCV005549929
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)	SNV Germline	ChrX:31223083	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377830	rs_201718067	5 SubmittersRCV000382296 RCV001086428 RCV001828114 RCV002372274
NM_004006.3(DMD):c.7200+9G>A	SNV Germline	ChrX:31836709	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378325	rs_748786108	3 SubmittersRCV000290546 RCV001412524 RCV001833245
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)	SNV Germline	ChrX:32438361	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 3B Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10379147	rs_199643655	10 SubmittersRCV000339725 RCV000284261 RCV000621050 RCV000725448 RCV001084784 RCV001828111
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)	SNV Germline	ChrX:32491426	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10379513	rs_769988372	6 SubmittersRCV000228776 RCV001828110 RCV002444899 RCV003488488 RCV005238762
NM_004006.3(DMD):c.1603-4C>A	SNV Germline	ChrX:32573850	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10379780	rs_377223643	5 SubmittersRCV000731252 RCV001080237 RCV001828108 RCV002399824 RCV005406977
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)	SNV Germline	ChrX:31478117	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377964	rs_142128738	5 SubmittersRCV000247702 RCV000792624 RCV001165646 RCV001828141 RCV003343731
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)	SNV Germline	ChrX:31478196	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Condition: not provided Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377978	rs_185664502	7 SubmittersRCV000525821 RCV000242908 RCV000727340 RCV001828140 RCV004992135
NM_004006.3(DMD):c.960+9A>G	SNV Germline	ChrX:32697861	Conflicting classifications of pathogenicity	Condition: not provided not specified Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10587388	rs_886038537	4 SubmittersRCV000725026 RCV000244751 RCV001088339 RCV001828142
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)	SNV Germline	Chr20:33417800	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Long QT syndrome 12 Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA9817183	rs_771180054	5 SubmittersRCV000245286 RCV000577950 RCV000578061 RCV000578008 RCV000578006 RCV001270098 RCV001859463
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)	SNV Germline	ChrX:31134176	Conflicting classifications of pathogenicity	Cardiovascular phenotype Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10377501	rs_759642119	5 SubmittersRCV000242239 RCV001835745 RCV002518681 RCV005256511
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)	SNV Germline	ChrX:31679535	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378222	rs_371588290	4 SubmittersRCV000253476 RCV001246274 RCV001828165 RCV002494792
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)	SNV Germline	ChrX:31774073	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378279	rs_759274835	4 SubmittersRCV000248044 RCV001067594 RCV001828166 RCV002479986
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)	SNV Germline	ChrX:32346044	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Condition: not provided Long QT syndrome Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10378672	rs_754765424	13 SubmittersRCV000247130 RCV000369939 RCV000468573 RCV000853039 RCV001085412 RCV001165782 RCV001835746
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)	SNV Germline	ChrX:32362897	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Dystonia, early-onset, and/or spastic paraplegia	Criteria Provided Conflicting Classifications	CA10378740	rs_200740165	5 SubmittersRCV000244774 RCV000731031 RCV001244498 RCV001828163 RCV005621928
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly)	SNV Germline	ChrX:32501812	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10587978	rs_886038905	6 SubmittersRCV000250208 RCV000365041 RCV001833288 RCV002500944 RCV002518692
NM_004006.3(DMD):c.694A>C (p.Ile232Leu)	SNV Germline	ChrX:32699249	Conflicting classifications of pathogenicity	Cardiovascular phenotype Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380085	rs_758447768	3 SubmittersRCV000245144 RCV001833291 RCV003765561
NM_004006.3(DMD):c.8218-2A>G	SNV Germline	ChrX:31507455	Pathogenic	Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588768	rs_886039478	4 SubmittersRCV000256145 RCV001828170 RCV002470829
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)	SNV Germline	ChrX:32464603	Pathogenic	Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10588771	rs_886039536	4 SubmittersRCV000255926 RCV001833300 RCV001859480
NM_004006.3(DMD):c.31+36947G>A	SNV Germline	ChrX:33174335	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10603815	rs_886042106	9 SubmittersRCV000341131 RCV001377027 RCV002321946 RCV003469218 RCV006640533
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)	SNV Germline	ChrX:31496815	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378057	rs_767304792	4 SubmittersRCV000304920 RCV001521958 RCV001828177 RCV002411143
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	SNV Germline	ChrX:32565760	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA10379682	rs_147822019	15 SubmittersRCV000305211 RCV000514379 RCV001082933 RCV001833309 RCV002411145 RCV004542986 RCV005895533
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)	SNV Germline	ChrX:31729713	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378249	rs_142236825	5 SubmittersRCV000724972 RCV001088245 RCV001833314 RCV002392795
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)	SNV Germline	ChrX:31478214	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377981	rs_150766816	6 SubmittersRCV000724978 RCV001468477 RCV001828183 RCV002374454
NM_004006.3(DMD):c.7310-7A>G	SNV Germline	ChrX:31774199	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378290	rs_373230021	9 SubmittersRCV000309756 RCV000862414 RCV001165708 RCV001529411 RCV001833315
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)	SNV Germline	ChrX:32468613	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379367	rs_139772014	4 SubmittersRCV000289657 RCV001083952 RCV001833318 RCV002446517
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)	SNV Germline	ChrX:32364660	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10378777	rs_145181319	6 SubmittersRCV000725098 RCV001027925 RCV001080037 RCV002338825 RCV006452556
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)	SNV Germline	ChrX:31679525	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378219	rs_368164231	5 SubmittersRCV000355167 RCV000803400 RCV001833322 RCV002401978
NM_004006.3(DMD):c.146G>A (p.Arg49His)	SNV Germline	ChrX:32849768	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10380249	rs_765584669	6 SubmittersRCV000273629 RCV000695408 RCV001828187 RCV002392799 RCV002494825
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)	SNV Germline	ChrX:31147478	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10377564	rs_766716563	6 SubmittersRCV000391421 RCV001243918 RCV001828190 RCV002401980 RCV006701279
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)	SNV Germline	ChrX:31173588	Pathogenic	Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10604571	rs_886042691	3 SubmittersRCV000346429 RCV006640539
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)	SNV Germline	ChrX:32463496	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10604858	rs_191164314	4 SubmittersRCV000329676 RCV001088683 RCV001828204 RCV003165736
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)	SNV Germline	ChrX:31507349	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378094	rs_72466575	5 SubmittersRCV000364124 RCV001452835 RCV001828205 RCV005328234
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)	SNV Germline	ChrX:31209582	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377802	rs_771392678	12 SubmittersRCV000263365 RCV000463720 RCV000725517 RCV001165643 RCV001833336 RCV002374462 RCV004535328
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)	SNV Germline	ChrX:31875201	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378350	rs_141151675	7 SubmittersRCV000725518 RCV001089128 RCV001167296 RCV001828207 RCV002365315
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)	SNV Germline	ChrX:32816541	Pathogenic	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA10604955	rs_886042983	5 SubmittersRCV000322545 RCV001389979 RCV004796150
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)	SNV Germline	ChrX:31773981	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378266	rs_112516305	9 SubmittersRCV000304326 RCV000619872 RCV000725558 RCV001083787 RCV001165704 RCV001833338 RCV004543055
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)	SNV Germline	ChrX:32441307	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379186	rs_200213555	8 SubmittersRCV000394586 RCV000547718 RCV001169829 RCV001795483 RCV001835753
NM_004006.3(DMD):c.2988A>G (p.Leu996=)	SNV Germline	ChrX:32468672	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379378	rs_148835707	7 SubmittersRCV000318425 RCV001081510 RCV001828210 RCV002436107 RCV004535344
NM_004006.3(DMD):c.5739+1G>T	SNV Germline	ChrX:32343133	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10605032	rs_886043041	4 SubmittersRCV000334459 RCV001004419 RCV001833346
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)	SNV Germline	ChrX:32454820	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379265	rs_144667422	4 SubmittersRCV000400926 RCV001088792 RCV001835755 RCV003298339
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)	SNV Germline	ChrX:32441287	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379181	rs_746405191	5 SubmittersRCV000303979 RCV001519060 RCV001833350 RCV002356382 RCV004535347
NM_004006.3(DMD):c.8999G>A (p.Arg3000His)	SNV Germline	ChrX:31444566	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10377939	rs_772695216	3 SubmittersRCV000323204 RCV001454556 RCV001828218
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)	SNV Germline	ChrX:32438376	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379150	rs_377156960	6 SubmittersRCV000290499 RCV000341663 RCV001088143 RCV001833352 RCV002374467
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)	SNV Germline	ChrX:32595765	Pathogenic	Condition: not provided Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10605246	rs_763936813	5 SubmittersRCV000351927 RCV001859630 RCV003317180 RCV003469235
NM_004006.3(DMD):c.1150-1G>A	SNV Germline	ChrX:32644314	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10605293	rs_886043251	4 SubmittersRCV000579074 RCV005090364 RCV006640548
NM_004006.3(DMD):c.9093C>T (p.Val3031=)	SNV Germline	ChrX:31348626	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377912	rs_72466563	8 SubmittersRCV000725803 RCV001081154 RCV001833358 RCV002374469 RCV004535362
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)	SNV Germline	ChrX:32468580	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379364	rs_370171367	5 SubmittersRCV000725809 RCV001833359 RCV001859643 RCV006659384
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)	SNV Germline	ChrX:32464623	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10605583	rs_886043493	6 SubmittersRCV000711453 RCV001070295 RCV001833366 RCV002446523
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)	SNV Germline	ChrX:31323657	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377895	rs_137905486	9 SubmittersRCV000329066 RCV000622128 RCV000725916 RCV001080762 RCV001835758 RCV004543092
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)	SNV Germline	ChrX:31496899	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378066	rs_139365076	5 SubmittersRCV000725939 RCV001085883 RCV001828240 RCV002446524
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)	SNV Germline	ChrX:31658103	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378184	rs_754997935	5 SubmittersRCV000300354 RCV000726070 RCV001078475 RCV001828245 RCV003165756
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)	SNV Germline	ChrX:32365194	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10378835	rs_143719666	5 SubmittersRCV000338640 RCV001479908 RCV001833381 RCV002338852 RCV006688747
NM_004006.3(DMD):c.1014A>G (p.Glu338=)	SNV Germline	ChrX:32645099	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379984	rs_758035070	4 SubmittersRCV000275363 RCV001484138 RCV001828250 RCV004021251
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)	SNV Germline	ChrX:32518009	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype Malignant tumor of esophagus Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10379588	rs_199588981	8 SubmittersRCV000397777 RCV000726166 RCV001081740 RCV001833382 RCV002450828 RCV005895839 RCV005895840
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)	SNV Germline	ChrX:31180469	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377708	rs_145595228	4 SubmittersRCV000377578 RCV001469451 RCV001828253 RCV004992162
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)	SNV Germline	ChrX:31774053	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378275	rs_766075840	5 SubmittersRCV000373348 RCV001082035 RCV001828258 RCV002379148
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)	SNV Germline	ChrX:32389536	Pathogenic	Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606266	rs_748769566	4 SubmittersRCV000387009 RCV000726249 RCV004796155
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)	SNV Germline	ChrX:31658098	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Condition: not provided Primary dilated cardiomyopathy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378183	rs_146020545	6 SubmittersRCV000341637 RCV000527970 RCV000726250 RCV001270144 RCV001833386 RCV003343745
NM_004006.3(DMD):c.1482+7G>T	SNV Germline	ChrX:32614296	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379847	rs_766338928	4 SubmittersRCV000401219 RCV001411296 RCV001828259
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)	SNV Germline	ChrX:31146301	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377517	rs_747939733	4 SubmittersRCV000305361 RCV001082046 RCV001828265 RCV004021273
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)	SNV Germline	ChrX:32809516	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380113	rs_372832497	8 SubmittersRCV000391044 RCV000696155 RCV001168874 RCV001835765 RCV002480044
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)	SNV Germline	ChrX:32573762	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379768	rs_145739725	8 SubmittersRCV000362270 RCV000766091 RCV001086639 RCV002402004
NM_004006.3(DMD):c.501G>T (p.Leu167=)	SNV Germline	ChrX:32816497	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10380149	rs_150239235	4 SubmittersRCV000272433 RCV001088013 RCV002338857 RCV001835766
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)	SNV Germline	ChrX:31658017	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378173	rs_371437381	4 SubmittersRCV000274831 RCV001828267 RCV001245262 RCV003165772
NM_004006.3(DMD):c.4072-3T>C	SNV Germline	ChrX:32411916	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379044	rs_751657094	6 SubmittersRCV000329931 RCV000726439 RCV001078710 RCV001833401 RCV002321964
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)	SNV Germline	ChrX:32310266	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378563	rs_148135406	5 SubmittersRCV000274771 RCV001082959 RCV001835768 RCV002356394
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp)	SNV Germline	ChrX:32644280	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379947	rs_780356433	5 SubmittersRCV000259220 RCV001213160 RCV001828274 RCV002487281
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)	SNV Germline	ChrX:32438263	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379126	rs_750981128	6 SubmittersRCV000316844 RCV001833402 RCV002321965 RCV001339956
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)	SNV Germline	ChrX:31836788	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378333	rs_201262489	4 SubmittersRCV000261998 RCV001078740 RCV001828275 RCV003165774
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)	SNV Germline	ChrX:32463458	Pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10606715	rs_886044406	2 SubmittersRCV000328723 RCV004796156
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)	SNV Germline	ChrX:32365146	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10606716	rs_886044407	5 SubmittersRCV000265575 RCV001373716 RCV001835770 RCV002480052 RCV003165775
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)	SNV Germline	ChrX:31444532	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377935	rs_774722438	7 SubmittersRCV000307995 RCV001084949 RCV001165644 RCV001828276 RCV002374486
NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)	SNV Germline	ChrX:32343167	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10378618	rs_752774864	4 SubmittersRCV000329015 RCV001231485 RCV001833409
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)	SNV Germline	ChrX:31182824	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377728	rs_146543659	5 SubmittersRCV000270713 RCV001079512 RCV001833410 RCV002379152
NM_004006.3(DMD):c.9649+8G>A	SNV Germline	ChrX:31206574	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10377768	rs_373703618	3 SubmittersRCV000307296 RCV001083126 RCV001833412
NM_004006.3(DMD):c.6614+7C>T	SNV Germline	ChrX:31968332	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378436	rs_180719577	9 SubmittersRCV000305282 RCV000726571 RCV001088071 RCV001833414 RCV004537617
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)	SNV Germline	ChrX:31507349	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378093	rs_72466575	7 SubmittersRCV000726635 RCV001080858 RCV001828283 RCV002411177
NM_004006.3(DMD):c.2508T>C (p.Tyr836=)	SNV Germline	ChrX:32491391	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10607045	rs_886044674	3 SubmittersRCV000381239 RCV000536795 RCV001833417
NM_004006.3(DMD):c.530+7A>T	SNV Germline	ChrX:32816461	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA10380144	rs_72470523	7 SubmittersRCV000402577 RCV000487649 RCV001080887 RCV001833485 RCV006690398
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)	SNV Germline	ChrX:31178746	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10377685	rs_766427132	4 SubmittersRCV000348269 RCV001496124 RCV002328896 RCV001835786
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)	SNV Germline	ChrX:32448576	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B not specified Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379210	rs_373281760	9 SubmittersRCV000310255 RCV000733599 RCV000828194 RCV001086115 RCV001833484 RCV002450944
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)	SNV Germline	ChrX:31968498	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10378454	rs_767681834	4 SubmittersRCV000389716 RCV002502413 RCV002523832 RCV005632388
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)	SNV Germline	ChrX:32310235	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10654306	rs_1057515869	3 SubmittersRCV000336456 RCV001444991 RCV001828367
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	SNV Germline	ChrX:31177947	Conflicting classifications of pathogenicity	Pectus excavatum Ptosis Clinodactyly of the 5th finger Proptosis Cardiomyopathy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified Cardiovascular phenotype Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10377653	rs_201217593	13 SubmittersRCV000415019 RCV000763208 RCV001035227 RCV002248648 RCV002379278 RCV001420737 RCV003470367 RCV001764346 RCV006640623
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)	SNV Germline	ChrX:32573812	Pathogenic	6 conditions Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA16043590	rs_1057518962	3 SubmittersRCV000415104 RCV001198405 RCV002521460 RCV004796172
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)	SNV Germline	ChrX:31836731	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16043742	rs_1057519106	5 SubmittersRCV000415746 RCV000457466 RCV001833507 RCV003298426
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)	SNV Germline	ChrX:32346040	Conflicting classifications of pathogenicity	Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10378670	rs_369055628	8 SubmittersRCV000415685 RCV000415628 RCV000415647 RCV000513342 RCV001833509 RCV004992198 RCV006452626
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)	SNV Germline	ChrX:32389570	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378953	rs_765355046	6 SubmittersRCV000417293 RCV001369813 RCV001833510 RCV002328906 RCV005632392
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)	SNV Germline	ChrX:32472255	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Condition: not provided DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379419	rs_142133195	7 SubmittersRCV000436857 RCV000530235 RCV001828430 RCV003144261 RCV004539870
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)	SNV Germline	ChrX:32595841	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379829	rs_755456119	8 SubmittersRCV000428491 RCV000727262 RCV001167508 RCV001497899 RCV001828413 RCV002392980
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)	SNV Germline	ChrX:31478157	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377972	rs_371648038	6 SubmittersRCV000443270 RCV000726697 RCV001509680 RCV001835800 RCV002374699 RCV004539891
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)	SNV Germline	ChrX:32287607	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378513	rs_774825173	5 SubmittersRCV000424766 RCV001460941 RCV001828420 RCV003144260 RCV003380559
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)	SNV Germline	ChrX:32287668	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378521	rs_140791274	6 SubmittersRCV000439362 RCV000459246 RCV001833527 RCV005404555
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)	SNV Germline	ChrX:32468614	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379368	rs_199808421	5 SubmittersRCV000429074 RCV001861563 RCV001833544 RCV003437189 RCV005540076
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)	SNV Germline	ChrX:32645004	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10379972	rs_773299186	4 SubmittersRCV000432889 RCV001833571 RCV002526364 RCV002488986
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)	SNV Germline	ChrX:32468564	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379359	rs_770148717	6 SubmittersRCV000734228 RCV001085168 RCV001833560 RCV004992212
NM_004006.3(DMD):c.2166A>G (p.Lys722=)	SNV Germline	ChrX:32545161	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379626	rs_147580966	5 SubmittersRCV000727475 RCV001081043 RCV001828443 RCV002429442
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)	SNV Germline	ChrX:32697946	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380038	rs_377587957	7 SubmittersRCV000437740 RCV000732712 RCV001086130 RCV001828407 RCV002374644
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)	SNV Germline	ChrX:31134141	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377496	rs_768532317	5 SubmittersRCV000460936 RCV000999364 RCV001828471 RCV004022741
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)	SNV Germline	ChrX:31507432	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378103	rs_772732788	5 SubmittersRCV000472076 RCV000592149 RCV002481442
NM_004006.3(DMD):c.7892G>A (p.Arg2631His)	SNV Germline	ChrX:31658125	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378186	rs_748007790	4 SubmittersRCV000459837 RCV001828472 RCV003237871 RCV004022742
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)	SNV Germline	ChrX:32380634	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10378879	rs_755206033	8 SubmittersRCV000593867 RCV001167968 RCV001087423 RCV001833588 RCV002339170 RCV004737533
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)	SNV Germline	ChrX:32441285	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA16616498	rs_760733415	4 SubmittersRCV000458499 RCV001833587 RCV002356685 RCV004722788
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	SNV Germline	ChrX:32485057	Pathogenic	Duchenne muscular dystrophy Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16616505	rs_1060502639	8 SubmittersRCV000474172 RCV000757161 RCV001193188 RCV001833585 RCV004568048 RCV005044685
NM_004006.3(DMD):c.2551A>C (p.Asn851His)	SNV Germline	ChrX:32491348	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379496	rs_753665097	3 SubmittersRCV000464830 RCV001833584 RCV002489061
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)	SNV Germline	ChrX:32573796	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16616525	rs_1060502629	5 SubmittersRCV000469346 RCV000517238 RCV006640646
NM_004006.3(DMD):c.10797+1G>A	SNV Germline	ChrX:31147274	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16616650	rs_1060502626	2 SubmittersRCV000464915 RCV006640645
NM_004006.3(DMD):c.5040C>T (p.His1680=)	SNV Germline	ChrX:32364696	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA16616680	rs_72468632	3 SubmittersRCV000729142 RCV001084460 RCV001828492
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)	SNV Germline	ChrX:32484997	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16616685	rs_1060502616	5 SubmittersRCV000468817 RCV001828470 RCV005239035 RCV005004174 RCV004992237
NM_004006.3(DMD):c.5448+1G>A	SNV Germline	ChrX:32348405	Likely pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16621361	rs_1064796764	2 SubmittersRCV000487293 RCV003464037
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)	SNV Germline	ChrX:31932210	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328487806	rs_900089672	4 SubmittersRCV000489867 RCV001203049 RCV001834589 RCV002376894
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)	SNV Germline	ChrX:32438359	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379146	rs_759820971	5 SubmittersRCV000490004 RCV001242084 RCV001273878 RCV002475963 RCV005540091
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)	SNV Germline	ChrX:32491414	Pathogenic/Likely pathogenic	not specified Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412672508	rs_753662330	4 SubmittersRCV000507981 RCV001240972 RCV001783008 RCV003470640
NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)	SNV Germline	ChrX:31209501	Pathogenic/Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412649724	rs_1556280638	3 SubmittersRCV000506633 RCV005900940 RCV006640715
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)	SNV Germline	ChrX:31627752	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy DMD-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378137	rs_758633794	10 SubmittersRCV000518551 RCV000733400 RCV000990609 RCV001834662 RCV004535677 RCV002420297
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)	SNV Germline	ChrX:32216931	Pathogenic	Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412660498	rs_1425702864	3 SubmittersRCV000516178 RCV001834661
NM_004006.3(DMD):c.5586+1G>A	SNV Germline	ChrX:32345942	Likely pathogenic	Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412667208	rs_1557292599	4 SubmittersRCV000517883 RCV001829465 RCV006463210
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)	SNV Germline	ChrX:31177945	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10377651	rs_373898385	9 SubmittersRCV000522126 RCV000547278 RCV001829520 RCV005328292 RCV005407680
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)	SNV Germline	ChrX:31929709	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10378400	rs_758654750	5 SubmittersRCV000520793 RCV000552438 RCV001835837 RCV002367742 RCV004800443
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)	SNV Germline	ChrX:31968381	Conflicting classifications of pathogenicity	Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378442	rs_756238158	6 SubmittersRCV001829481 RCV002506267 RCV002527563 RCV006725852 RCV000523655
NM_004006.3(DMD):c.2362G>T (p.Val788Leu)	SNV Germline	ChrX:32501773	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379548	rs_756267575	4 SubmittersRCV000520240 RCV000799719 RCV001829499 RCV002456009
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)	SNV Germline	ChrX:32573603	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412673225	rs_1246969208	4 SubmittersRCV000518916 RCV001342906 RCV001834708 RCV004023615
NM_004006.3(DMD):c.940C>T (p.Arg314Trp)	SNV Germline	ChrX:32697890	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380024	rs_764526102	4 SubmittersRCV000727306 RCV001834684 RCV003512052
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)	SNV Germline	ChrX:31875235	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378353	rs_367747168	5 SubmittersRCV000560738 RCV000597909 RCV001834735 RCV003302776
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)	SNV Germline	ChrX:32216945	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328519363	rs_1023328955	4 SubmittersRCV000557446 RCV000766086 RCV001834733 RCV002367771
NM_004006.3(DMD):c.2804-1G>T	SNV Germline	ChrX:32472310	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412668289	rs_398123909	4 SubmittersRCV000538642 RCV000595227 RCV000984158 RCV000984159 RCV006640737
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)	SNV Germline	ChrX:31444582	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377941	rs_148643665	5 SubmittersRCV000541472 RCV000786300 RCV001835844 RCV002376999
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)	SNV Germline	ChrX:31478148	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10377970	rs_781748062	4 SubmittersRCV000526573 RCV001834739 RCV002376998 RCV003144316
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)	SNV Germline	ChrX:31479008	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10378025	rs_747605156	5 SubmittersRCV000593600 RCV001087437 RCV001834737 RCV002376996 RCV005407687
NM_004006.3(DMD):c.3432+2036A>G	SNV Germline	ChrX:32461403	Pathogenic/Likely pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype DMD-related disorder Neuromuscular disease caused by qualitative or quantitative defects of dystrophin	Criteria Provided Multiple Submitters No Conflicts	CA658658948	rs_182575709	7 SubmittersRCV000012039 RCV000537797 RCV001539084 RCV002341259 RCV004537895 RCV006264017
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)	SNV Germline	ChrX:32501838	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412673722	rs_1443021146	3 SubmittersRCV000529606 RCV001834724 RCV002448611
NM_004006.3(DMD):c.1309G>C (p.Ala437Pro)	SNV Germline	ChrX:32644154	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiovascular phenotype Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379930	rs_748964279	3 SubmittersRCV000540670 RCV000619591 RCV001834721
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)	SNV Germline	ChrX:31223070	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA412650856	rs_1556320083	7 SubmittersRCV000554971 RCV000788497 RCV001834740 RCV002377000 RCV002470903 RCV003470720
NM_004006.3(DMD):c.6614+7C>A	SNV Germline	ChrX:31968332	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10378437	rs_180719577	3 SubmittersRCV000592818 RCV001080691 RCV001829555
NM_004006.3(DMD):c.5946G>A (p.Met1982Ile)	SNV Germline	ChrX:32310253	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412670157	rs_1241760732	3 SubmittersRCV000531367 RCV001829552 RCV004992313
NM_004006.3(DMD):c.4561A>G (p.Met1521Val)	SNV Germline	ChrX:32386423	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378919	rs_757350813	4 SubmittersRCV000533577 RCV000594460 RCV001829547 RCV004609424
NM_004006.3(DMD):c.4467A>C (p.Glu1489Asp)	SNV Germline	ChrX:32389552	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378948	rs_373162382	3 SubmittersRCV000528126 RCV001835843 RCV002330825
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)	SNV Germline	ChrX:32645019	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA412661885	rs_1216968523	6 SubmittersRCV000537597 RCV001755793 RCV001829536 RCV002448610 RCV002483345
NM_004006.3(DMD):c.7310-1G>A	SNV Germline	ChrX:31774193	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412659203	rs_1556880354	4 SubmittersRCV000581374 RCV000583728 RCV006633930
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)	SNV Germline	ChrX:32485053	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy	No Assertion Criteria Provided	CA412670993	rs_1557380616	1 SubmittersRCV000582450 RCV000584311
NM_004006.3(DMD):c.93+5590T>A	SNV Germline	ChrX:33014549	Conflicting classifications of pathogenicity	Becker muscular dystrophy, atypical Condition: not provided Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA658799705	rs_1557211730	3 SubmittersRCV000012041 RCV000593739 RCV005416376
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)	SNV Germline	ChrX:31627807	Conflicting classifications of pathogenicity	Condition: not provided Heart failure Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378140	rs_755445214	6 SubmittersRCV000597484 RCV000853037 RCV001080147 RCV001829638 RCV002420567
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)	SNV Germline	ChrX:32697907	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380028	rs_145064612	5 SubmittersRCV000593736 RCV001057556 RCV001835861 RCV003160009
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)	SNV Germline	ChrX:31444607	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10377945	rs_755815057	5 SubmittersRCV000591694 RCV001084795 RCV001829639 RCV002448829 RCV004543320
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)	SNV Germline	ChrX:32454815	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10379263	rs_142967431	6 SubmittersRCV000597879 RCV001078543 RCV001834867 RCV002460092 RCV005404708
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)	SNV Germline	ChrX:31836748	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412659279	rs_770183212	5 SubmittersRCV000592773 RCV001824837 RCV005091553 RCV006640781
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)	SNV Germline	ChrX:31348628	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10377913	rs_143426249	7 SubmittersRCV000595090 RCV001083583 RCV001834873 RCV002377230 RCV005404709
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)	SNV Germline	ChrX:31729689	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378244	rs_748309027	5 SubmittersRCV000594188 RCV000726825 RCV001083037 RCV001834874 RCV002395523
NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)	SNV Germline	ChrX:32518051	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379593	rs_377539940	4 SubmittersRCV000591854 RCV000696509 RCV001829644 RCV002431747
NM_004006.3(DMD):c.6033A>G (p.Leu2011=)	SNV Germline	ChrX:32310166	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378555	rs_772889861	3 SubmittersRCV000592988 RCV001520191 RCV001834875
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)	SNV Germline	ChrX:32699122	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380069	rs_745868830	9 SubmittersRCV000596666 RCV000990742 RCV001193796 RCV001834876 RCV002431748
NM_004006.3(DMD):c.10608G>A (p.Leu3536=)	SNV Germline	ChrX:31147464	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10377562	rs_773786369	3 SubmittersRCV000591316 RCV001414365 RCV001835866
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)	SNV Germline	ChrX:31478337	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA328434466	rs_899851642	5 SubmittersRCV000591589 RCV001084887 RCV001834887 RCV003343932 RCV004543352
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)	SNV Germline	ChrX:32348447	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412667762	rs_1557294228	4 SubmittersRCV000592740 RCV003225949 RCV006640787
NM_004006.3(DMD):c.1603-6C>T	SNV Germline	ChrX:32573852	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379782	rs_774626474	4 SubmittersRCV000594742 RCV001080417 RCV001829653 RCV004530689
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)	SNV Germline	ChrX:32697967	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380040	rs_767304770	7 SubmittersRCV000594236 RCV001078515 RCV001829655 RCV002377235
NM_004006.3(DMD):c.8218-5T>C	SNV Germline	ChrX:31507458	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378108	rs_183643245	4 SubmittersRCV000592253 RCV001085740 RCV001829656 RCV003302914
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)	SNV Germline	ChrX:32645016	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379973	rs_763144501	6 SubmittersRCV000593770 RCV000689766 RCV001834893 RCV002483615 RCV006725886
NM_004006.3(DMD):c.1536C>A (p.His512Gln)	SNV Germline	ChrX:32595823	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379826	rs_776446238	7 SubmittersRCV000596734 RCV001066227 RCV001829661 RCV002483620 RCV004024789
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)	SNV Germline	ChrX:31658061	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378181	rs_757902182	4 SubmittersRCV000591422 RCV001444349 RCV001834898 RCV002420576
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)	SNV Germline	ChrX:31496827	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378059	rs_374374549	6 SubmittersRCV000596232 RCV001088390 RCV001834904 RCV004609451
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)	SNV Germline	ChrX:32343274	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378631	rs_144718274	5 SubmittersRCV000593288 RCV000706382 RCV001829679 RCV002350429
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)	SNV Germline	ChrX:31729706	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA10378248	rs_771509836	6 SubmittersRCV000591545 RCV000694041 RCV001834905 RCV002395538 RCV002498865 RCV004782466
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)	SNV Germline	ChrX:31836759	Pathogenic	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Duchenne and Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412659306	rs_1556930579	4 SubmittersRCV000593336 RCV001729648 RCV002368028 RCV003225950
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)	SNV Germline	ChrX:32365050	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378812	rs_775659020	5 SubmittersRCV000595108 RCV001079451 RCV001829685 RCV002341533
NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)	SNV Germline	ChrX:32411895	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA412666663	rs_1252905257	3 SubmittersRCV000616380 RCV001829724 RCV003117410
NM_004006.3(DMD):c.956C>T (p.Ser319Leu)	SNV Germline	ChrX:32697874	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 3B Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380021	rs_765986138	5 SubmittersRCV000602771 RCV001168122 RCV001829718 RCV002529409
NM_004006.3(DMD):c.9287-8C>T	SNV Germline	ChrX:31223129	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377833	rs_371035624	5 SubmittersRCV000730560 RCV001085435 RCV001834939
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)	SNV Germline	ChrX:31679535	Conflicting classifications of pathogenicity	not specified Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378223	rs_371588290	6 SubmittersRCV000606619 RCV001834944 RCV001860317 RCV003144392 RCV005044901 RCV006650290
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)	SNV Germline	ChrX:32438326	Conflicting classifications of pathogenicity	not specified Condition: not provided Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379136	rs_770827878	5 SubmittersRCV000606990 RCV000762616 RCV001456759 RCV001834940
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)	SNV Germline	ChrX:32463588	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379308	rs_183819382	4 SubmittersRCV001707829 RCV001834945 RCV002528581 RCV003380638
NM_004006.3(DMD):c.3030G>A (p.Ala1010=)	SNV Germline	ChrX:32468630	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379370	rs_72468666	6 SubmittersRCV000610644 RCV001167430 RCV001515770 RCV001829733 RCV002438610 RCV004533270
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)	SNV Germline	ChrX:32809588	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA412673954	rs_1168876204	4 SubmittersRCV000602873 RCV001834948 RCV002343164 RCV002531670
NM_004006.3(DMD):c.247G>A (p.Val83Ile)	SNV Germline	ChrX:32844800	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA412674667	rs_1358774744	4 SubmittersRCV000605014 RCV001829725 RCV004609456 RCV005091717
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)	SNV Germline	ChrX:31627837	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy not specified Conduction disorder of the heart Condition: not provided Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378144	rs_748937055	8 SubmittersRCV000620588 RCV000701669 RCV001002643 RCV001256881 RCV001356225 RCV001829737 RCV002483706
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)	SNV Germline	ChrX:31774143	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378284	rs_780283825	5 SubmittersRCV000617621 RCV000990618 RCV001165707 RCV001829742
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)	SNV Germline	ChrX:32362843	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378736	rs_201516290	3 SubmittersRCV000620543 RCV001244304 RCV002498994
NM_004006.3(DMD):c.4283A>G (p.Lys1428Arg)	SNV Germline	ChrX:32390132	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10378996	rs_371585389	5 SubmittersRCV000621783 RCV001246744 RCV001829740 RCV005231186 RCV005438014
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)	SNV Germline	ChrX:32438330	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy not specified Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379138	rs_745640786	5 SubmittersRCV000620924 RCV001211852 RCV001375537 RCV001829741 RCV002483710
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)	SNV Germline	ChrX:32464630	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy not specified Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379326	rs_375329908	7 SubmittersRCV000618045 RCV000811104 RCV001194450 RCV001834964 RCV002477343 RCV005632525
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)	SNV Germline	ChrX:32573593	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379739	rs_775846754	4 SubmittersRCV000618573 RCV001056880 RCV001834969 RCV002483707
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)	SNV Germline	ChrX:31223056	Conflicting classifications of pathogenicity	Primary familial dilated cardiomyopathy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377828	rs_200928985	6 SubmittersRCV000624887 RCV000764876 RCV000864788 RCV001086344 RCV002448913
NM_004006.3(DMD):c.7032A>G (p.Leu2344=)	SNV Germline	ChrX:31875254	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA515859508	rs_1556962392	4 SubmittersRCV001167298 RCV001445702 RCV001829768 RCV003162791
NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg)	SNV Germline	ChrX:32448529	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379202	rs_150333718	3 SubmittersRCV000630496 RCV001835882 RCV004025382
NM_004006.3(DMD):c.3663A>G (p.Val1221=)	SNV Germline	ChrX:32448579	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379211	rs_750549006	5 SubmittersRCV000732779 RCV001089181 RCV001829767 RCV004992411
NM_004006.3(DMD):c.7450G>C (p.Asp2484His)	SNV Germline	ChrX:31774052	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378274	rs_773102625	3 SubmittersRCV000630574 RCV001834995 RCV002385979
NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)	SNV Germline	ChrX:31507437	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328438215	rs_367735348	3 SubmittersRCV000630571 RCV001829760 RCV002413797
NM_004006.3(DMD):c.2764T>G (p.Phe922Val)	SNV Germline	ChrX:32484958	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379443	rs_185395584	3 SubmittersRCV000630507 RCV002492943 RCV003302981
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)	SNV Germline	ChrX:32644171	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412660927	rs_1556875224	3 SubmittersRCV000630516 RCV001254066
NM_004006.3(DMD):c.1602G>A (p.Lys534=)	SNV Germline	ChrX:32595757	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA515864146	rs_1556834513	3 SubmittersRCV000658058 RCV001051973 RCV006640818
NM_004006.3(DMD):c.7660+1G>C	SNV Germline	ChrX:31729630	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412657470	rs_1556852444	3 SubmittersRCV000659149 RCV001861709 RCV002249388
NM_004006.3(DMD):c.7597G>A (p.Ala2533Thr)	SNV Germline	ChrX:31729694	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378245	rs_369583884	4 SubmittersRCV000689796 RCV001830501 RCV004026338 RCV005231274
NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)	SNV Germline	ChrX:31820037	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412658594	rs_1569452000	2 SubmittersRCV000689427 RCV006642519
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)	SNV Germline	ChrX:31929645	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378392	rs_762708936	4 SubmittersRCV000695263 RCV001825359 RCV002369885 RCV002493199
NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)	SNV Germline	ChrX:31968489	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA328490657	rs_892121336	4 SubmittersRCV000706797 RCV002261195 RCV001835932
NM_004006.3(DMD):c.4201G>A (p.Val1401Met)	SNV Germline	ChrX:32411784	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379022	rs_139318945	4 SubmittersRCV000687555 RCV001830488 RCV006278004 RCV006725937
NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)	SNV Germline	ChrX:32448563	Pathogenic	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412662075	rs_1569562941	2 SubmittersRCV000693959 RCV005629573
NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)	SNV Germline	ChrX:32472213	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype Hereditary skeletal muscle disorder not specified	Criteria Provided Conflicting Classifications	CA10379415	rs_766400327	5 SubmittersRCV000685403 RCV001829891 RCV002440419 RCV005626152 RCV005405266
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)	SNV Germline	ChrX:32595773	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Condition: not provided Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328537368	rs_889238270	5 SubmittersRCV000705601 RCV001192550 RCV001766557 RCV001835931 RCV002397479
NM_004006.3(DMD):c.7783G>T (p.Val2595Phe)	SNV Germline	ChrX:31679464	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA412656742	rs_1254164861	4 SubmittersRCV000687333 RCV001829898 RCV004993944 RCV006732138
NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)	SNV Germline	ChrX:32448568	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10379209	rs_757482211	4 SubmittersRCV000698167 RCV002343498 RCV001825371 RCV006650398
NM_004006.3(DMD):c.2912A>T (p.Asp971Val)	SNV Germline	ChrX:32472201	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379411	rs_762154042	5 SubmittersRCV000694095 RCV000766089 RCV001825355 RCV003144525 RCV004609491
NM_004006.3(DMD):c.657T>A (p.Asp219Glu)	SNV Germline	ChrX:32699286	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380091	rs_771312947	3 SubmittersRCV000704007 RCV001825390 RCV002360816
NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)	SNV Germline	ChrX:31774052	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10378273	rs_773102625	3 SubmittersRCV000686901 RCV001829895 RCV003144488
NM_004006.3(DMD):c.7300A>G (p.Ile2434Val)	SNV Germline	ChrX:31819984	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328476079	rs_895117941	3 SubmittersRCV000696243 RCV001835921 RCV006725953
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)	SNV Germline	ChrX:32389514	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10378943	rs_745462674	3 SubmittersRCV000691402 RCV001830505 RCV003886430
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)	SNV Germline	ChrX:31169450	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412651672	rs_1569401103	4 SubmittersRCV000711448 RCV001861962 RCV006642537
NM_004006.3(DMD):c.4409G>A (p.Arg1470His)	SNV Germline	ChrX:32389610	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412663583	rs_752129019	5 SubmittersRCV000711458 RCV000797096 RCV001825418 RCV004026804
NM_004006.3(DMD):c.579A>T (p.Thr193=)	SNV Germline	ChrX:32809563	Conflicting classifications of pathogenicity	Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA515865985	rs_766344083	5 SubmittersRCV000727960 RCV001825444 RCV001521665 RCV002352238
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)	SNV Germline	ChrX:32386379	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378912	rs_374871728	4 SubmittersRCV000728217 RCV001083189 RCV001830597 RCV002334408
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	SNV Germline	ChrX:32348483	Pathogenic	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412667964	rs_1569559204	9 SubmittersRCV000728336 RCV000990647 RCV001825446
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)	SNV Germline	ChrX:31658007	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412655751	rs_1569186252	4 SubmittersRCV000728338 RCV001192551 RCV002533089 RCV006642543
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)	SNV Germline	ChrX:32342155	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412664875	rs_1569558906	3 SubmittersRCV000728846 RCV000824292 RCV005614444
NM_004006.3(DMD):c.3432+10A>G	SNV Germline	ChrX:32463429	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy not specified Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10379285	rs_746260475	5 SubmittersRCV000730530 RCV001089202 RCV001796199 RCV001825462
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)	SNV Germline	ChrX:32565775	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379685	rs_183677010	5 SubmittersRCV000731087 RCV000818063 RCV001830611 RCV002406666
NM_004006.3(DMD):c.1603-2A>C	SNV Germline	ChrX:32573848	Pathogenic/Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10379779	rs_773779441	3 SubmittersRCV000731599 RCV005897247 RCV006642553
NM_004006.3(DMD):c.772C>A (p.Pro258Thr)	SNV Germline	ChrX:32699171	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10380076	rs_773066825	4 SubmittersRCV000732416 RCV002397510 RCV002485916 RCV003117533
NM_004006.3(DMD):c.2293-8T>C	SNV Germline	ChrX:32501850	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency not specified	Criteria Provided Conflicting Classifications	CA10379562	rs_377050013	5 SubmittersRCV000732807 RCV001089054 RCV001825475 RCV004997259
NM_004006.3(DMD):c.531-10T>A	SNV Germline	ChrX:32809621	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA913190747	rs_747522183	4 SubmittersRCV000733117 RCV000819859 RCV001270446 RCV002249446
NM_004006.3(DMD):c.8426G>A (p.Arg2809His)	SNV Germline	ChrX:31496909	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378068	rs_778331600	5 SubmittersRCV000733196 RCV001227516 RCV001830633 RCV001592937 RCV003303219
NM_004006.3(DMD):c.8028G>A (p.Arg2676=)	SNV Germline	ChrX:31627862	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA515858972	rs_1237546420	3 SubmittersRCV000734423 RCV001036336 RCV001830638
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)	SNV Germline	ChrX:31774047	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378272	rs_765207227	6 SubmittersRCV000734758 RCV000807737 RCV001825485 RCV005240523 RCV005400742
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)	SNV Germline	ChrX:31444569	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications	CA10377940	rs_762577093	4 SubmittersRCV000823007 RCV001825669 RCV002372356 RCV000853172
NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)	SNV Germline	ChrX:31478140	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377969	rs_755061434	3 SubmittersRCV000807137 RCV001830761 RCV004994026
NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)	SNV Germline	ChrX:31627755	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378139	rs_751599201	3 SubmittersRCV000798429 RCV001825569 RCV002422724
NM_004006.3(DMD):c.6194G>T (p.Ser2065Ile)	SNV Germline	ChrX:32287625	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10378515	rs_767872954	3 SubmittersRCV000820213 RCV001825654 RCV003145205
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)	SNV Germline	ChrX:32310150	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378553	rs_201532491	5 SubmittersRCV000805105 RCV001174998 RCV001830745 RCV001169756 RCV002352378
NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)	SNV Germline	ChrX:32310257	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378562	rs_140575687	4 SubmittersRCV000808527 RCV001835972 RCV003145160 RCV004994029
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys)	SNV Germline	ChrX:32484937	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379441	rs_772679497	4 SubmittersRCV000809112 RCV001825612 RCV002440738 RCV005231365
NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)	SNV Germline	ChrX:32485018	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412670844	rs_1603634608	2 SubmittersRCV000819083 RCV005614453
NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)	SNV Germline	ChrX:32518091	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379601	rs_762960280	3 SubmittersRCV000820788 RCV001825657 RCV002427054
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)	SNV Germline	ChrX:32545258	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10379647	rs_762475657	5 SubmittersRCV000798504 RCV001825571 RCV003144608 RCV005436063
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	SNV Germline	ChrX:32614434	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412670439	rs_1602169535	3 SubmittersRCV000795920 RCV002249505
NM_004006.3(DMD):c.807T>A (p.His269Gln)	SNV Germline	ChrX:32699136	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328553819	rs_1038213947	3 SubmittersRCV000793012 RCV001825545 RCV003307424
NM_004006.3(DMD):c.445C>T (p.Arg149Cys)	SNV Germline	ChrX:32816553	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380155	rs_774139970	3 SubmittersRCV000797831 RCV001825563 RCV004027935
NM_004006.3(DMD):c.1705-2A>G	SNV Germline	ChrX:32573639	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412673308	rs_1601809011	4 SubmittersRCV000808723 RCV002290455 RCV006701685 RCV006642644
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)	SNV Germline	ChrX:31679394	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328462478	rs_972664841	4 SubmittersRCV000861346 RCV001425094 RCV001825708 RCV002409013
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)	SNV Germline	ChrX:32389592	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378955	rs_371646182	4 SubmittersRCV000862504 RCV001825715 RCV003330971 RCV005821808
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)	SNV Germline	ChrX:32438282	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379130	rs_187617705	4 SubmittersRCV000869085 RCV001169828 RCV001825742 RCV001619851
NM_004006.3(DMD):c.1688G>A (p.Arg563His)	SNV Germline	ChrX:32573761	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy not specified Dilated cardiomyopathy 3B Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379767	rs_191197223	5 SubmittersRCV000868351 RCV001201206 RCV001165933 RCV001830900 RCV002399911
NM_004006.3(DMD):c.8563T>C (p.Leu2855=)	SNV Germline	ChrX:31479088	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378034	rs_750917672	4 SubmittersRCV000874554 RCV001169689 RCV001830919 RCV002444951
NM_004006.3(DMD):c.1083A>G (p.Thr361=)	SNV Germline	ChrX:32645030	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy DMD-related disorder	Criteria Provided Conflicting Classifications	CA10379977	rs_767325921	6 SubmittersRCV000873431 RCV001168121 RCV001310703 RCV002427193 RCV001835995 RCV004738039
NM_004006.3(DMD):c.985T>A (p.Ser329Thr)	SNV Germline	ChrX:32645128	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10379987	rs_756590471	4 SubmittersRCV000876165 RCV001510543 RCV001830924
NM_004006.3(DMD):c.10830G>A (p.Thr3610=)	SNV Germline	ChrX:31146382	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328402772	rs_113604000	3 SubmittersRCV000951736 RCV001832199 RCV003380792
NM_004006.3(DMD):c.5728A>C (p.Arg1910=)	SNV Germline	ChrX:32343145	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378615	rs_761647447	4 SubmittersRCV000959363 RCV001169758 RCV001836038 RCV002346165
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)	SNV Germline	ChrX:32463492	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379296	rs_141887693	6 SubmittersRCV000902549 RCV001027922 RCV002502672 RCV002454076 RCV003145231
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)	SNV Germline	ChrX:32390088	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412663932	rs_1603632322	2 SubmittersRCV000990666 RCV004596384
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)	SNV Germline	ChrX:32565728	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412672283	rs_1603636537	4 SubmittersRCV000990721 RCV001784513 RCV004798878
NM_004006.3(DMD):c.196A>T (p.Lys66Ter)	SNV Germline	ChrX:32844851	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412674774	rs_1603447072	2 SubmittersRCV000990758 RCV006642693
NM_004006.3(DMD):c.3276+1G>C	SNV Germline	ChrX:32464585	Pathogenic/Likely pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412664667	rs_398123934	4 SubmittersRCV000991898 RCV002549770 RCV006642696
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)	SNV Germline	ChrX:32389636	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA10378959	rs_752977828	3 SubmittersRCV000999377 RCV001427740 RCV001827150
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)	SNV Germline	ChrX:31223056	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype DMD-related disorder	Criteria Provided Conflicting Classifications	CA328409358	rs_200928985	5 SubmittersRCV001001050 RCV001248680 RCV001832317 RCV002372726 RCV004738114
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)	SNV Germline	ChrX:31479042	Conflicting classifications of pathogenicity	not specified Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10378027	rs_373481995	5 SubmittersRCV001002379 RCV001038456 RCV001832322 RCV002445161 RCV002481802
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)	SNV Germline	ChrX:31478339	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA412654337	rs_1188233243	2 SubmittersRCV001035307 RCV002481840
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)	SNV Germline	ChrX:31147360	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA328402836	rs_935091512	6 SubmittersRCV001041741 RCV001832404 RCV002497372 RCV003160277 RCV003145270
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)	SNV Germline	ChrX:31177946	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412652612	rs_376745644	4 SubmittersRCV001059666 RCV002282444 RCV003462582 RCV006642819
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)	SNV Germline	ChrX:31178680	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377677	rs_367657320	3 SubmittersRCV001061054 RCV001832546 RCV002402434
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)	SNV Germline	ChrX:31180446	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency	Criteria Provided Conflicting Classifications	CA412653161	rs_2041037870	3 SubmittersRCV001055649 RCV001811633 RCV001832504
NM_004006.3(DMD):c.8723C>T (p.Ala2908Val)	SNV Germline	ChrX:31478320	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412654302	rs_2067972248	3 SubmittersRCV001051323 RCV001832471 RCV006347352
NM_004006.3(DMD):c.8159G>C (p.Arg2720Pro)	SNV Germline	ChrX:31627731	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412657177	rs_760495223	3 SubmittersRCV001054893 RCV001832498 RCV005821877
NM_004006.3(DMD):c.5788C>T (p.Arg1930Cys)	SNV Germline	ChrX:32342234	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412665183	rs_1295144399	3 SubmittersRCV001069430 RCV001836111 RCV006347389
NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)	SNV Germline	ChrX:32348449	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA327985119	rs_893536407	3 SubmittersRCV001070066 RCV001836113 RCV002348480
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)	SNV Germline	ChrX:32386380	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412662618	rs_1431604157	5 SubmittersRCV001048445 RCV001200317 RCV001827305 RCV003117723 RCV005540245
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)	SNV Germline	ChrX:32389643	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378960	rs_755835144	5 SubmittersRCV001044849 RCV001832425 RCV002327287 RCV003145277 RCV003233935
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)	SNV Germline	ChrX:32438358	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412669450	rs_2098269308	4 SubmittersRCV001063630 RCV001827408 RCV002497454 RCV004030498
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)	SNV Germline	ChrX:32454717	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379249	rs_374993642	5 SubmittersRCV001068128 RCV001827446 RCV001811639 RCV002339338
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)	SNV Germline	ChrX:32485005	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412670815	rs_375557173	3 SubmittersRCV001040916 RCV001836073 RCV002436548
NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)	SNV Germline	ChrX:32491300	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412671891	rs_1382610511	3 SubmittersRCV001057816 RCV001836097 RCV003160465
NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)	SNV Germline	ChrX:32565740	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412672359	rs_1488881909	3 SubmittersRCV001052814 RCV001827330 RCV002416394
NM_004006.3(DMD):c.1534C>T (p.His512Tyr)	SNV Germline	ChrX:32595825	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379827	rs_147136371	5 SubmittersRCV001048801 RCV001827307 RCV003145291 RCV002489603 RCV004031527
NM_004006.3(DMD):c.1463G>A (p.Arg488His)	SNV Germline	ChrX:32614322	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA412669776	rs_794727065	3 SubmittersRCV001037954 RCV001832385 RCV002489548
NM_004006.3(DMD):c.940C>G (p.Arg314Gly)	SNV Germline	ChrX:32697890	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412668416	rs_764526102	3 SubmittersRCV001051755 RCV001832475 RCV002374908
NM_004006.3(DMD):c.7310-5T>G	SNV Germline	ChrX:31774197	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA916081253	rs_2090517382	3 SubmittersRCV001048669 RCV001832455 RCV004031523
NM_004006.3(DMD):c.2804-1G>C	SNV Germline	ChrX:32472310	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412668288	rs_398123909	3 SubmittersRCV001042956 RCV001784585 RCV006642764
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)	SNV Germline	ChrX:31478158	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype not specified Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10377973	rs_151087470	6 SubmittersRCV001167230 RCV001247077 RCV001833724 RCV003339522 RCV003230638 RCV005039991
NM_004006.3(DMD):c.7236G>A (p.Ala2412=)	SNV Germline	ChrX:31820048	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378308	rs_149003002	3 SubmittersRCV001165710 RCV001828581 RCV001474079
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)	SNV Germline	ChrX:31932219	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10378419	rs_139937177	5 SubmittersRCV001167893 RCV001224835 RCV001833726 RCV002365820 RCV003438705
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)	SNV Germline	ChrX:31178679	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 3B Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10377676	rs_770516401	3 SubmittersRCV001197492 RCV002484071 RCV003621588
NM_004006.3(DMD):c.4745T>C (p.Val1582Ala)	SNV Germline	ChrX:32380610	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378872	rs_147231219	3 SubmittersRCV001225000 RCV001833944 RCV004609679
NM_004006.3(DMD):c.2312C>T (p.Ala771Val)	SNV Germline	ChrX:32501823	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Dilated cardiomyopathy 3B Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA412673690	rs_1245604423	5 SubmittersRCV001218999 RCV001828743 RCV002227510 RCV003380895 RCV002484188
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)	SNV Germline	ChrX:31209557	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10377796	rs_185247491	4 SubmittersRCV001206434 RCV001828655 RCV002375142 RCV002484115
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)	SNV Germline	ChrX:31507350	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10378095	rs_750419527	3 SubmittersRCV001206730 RCV001833814 RCV002484117
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)	SNV Germline	ChrX:31679448	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Condition: not provided Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378211	rs_747127624	4 SubmittersRCV001213365 RCV001833868 RCV003145394 RCV002491654
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)	SNV Germline	ChrX:32343220	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412666024	rs_1295935628	3 SubmittersRCV001204983 RCV002249793
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)	SNV Germline	ChrX:32380627	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378876	rs_757160024	4 SubmittersRCV001204219 RCV001833796 RCV002484103 RCV004994321
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)	SNV Germline	ChrX:32438255	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412669229	rs_907237595	3 SubmittersRCV001202967 RCV001785794 RCV006636650
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)	SNV Germline	ChrX:32472187	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412667864	rs_767387334	3 SubmittersRCV001207235 RCV002249797
NM_004006.3(DMD):c.2780C>T (p.Ala927Val)	SNV Germline	ChrX:32484942	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy Dystrophin deficiency Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379442	rs_41312094	4 SubmittersRCV001202745 RCV001828627 RCV001812246 RCV004609653
NM_004006.3(DMD):c.11015-5T>A	SNV Germline	ChrX:31126678	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377478	rs_753104670	4 SubmittersRCV001225092 RCV001828793 RCV002484220 RCV002429953
NM_004006.3(DMD):c.3162+1G>A	SNV Germline	ChrX:32468497	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412666728	rs_1335666832	2 SubmittersRCV001215695 RCV002249807
NM_004006.3(DMD):c.8543A>G (p.His2848Arg)	SNV Germline	ChrX:31496792	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378055	rs_146890210	3 SubmittersRCV001228187 RCV001828821 RCV002447143
NM_004006.3(DMD):c.6854C>T (p.Pro2285Leu)	SNV Germline	ChrX:31929654	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA412657883	rs_1438782223	3 SubmittersRCV001237587 RCV001828891 RCV005909125
NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)	SNV Germline	ChrX:31147411	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377549	rs_199974153	3 SubmittersRCV001241137 RCV001828968 RCV005550219
NM_004006.3(DMD):c.9395C>A (p.Ala3132Asp)	SNV Germline	ChrX:31209666	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377812	rs_200592992	3 SubmittersRCV001243800 RCV001835184 RCV005550222
NM_004006.3(DMD):c.8137A>G (p.Asn2713Asp)	SNV Germline	ChrX:31627753	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10378138	rs_766553671	3 SubmittersRCV001245734 RCV001836238 RCV005232212
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)	SNV Germline	ChrX:31658072	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA328460869	rs_1015097529	4 SubmittersRCV001239674 RCV001828929 RCV002418820 RCV003145460
NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)	SNV Germline	ChrX:31679452	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412656715	rs_1569220550	3 SubmittersRCV001240351 RCV001828948 RCV004034647
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)	SNV Germline	ChrX:31679536	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10378224	rs_757011771	4 SubmittersRCV001239737 RCV001828933 RCV002480788 RCV002402758
NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly)	SNV Germline	ChrX:32343213	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA412665984	rs_1239878805	4 SubmittersRCV001239695 RCV001836202 RCV004994362 RCV006279489
NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)	SNV Germline	ChrX:32464669	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379329	rs_774756042	3 SubmittersRCV001241818 RCV001828986 RCV002322148
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)	SNV Germline	ChrX:32545225	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10379640	rs_772229363	3 SubmittersRCV001246815 RCV001664779 RCV001835282
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)	SNV Germline	ChrX:32573588	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379737	rs_376238937	5 SubmittersRCV001243370 RCV001835166 RCV002402773 RCV003145473
NM_004006.3(DMD):c.941G>T (p.Arg314Leu)	SNV Germline	ChrX:32697889	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380023	rs_751164104	5 SubmittersRCV001288598 RCV001248477 RCV001836249 RCV002375306
NM_004006.3(DMD):c.479C>A (p.Thr160Asn)	SNV Germline	ChrX:32816519	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380150	rs_748752465	4 SubmittersRCV001242139 RCV001828991 RCV003145468 RCV004034706
NM_004006.3(DMD):c.244C>T (p.Arg82Trp)	SNV Germline	ChrX:32844803	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10380219	rs_772546251	3 SubmittersRCV001239249 RCV001834080 RCV002447190
NM_004006.3(DMD):c.2949+2T>C	SNV Germline	ChrX:32472162	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Condition: not provided Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412667682	rs_2040709857	5 SubmittersRCV001226167 RCV002222680 RCV002276666 RCV003462772 RCV006636702
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)	SNV Germline	ChrX:32645026	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412661913	rs_2059695805	2 SubmittersRCV001250160 RCV006636748
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)	SNV Germline	ChrX:31929661	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Condition: not provided Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378394	rs_751145927	5 SubmittersRCV001256877 RCV001586095 RCV001830058 RCV002366096 RCV002570611
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)	SNV Germline	ChrX:32438330	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412669391	rs_745640786	2 SubmittersRCV001261532 RCV004796395
NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)	SNV Germline	ChrX:32342228	Pathogenic/Likely pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Progressive muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412665158	rs_2097747388	2 SubmittersRCV001263657 RCV006694898
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)	SNV Germline	ChrX:32365066	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Progressive muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412671906	rs_2097849830	4 SubmittersRCV002537663 RCV005614508 RCV006694940 RCV006730492
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)	SNV Germline	ChrX:31929685	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Single Submitter	CA412657942	rs_2094828872	2 SubmittersRCV001290526 RCV001835379
NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)	SNV Germline	ChrX:31134165	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10377499	rs_766599250	3 SubmittersRCV001299903 RCV001830166 RCV003382506
NM_004006.3(DMD):c.5684A>T (p.Asp1895Val)	SNV Germline	ChrX:32343189	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA10378623	rs_376202643	3 SubmittersRCV001300104 RCV001830169 RCV005236776
NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)	SNV Germline	ChrX:32484946	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA328015880	rs_1055371114	3 SubmittersRCV001306946 RCV001830234 RCV002437047
NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser)	SNV Germline	ChrX:31875222	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412659932	rs_1366729351	3 SubmittersRCV001314390 RCV001830280 RCV005330682
NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu)	SNV Germline	ChrX:32310230	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiomyopathy Becker muscular dystrophy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA328532036	rs_961227665	3 SubmittersRCV001315589 RCV001830295
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)	SNV Germline	ChrX:32390121	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412664039	rs_1603632326	5 SubmittersRCV001325184 RCV001836313 RCV003490192 RCV004995683
NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)	SNV Germline	ChrX:32448565	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379208	rs_752521629	3 SubmittersRCV001317433 RCV001830305 RCV004034426
NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)	SNV Germline	ChrX:32463545	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Cardiovascular phenotype Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA412664525	rs_200596739	5 SubmittersRCV001323313 RCV002322246 RCV001836311 RCV004998822
NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)	SNV Germline	ChrX:32464687	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Cardiomyopathy Becker muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379333	rs_763548540	3 SubmittersRCV001324897 RCV001830996 RCV002322250
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)	SNV Germline	ChrX:32501789	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Conflicting Classifications	CA10379553	rs_150692967	4 SubmittersRCV001327732 RCV001830389 RCV002447382 RCV002493712
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)	SNV Germline	ChrX:32614397	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA412670120	rs_863224981	5 SubmittersRCV001317193 RCV001664821 RCV001836295 RCV002486251 RCV006726221
NM_004006.3(DMD):c.969A>T (p.Glu323Asp)	SNV Germline	ChrX:32645144	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Dystrophin deficiency Cardiomyopathy Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10379991	rs_774626343	3 SubmittersRCV001337184 RCV001836321 RCV003145580
NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)	SNV Germline	ChrX:32343191	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Condition: not provided Dystrophin deficiency Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA412665866	rs_779574344	3 SubmittersRCV001362201 RCV006279635 RCV001831227
NM_004006.3(DMD):c.1812+5G>A	SNV Germline	ChrX:32573525	Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA1139768237	rs_2149136134	2 SubmittersRCV001726537 RCV006636829
NM_004006.3(DMD):c.10262+1G>T	SNV Germline	ChrX:31177931	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency not specified	Criteria Provided Conflicting Classifications	CA412652581	rs_145603325	3 SubmittersRCV001378126 RCV001826135 RCV002246356
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)	SNV Germline	ChrX:31496919	Pathogenic	Duchenne muscular dystrophy Condition: not provided Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA412655637	rs_2147076500	4 SubmittersRCV001384486 RCV001780338 RCV001831388 RCV002447512
NM_004006.3(DMD):c.568C>T (p.Gln190Ter)	SNV Germline	ChrX:32809574	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy	Criteria Provided Single Submitter	CA412673924	rs_2148751523	2 SubmittersRCV001383372 RCV001826163
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)	SNV Germline	ChrX:32491467	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA328020020	rs_868641814	3 SubmittersRCV001433672 RCV001831490 RCV003145662
NM_004006.3(DMD):c.3777G>A (p.Lys1259=)	SNV Germline	ChrX:32448465	Conflicting classifications of pathogenicity	Cardiovascular phenotype Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Conflicting Classifications	CA515714947	rs_1445951268	3 SubmittersRCV003382596 RCV001469209 RCV001826298
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)	SNV Germline	ChrX:32448546	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy Dystrophin deficiency Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10379205	rs_369971712	4 SubmittersRCV001476573 RCV001826307 RCV002359070 RCV003145669
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)	SNV Germline	ChrX:32491427	Conflicting classifications of pathogenicity	Duchenne muscular dystrophy Duchenne muscular dystrophy Dystrophin deficiency Becker muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10379514	rs_778811645	4 SubmittersRCV001455588 RCV001826280 RCV002449224
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)	SNV Germline	ChrX:32342159	Conflicting classifications of pathogenicity	Condition: not provided Duchenne muscular dystrophy Cardiovascular phenotype Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA10378586	rs_377039314	4 SubmittersRCV001531764 RCV002568898 RCV002359155 RCV002495860
NM_004006.3(DMD):c.6576G>A (p.Trp2192Ter)	SNV Germline	ChrX:31968377	Pathogenic	Abnormality of the musculature Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA412659545	rs_764789298	3 SubmittersRCV001814529 RCV006257337 RCV005914611
NM_004006.3(DMD):c.3163-1G>T	SNV Germline	ChrX:32464700	Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412665222	rs_2148428395	4 SubmittersRCV001551244 RCV005916134 RCV006637045
NM_004006.3(DMD):c.71G>A (p.Trp24Ter)	SNV Germline	ChrX:33020161	Pathogenic/Likely pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412675260	rs_2147755143	2 SubmittersRCV001730116 RCV002471139
NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter)	SNV Unknown	ChrX:32343241	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412666201	rs_2146992010	1 SubmittersRCV001775054
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)	SNV Germline	ChrX:32472240	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412668088	rs_2148485357	1 SubmittersRCV002246486
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)	SNV Germline	ChrX:31260992	Pathogenic	Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412652513	rs_2147649257	2 SubmittersRCV002246487 RCV006638932
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)	SNV Germline	ChrX:31348610	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412653767	rs_2148492200	1 SubmittersRCV002246488
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)	SNV Germline	ChrX:32454709	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B	Criteria Provided Multiple Submitters No Conflicts	CA327996980	rs_868836192	3 SubmittersRCV001781699 RCV001868835 RCV004796658
NM_004006.3(DMD):c.5637G>A (p.Trp1879Ter)	SNV Germline	ChrX:32343236	Pathogenic	Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_865856945	1 SubmittersRCV004796900
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)	SNV Germline	ChrX:31875313	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412660141	rs_781054741	1 SubmittersRCV002246489
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)	SNV Germline	ChrX:31679497	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412656820	rs_2148733515	1 SubmittersRCV002246490
NM_004006.3(DMD):c.960+1G>T	SNV Germline	ChrX:32697869	Likely pathogenic	Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10380017	rs_199783662	3 SubmittersRCV001781755 RCV006638933
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)	SNV Germline	ChrX:32614410	Pathogenic/Likely pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412670260	rs_2149350253	2 SubmittersRCV002503263 RCV002541122
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)	SNV Germline	ChrX:32501770	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412673581	rs_763844939	1 SubmittersRCV002246491
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)	SNV Germline	ChrX:32485053	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412670992	rs_1557380616	2 SubmittersRCV002034548 RCV002246492
NM_004006.3(DMD):c.4518+1G>T	SNV Germline	ChrX:32389500	Pathogenic	Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412662903	rs_2147610408	2 SubmittersRCV001781826 RCV006638934
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)	SNV Germline	ChrX:32287533	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412665515	rs_2148456401	1 SubmittersRCV002246493
NM_004006.3(DMD):c.4845+2T>C	SNV Germline	ChrX:32380508	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter		rs_1557315881	1 SubmittersRCV004819271
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)	SNV Unknown	ChrX:31679392	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412656586	rs_2148732436	1 SubmittersRCV003466208
NM_004006.3(DMD):c.394C>T (p.Gln132Ter)	SNV Germline	ChrX:32816604	Pathogenic	Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412674311	rs_2148807584	2 SubmittersRCV002246494 RCV005614675
NM_004006.3(DMD):c.709C>T (p.Gln237Ter)	SNV Germline	ChrX:32699234	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412669056	rs_2147605826	1 SubmittersRCV002246495
NM_004006.3(DMD):c.1704+1G>T	SNV Germline	ChrX:32573744	Pathogenic	Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412673313	rs_794727123	2 SubmittersRCV002471158 RCV002541127
NM_004006.3(DMD):c.2623-2A>G	SNV Germline	ChrX:32485101	Pathogenic	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412671192	rs_2148584710	2 SubmittersRCV003513665 RCV004796831
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)	SNV Germline	ChrX:32844839	Pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412674751	rs_2080510348	2 SubmittersRCV001781978 RCV002246496
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)	SNV Germline	ChrX:32595849	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412665671	rs_2149265022	3 SubmittersRCV002254357 RCV003512133 RCV006638935
NM_004006.3(DMD):c.8111G>A (p.Trp2704Ter)	SNV Germline	ChrX:31627779	Pathogenic	Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy	Criteria Provided Single Submitter		rs_2148422718	1 SubmittersRCV005041767
NM_004006.3(DMD):c.9001C>T (p.Gln3001Ter)	SNV Germline	ChrX:31444564	Pathogenic	Condition: not provided Duchenne muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2149075577	3 SubmittersRCV004588833 RCV005871523 RCV006637119
NM_004006.3(DMD):c.8668+1G>A	SNV Germline	ChrX:31478982	Pathogenic	Condition: not provided Becker muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412654423	rs_2149256957	2 SubmittersRCV001782087 RCV001843311
NM_004006.3(DMD):c.960+2T>G	SNV Germline	ChrX:32697868	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dystrophin Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Duchenne muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_776457078	5 SubmittersRCV004700068 RCV005051470 RCV005618373 RCV006474533 RCV006605419
NM_004006.3(DMD):c.1603-1G>A	SNV Germline	ChrX:32573847	Likely pathogenic	Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter		rs_2149139061	2 SubmittersRCV005613393 RCV005934587
NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)	SNV Unknown	ChrX:32464606	Pathogenic	Duchenne muscular dystrophy Becker muscular dystrophy	Criteria Provided Single Submitter	CA412664764	rs_745585519	1 SubmittersRCV001799532
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)	SNV Unknown	ChrX:32454703	Pathogenic	Becker muscular dystrophy	Criteria Provided Single Submitter	CA412662972	rs_2148348451	1 SubmittersRCV003466207
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)	SNV Germline	ChrX:32411835	Pathogenic	Becker muscular dystrophy Condition: not provided Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412666404	rs_2147935387	3 SubmittersRCV002246497 RCV005428418 RCV006638936
NM_004006.3(DMD):c.4518+1G>A	SNV Germline	ChrX:32389500	Pathogenic	Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Single Submitter		rs_2147610408	1 SubmittersRCV006641816
NM_004006.3(DMD):c.5449-1G>A	SNV Germline	ChrX:32346081	Likely pathogenic	Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency	Criteria Provided Single Submitter		rs_2147033447	1 SubmittersRCV005613254

NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)

SNV
Germline

ChrX:31444621

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273079

rs_128625229

8 SubmittersRCV000011962 RCV000150056 RCV006605185 RCV006638602

NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)

SNV
Germline

ChrX:31178784

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273073

rs_104894787

11 SubmittersRCV000011964 RCV000180033 RCV000710121 RCV005042033 RCV006638603

NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)

SNV
Germline

ChrX:32501833

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Nonpapillary renal cell carcinoma
Progressive muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273097

rs_201366610

8 SubmittersRCV000011973 RCV000727553 RCV005887435 RCV005632173 RCV006638604

NM_004006.3(DMD):c.433C>T (p.Arg145Ter)

SNV
Germline

ChrX:32816565

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273103

rs_128626235

12 SubmittersRCV000011976 RCV000255815 RCV005049333 RCV006688343 RCV006638605

NM_004006.3(DMD):c.2380+3A>C

SNV
Germline

ChrX:32501752

Pathogenic

Becker muscular dystrophy

No Assertion Criteria Provided

CA913184728

rs_1569564916

1 SubmittersRCV000011977

NM_004006.3(DMD):c.8548-1G>C

SNV
Germline

ChrX:31479104

Pathogenic

Becker muscular dystrophy
Thyroid cancer, nonmedullary, 1

No Assertion Criteria Provided

CA412654697

rs_1569546198

2 SubmittersRCV000011978 RCV005887436

NM_004006.3(DMD):c.94-1G>T

SNV
Germline

ChrX:32849821

Conflicting classifications of pathogenicity

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412675012

rs_863225016

4 SubmittersRCV000011988 RCV000990759 RCV001781232

NM_004006.3(DMD):c.178C>T (p.Gln60Ter)

SNV
Germline

ChrX:32849736

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341040

rs_128626233

5 SubmittersRCV000011990 RCV000517214 RCV001831561

NM_004006.3(DMD):c.691T>A (p.Tyr231Asn)

SNV
Germline

ChrX:32699252

Pathogenic

Becker muscular dystrophy

No Assertion Criteria Provided

CA255761

rs_128626237

1 SubmittersRCV000011992

NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)

SNV
Germline

ChrX:32595870

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA341052

rs_128626241

5 SubmittersRCV000011999 RCV001781237 RCV005614369

NM_004006.3(DMD):c.1602G>T (p.Lys534Asn)

SNV
Germline

ChrX:32595757

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412665250

rs_1556834513

2 SubmittersRCV000012000 RCV005089230

NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)

SNV
Germline

ChrX:32342123

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273091

rs_128626249

9 SubmittersRCV000012009 RCV000711463 RCV002354155 RCV006638606

NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)

SNV
Germline

ChrX:31178751

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
X-linked DMD-related dystrophinopathy
Abnormality of the musculature
See cases
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
DMD-related muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA273070

rs_104894790

13 SubmittersRCV000012024 RCV000437942 RCV000985010 RCV001813973 RCV002287331 RCV006638607 RCV006741214

NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter)

SNV
Germline

ChrX:32448611

Pathogenic

Becker muscular dystrophy

No Assertion Criteria Provided

CA255773

rs_267606771

1 SubmittersRCV000012031

NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)

SNV
Germline

ChrX:31206663

Pathogenic

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA273076

rs_104894797

12 SubmittersRCV000012033 RCV000150055 RCV000723477 RCV005237369 RCV006638608

NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)

SNV
Germline

ChrX:32438372

Pathogenic

Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA255776

rs_5030730

12 SubmittersRCV000012034 RCV000183404 RCV000201024 RCV003323357 RCV005403718

NM_004006.3(DMD):c.9225-285A>G

SNV
Germline

ChrX:31261301

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA255779

rs_587776747

6 SubmittersRCV000012038 RCV000727267 RCV000803254

NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)

SNV
Germline

ChrX:31478330

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA273082

rs_128627256

8 SubmittersRCV000012040 RCV000150057 RCV000515392

NM_004006.3(DMD):c.9G>A (p.Trp3Ter)

SNV
Germline

ChrX:33211304

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA259713

rs_398122853

14 SubmittersRCV000022854 RCV000173322 RCV000183395 RCV000984166 RCV001264540 RCV006638711

NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)

SNV
Germline

ChrX:31180423

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266851

rs_398123827

8 SubmittersRCV000179687 RCV000518692 RCV006638827

NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)

SNV
Germline

ChrX:31178721

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Abnormality of the musculature
Cardiovascular phenotype
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266859

rs_398123832

12 SubmittersRCV000180030 RCV000183403 RCV000763209 RCV001814051 RCV005809218 RCV006638828

NM_004006.3(DMD):c.10223+1G>A

SNV
Germline

ChrX:31178668

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Intermediate muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Cardiovascular phenotype
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266865

rs_398123834

12 SubmittersRCV000080415 RCV001386712 RCV001797983 RCV003323388 RCV005549909 RCV006638829

NM_004006.3(DMD):c.10863C>T (p.Ser3621=)

SNV
Germline

ChrX:31146349

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222284

rs_398123847

4 SubmittersRCV000080433 RCV001826723 RCV001396275 RCV005821657

NM_004006.3(DMD):c.10921+5G>A

SNV
Germline

ChrX:31146286

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222287

rs_398123848

3 SubmittersRCV000080434 RCV001086288 RCV001826724

NM_004006.3(DMD):c.1311T>G (p.Ala437=)

SNV
Germline

ChrX:32644152

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222295

rs_398123855

5 SubmittersRCV000080442 RCV001088936 RCV000723667 RCV001831828 RCV002381399

NM_004006.3(DMD):c.1337A>G (p.His446Arg)

SNV
Germline

ChrX:32614448

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285523

rs_72468699

7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772

NM_004006.3(DMD):c.137A>T (p.Asp46Val)

SNV
Germline

ChrX:32849777

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA266886

rs_398123858

3 SubmittersRCV001061449 RCV003144125 RCV006699199

NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)

SNV
Germline

ChrX:32573834

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266898

rs_398123865

8 SubmittersRCV000080461 RCV000174745 RCV004796006 RCV005401326 RCV006697685

NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)

SNV
Germline

ChrX:32573611

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285532

rs_150199251

10 SubmittersRCV000235164 RCV000723549 RCV000619753 RCV001079116 RCV001831832 RCV004542773

NM_004006.3(DMD):c.1848C>A (p.Ser616=)

SNV
Germline

ChrX:32565846

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222307

rs_376024929

7 SubmittersRCV000080467 RCV000723432 RCV001082698 RCV001826729 RCV002408607

NM_004006.3(DMD):c.1997C>T (p.Ser666Leu)

SNV
Germline

ChrX:32545330

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA285538

rs_34563188

15 SubmittersRCV000080474 RCV000250691 RCV000711450 RCV000853044 RCV001084848 RCV001165928 RCV001826731

NM_004006.3(DMD):c.2457A>C (p.Leu819=)

SNV
Germline

ChrX:32491442

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222318

rs_72468680

12 SubmittersRCV000225698 RCV000723550 RCV001082131 RCV001168044 RCV002444548 RCV001826736

NM_004006.3(DMD):c.2490C>T (p.Asn830=)

SNV
Germline

ChrX:32491409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222321

rs_72468679

14 SubmittersRCV000223516 RCV000558620 RCV000621463 RCV001168043 RCV001080824 RCV001831837

NM_004006.3(DMD):c.2622+1G>A

SNV
Germline

ChrX:32491276

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266948

rs_398123901

3 SubmittersRCV000080514 RCV001053382 RCV006638832

NM_004006.3(DMD):c.2804-1G>A

SNV
Germline

ChrX:32472310

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266957

rs_398123909

4 SubmittersRCV000080525 RCV001050125 RCV006638833

NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)

SNV
Germline

ChrX:32472286

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222348

rs_199986217

10 SubmittersRCV000080527 RCV000618497 RCV000845504 RCV000990698 RCV001167433 RCV001831839

NM_004006.3(DMD):c.2828G>A (p.Arg943His)

SNV
Germline

ChrX:32472285

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222351

rs_398123911

4 SubmittersRCV000723655 RCV001512615 RCV001826739

NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)

SNV
Germline

ChrX:32472247

Pathogenic

Abnormality of the musculature
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266961

rs_398123912

4 SubmittersRCV001814053 RCV001854419 RCV005630248 RCV006638834

NM_004006.3(DMD):c.31+1G>T

SNV
Germline

ChrX:33211281

Pathogenic

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA266984

rs_398123923

11 SubmittersRCV000080542 RCV000183396 RCV000808328 RCV001831841 RCV002321576 RCV006257269

NM_004006.3(DMD):c.31+36949C>T

SNV
Germline

ChrX:33174333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222358

rs_182597890

7 SubmittersRCV000225710 RCV000723492 RCV001826742 RCV004537357

NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)

SNV
Germline

ChrX:32468509

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA266988

rs_398123929

13 SubmittersRCV000201197 RCV000627237 RCV000763210 RCV001526893 RCV006638835

NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)

SNV
Germline

ChrX:32464645

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222373

rs_398123931

8 SubmittersRCV000080568 RCV001257055 RCV001826743 RCV002321577

NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)

SNV
Germline

ChrX:32463576

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266994

rs_398123935

5 SubmittersRCV000176552 RCV000176553 RCV000627261

NM_004006.3(DMD):c.3419A>G (p.His1140Arg)

SNV
Germline

ChrX:32463452

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222380

rs_201297190

9 SubmittersRCV000723384 RCV001081258 RCV001831843 RCV002453402 RCV005431466

NM_004006.3(DMD):c.4233+2C>T

SNV
Germline

ChrX:32411750

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA090924

rs_147474070

18 SubmittersRCV000080605 RCV000243182 RCV000467777 RCV000853040 RCV000710122 RCV001831849 RCV001167970 RCV004537359

NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)

SNV
Germline

ChrX:32389644

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267021

rs_398123953

8 SubmittersRCV000201013 RCV000727564 RCV001174851 RCV001831852

NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)

SNV
Germline

ChrX:32389614

Pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267024

rs_398123954

3 SubmittersRCV000727593 RCV003466992

NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)

SNV
Germline

ChrX:32380611

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222407

rs_398123965

9 SubmittersRCV000333923 RCV000630633 RCV000444690 RCV001831853 RCV001705750 RCV004019555 RCV004737190

NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)

SNV
Germline

ChrX:32365049

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA267046

rs_398123973

10 SubmittersRCV000516386 RCV000545335 RCV003323389 RCV006638836

NM_004006.3(DMD):c.5181A>T (p.Ile1727=)

SNV
Germline

ChrX:32362932

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222423

rs_200887855

10 SubmittersRCV000080645 RCV000723693 RCV001081480 RCV001831856 RCV002336233

NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)

SNV
Germline

ChrX:32362931

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285577

rs_34102501

17 SubmittersRCV000212487 RCV000514541 RCV000621386 RCV001085478 RCV001167365 RCV001826752 RCV004537360

NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)

SNV
Germline

ChrX:32362826

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267055

rs_398123981

7 SubmittersRCV000080648 RCV000177912 RCV001000065 RCV001198765 RCV001826753

NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)

SNV
Germline

ChrX:32362825

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA222426

rs_398123982

7 SubmittersRCV000585494 RCV000794522 RCV001002261 RCV001826754 RCV004017393 RCV005886452

NM_004006.3(DMD):c.531-2A>C

SNV
Unknown

ChrX:32809613

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

rs_398123985

1 SubmittersRCV004575829

NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)

SNV
Germline

ChrX:32345999

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Colorectal cancer
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA267064

rs_1064325

12 SubmittersRCV000080659 RCV000178001 RCV004796007 RCV005886453 RCV006638837

NM_004006.3(DMD):c.5586+9G>A

SNV
Germline

ChrX:32345934

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222436

rs_200025478

9 SubmittersRCV000080664 RCV000361961 RCV000463221 RCV001831859 RCV001811372 RCV004542777

NM_004006.3(DMD):c.5658T>C (p.Ala1886=)

SNV
Germline

ChrX:32343215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222437

rs_398123994

5 SubmittersRCV000080667 RCV000723644 RCV001088624 RCV001831860 RCV002345394

NM_004006.3(DMD):c.5827A>G (p.Met1943Val)

SNV
Germline

ChrX:32342195

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA222441

rs_181849614

6 SubmittersRCV000080673 RCV001086404 RCV001169757 RCV001831862 RCV002354277 RCV004542778

NM_004006.3(DMD):c.583C>T (p.Arg195Ter)

SNV
Germline

ChrX:32809559

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA267083

rs_398123999

8 SubmittersRCV000179875 RCV000338327 RCV001274385 RCV002498417

NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)

SNV
Germline

ChrX:32310215

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA147837

rs_147927593

10 SubmittersRCV000622085 RCV000711464 RCV001081041 RCV001835677 RCV002498418 RCV005403760

NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)

SNV
Germline

ChrX:32310199

Pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267090

rs_398124002

2 SubmittersRCV000178497 RCV002247478

NM_004006.3(DMD):c.606C>T (p.Ile202=)

SNV
Germline

ChrX:32809536

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA222444

rs_138335295

6 SubmittersRCV000080681 RCV001082735 RCV001831863 RCV002354278 RCV003323390

NM_004006.3(DMD):c.6195T>C (p.Ser2065=)

SNV
Germline

ChrX:32287624

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA222450

rs_398124006

3 SubmittersRCV000080686 RCV001444484 RCV001831864

NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)

SNV
Germline

ChrX:32217034

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
DMD-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA285586

rs_142807436

12 SubmittersRCV000723715 RCV000853038 RCV001167894 RCV001835678 RCV001083222 RCV002354279 RCV004537361 RCV002265600

NM_004006.3(DMD):c.6471T>A (p.Thr2157=)

SNV
Germline

ChrX:31968482

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA222478

rs_377080659

6 SubmittersRCV000080735 RCV000294282 RCV000617199 RCV001086507 RCV001831866

NM_004006.3(DMD):c.6763-2A>G

SNV
Germline

ChrX:31929747

Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA267113

rs_398124033

4 SubmittersRCV001780943 RCV002034586 RCV002503270 RCV006638952

NM_004006.3(DMD):c.6828C>T (p.Pro2276=)

SNV
Germline

ChrX:31929680

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285595

rs_72466595

14 SubmittersRCV000080740 RCV000466055 RCV001167299 RCV001528581 RCV001831867 RCV002362727 RCV004542779

NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)

SNV
Germline

ChrX:31836735

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Hereditary skeletal muscle disorder

Criteria Provided
Conflicting Classifications

CA147852

rs_72466590

18 SubmittersRCV000080750 RCV000246044 RCV000509543 RCV001093402 RCV000990621 RCV001167295 RCV004776429

NM_004006.3(DMD):c.7323T>C (p.Thr2441=)

SNV
Germline

ChrX:31774179

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222490

rs_201919981

6 SubmittersRCV000080757 RCV000723546 RCV001088599 RCV001826759 RCV002381400

NM_004006.3(DMD):c.7653G>A (p.Thr2551=)

SNV
Germline

ChrX:31729638

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype
DMD-related disorder
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA147856

rs_368803197

9 SubmittersRCV000080764 RCV001080502 RCV001169691 RCV002274910 RCV002390235 RCV004542780 RCV001826760

NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)

SNV
Germline

ChrX:31729634

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267135

rs_398124050

9 SubmittersRCV000711467 RCV000797219 RCV001835679

NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)

SNV
Germline

ChrX:31496936

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222513

rs_398124071

5 SubmittersRCV000630546 RCV001826763 RCV002504994 RCV003144127 RCV003162512

NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)

SNV
Germline

ChrX:31479043

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
DMD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA267169

rs_398124074

9 SubmittersRCV000080803 RCV000179204 RCV001831875 RCV004528291

NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)

SNV
Germline

ChrX:31478276

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
DMD-related disorder
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
not specified
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA222518

rs_116283249

11 SubmittersRCV000617868 RCV000723438 RCV001087138 RCV001167231 RCV004529846 RCV001826765 RCV005403761 RCV005886455

NM_004006.3(DMD):c.8852G>A (p.Arg2951His)

SNV
Germline

ChrX:31478191

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA222521

rs_72466567

4 SubmittersRCV000080814 RCV001089143 RCV001831877 RCV004019558

NM_004006.3(DMD):c.9164-1G>T

SNV
Unknown

ChrX:31323659

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

rs_398124082

1 SubmittersRCV004575826

NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)

SNV
Germline

ChrX:31223071

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267182

rs_398124092

6 SubmittersRCV000179641 RCV000254753 RCV001826766

NM_004006.3(DMD):c.9361+1G>A

SNV
Germline

ChrX:31223046

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA267188

rs_398124094

7 SubmittersRCV000080839 RCV000797326 RCV006638838 RCV006456687

NM_004006.3(DMD):c.9361+1G>C

SNV
Germline

ChrX:31223046

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA267189

rs_398124094

4 SubmittersRCV000179638 RCV001854426 RCV006638839

NM_004006.3(DMD):c.961-5831C>T

SNV
Germline

ChrX:32650983

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA267191

rs_398124099

4 SubmittersRCV000080848 RCV000531926 RCV002247479

NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)

SNV
Germline

ChrX:32573618

Conflicting classifications of pathogenicity

Exertional myalgia, muscle stiffness and myoglobinuria
not specified
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA211406

rs_370644567

16 SubmittersRCV000148464 RCV000223816 RCV000516302 RCV000630575 RCV000984165 RCV000984164 RCV002408653 RCV003103987 RCV004786398 RCV005867932 RCV006638878

NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)

SNV
Germline

ChrX:32644145

Conflicting classifications of pathogenicity

Becker muscular dystrophy
Condition: not provided
not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA272861

rs_189143447

11 SubmittersRCV000148465 RCV000183380 RCV000254538 RCV000990731 RCV001276610 RCV002381455

NM_004006.3(DMD):c.1812+1G>A

SNV
Germline

ChrX:32573529

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
See cases
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Cardiovascular phenotype
Dilated and arrhythmogenic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273064

rs_373286166

18 SubmittersRCV000149882 RCV000201160 RCV000521440 RCV000984163 RCV002483296 RCV003155089 RCV004797784 RCV006638882 RCV006725754 RCV006649921

NM_001005242.3(PKP2):c.1379-2019C>T

SNV
Germline

Chr12:32843224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 9
Brugada syndrome
Becker muscular dystrophy
Duchenne muscular dystrophy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA010572

rs_149930872

14 SubmittersRCV000155807 RCV000172581 RCV000528781 RCV000578088 RCV000577994 RCV000577936 RCV000577930 RCV000578052 RCV000619186 RCV000771870

NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)

SNV
Germline

ChrX:31820041

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA233490

rs_139395045

5 SubmittersRCV000621856 RCV000723951 RCV001079174 RCV001831946

NM_004006.3(DMD):c.295A>G (p.Ile99Val)

SNV
Germline

ChrX:32823357

Conflicting classifications of pathogenicity

not specified
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA295602

rs_149428656

9 SubmittersRCV000212485 RCV000515266 RCV000630541 RCV000723910 RCV002433667 RCV004551317

NM_004006.3(DMD):c.883C>T (p.Arg295Ter)

SNV
Germline

ChrX:32697947

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
DMD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273321

rs_727503864

7 SubmittersRCV000153012 RCV001041065 RCV002470775 RCV003226216 RCV004724933

NM_004006.3(DMD):c.2199C>T (p.Ser733=)

SNV
Germline

ChrX:32518101

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA233707

rs_149882431

10 SubmittersRCV000250787 RCV000630599 RCV001168816 RCV001719947 RCV001835693 RCV002426728

NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)

SNV
Germline

ChrX:32645020

Pathogenic

Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA274935

rs_794726993

5 SubmittersRCV000173785 RCV000984160 RCV000984161 RCV000984162 RCV001826873

NM_004006.3(DMD):c.1150-4T>A

SNV
Germline

ChrX:32644317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA239556

rs_794727031

6 SubmittersRCV000174091 RCV000724107 RCV001451060 RCV001826874 RCV002453608

NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)

SNV
Germline

ChrX:32545288

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240885

rs_367769606

4 SubmittersRCV000175177 RCV001852142 RCV002485135 RCV006659251

NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)

SNV
Germline

ChrX:32545231

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA201333

rs_202008454

10 SubmittersRCV000175178 RCV000630637 RCV000853043 RCV001168819 RCV001762398 RCV001826882 RCV002415750

NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)

SNV
Germline

ChrX:32464593

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
DMD-related disorder
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242443

rs_747239076

6 SubmittersRCV000176480 RCV001257067 RCV001832009 RCV004537401 RCV005328221 RCV006263718

NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr)

SNV
Germline

ChrX:32463527

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242545

rs_748123444

5 SubmittersRCV000176556 RCV000766088 RCV001315018 RCV001826894 RCV005549919

NM_004006.3(DMD):c.3696A>C (p.Ala1232=)

SNV
Germline

ChrX:32448546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242774

rs_369971712

5 SubmittersRCV000176745 RCV000724117 RCV001416297 RCV001826895 RCV002345604

NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)

SNV
Germline

ChrX:32441285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242962

rs_760733415

10 SubmittersRCV000306607 RCV000724165 RCV001080626 RCV001826896 RCV002362899 RCV004998375

NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)

SNV
Germline

ChrX:32342154

Pathogenic

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346882

rs_794727666

4 SubmittersRCV000178462 RCV002250590 RCV002517735

NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)

SNV
Germline

ChrX:31836739

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245865

rs_202090289

4 SubmittersRCV000178692 RCV001088379 RCV001826909 RCV004020130

NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)

SNV
Germline

ChrX:31679500

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246359

rs_773656507

3 SubmittersRCV000179127 RCV000630500 RCV001826914

NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)

SNV
Germline

ChrX:31658029

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246388

rs_144103124

6 SubmittersRCV000724591 RCV001086337 RCV001833086 RCV002408775

NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)

SNV
Germline

ChrX:31627743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA246410

rs_750640802

5 SubmittersRCV000179162 RCV000723963 RCV001079559 RCV001833087

NM_004006.3(DMD):c.8076A>G (p.Gln2692=)

SNV
Germline

ChrX:31627814

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
not specified
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA246413

rs_144518527

7 SubmittersRCV000619660 RCV000724640 RCV001085311 RCV001833088 RCV003330538 RCV004537481

NM_004006.3(DMD):c.8226A>G (p.Gln2742=)

SNV
Germline

ChrX:31507445

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA246434

rs_746514008

7 SubmittersRCV000245458 RCV000247407 RCV000487873 RCV001085409 RCV001826915

NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu)

SNV
Germline

ChrX:31444533

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246864

rs_143925896

4 SubmittersRCV000179580 RCV000630569 RCV001833090 RCV005809228

NM_004006.3(DMD):c.9198G>A (p.Ser3066=)

SNV
Germline

ChrX:31323624

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246901

rs_753594128

5 SubmittersRCV000179601 RCV001078477 RCV001826919 RCV003165375

NM_004006.3(DMD):c.9564-5A>G

SNV
Germline

ChrX:31206672

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA246969

rs_201390145

6 SubmittersRCV000313672 RCV000723885 RCV001082624 RCV001833091 RCV002372102

NM_004006.3(DMD):c.10128A>G (p.Leu3376=)

SNV
Germline

ChrX:31178764

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA247408

rs_755438733

5 SubmittersRCV000180034 RCV001078707 RCV001826920 RCV002453640

NM_004006.3(DMD):c.733A>G (p.Ile245Val)

SNV
Germline

ChrX:32699210

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA247616

rs_140510985

8 SubmittersRCV000630494 RCV000659150 RCV001833095 RCV002381581 RCV006263720

NM_004006.3(DMD):c.8974G>A (p.Val2992Met)

SNV
Germline

ChrX:31444591

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308370

rs_201691420

7 SubmittersRCV000183401 RCV000620404 RCV000630589 RCV001165645 RCV001827984 RCV006263724

NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)

SNV
Germline

ChrX:32310266

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308358

rs_148135406

6 SubmittersRCV000405759 RCV001078708 RCV000726721 RCV001826926 RCV002354487

NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)

SNV
Germline

ChrX:32342153

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308406

rs_755477994

5 SubmittersRCV000183418 RCV000766087 RCV001057446 RCV004537536

NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)

SNV
Germline

ChrX:32362910

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308394

rs_147904018

9 SubmittersRCV000396354 RCV000469017 RCV000617311 RCV001835711 RCV002492828 RCV003436975 RCV004539710

NM_004006.3(DMD):c.3937A>G (p.Met1313Val)

SNV
Germline

ChrX:32438375

Conflicting classifications of pathogenicity

Condition: not provided
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA308391

rs_794729003

5 SubmittersRCV000183411 RCV001827986 RCV001852354

NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)

SNV
Germline

ChrX:32464671

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308388

rs_140106769

4 SubmittersRCV000731035 RCV001241260 RCV001827985 RCV002321730

NM_004006.3(DMD):c.2824A>G (p.Met942Val)

SNV
Germline

ChrX:32472289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308343

rs_371648742

6 SubmittersRCV000183385 RCV000726566 RCV001084984 RCV001826925 RCV002433814

NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)

SNV
Germline

ChrX:32518027

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Familial restrictive cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype
Condition: not provided
not specified
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA308419

rs_750526692

9 SubmittersRCV000555681 RCV000853164 RCV001168047 RCV001833105 RCV001852355 RCV002444741 RCV005230047 RCV005237669 RCV004539712

NM_004006.3(DMD):c.6614+3310G>T

SNV
Germline

ChrX:31965029

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347360

rs_797045526

5 SubmittersRCV000192688 RCV000727646 RCV004700578 RCV005042411

NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)

SNV
Germline

ChrX:31507314

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347478

rs_863225012

4 SubmittersRCV000201027 RCV001781603 RCV001828037

NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)

SNV
Germline

ChrX:31627852

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347572

rs_863225011

7 SubmittersRCV000201174 RCV000348940 RCV001192549 RCV006640454

NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)

SNV
Germline

ChrX:32346068

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347548

rs_863225002

2 SubmittersRCV000201122 RCV006640453

NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)

SNV
Germline

ChrX:32364605

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA347522

rs_863225001

5 SubmittersRCV000201095 RCV000760389 RCV003468913 RCV005237711

NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)

SNV
Germline

ChrX:32380626

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347565

rs_863224999

10 SubmittersRCV000201158 RCV000255348 RCV001193218 RCV002336547 RCV003997034 RCV006640452

NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)

SNV
Germline

ChrX:32484925

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347495

rs_756949497

6 SubmittersRCV000201047 RCV000726064 RCV006640451

NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)

SNV
Germline

ChrX:32573766

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347533

rs_863224984

4 SubmittersRCV000201104 RCV001589082 RCV006640450

NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)

SNV
Germline

ChrX:31968451

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

No Assertion Criteria Provided

CA358809

rs_779739455

2 SubmittersRCV000210931 RCV000582216

NM_004006.3(DMD):c.2245A>G (p.Ile749Val)

SNV
Germline

ChrX:32518055

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379595

rs_771803281

7 SubmittersRCV000211455 RCV000374144 RCV000725716 RCV001397433 RCV001828052 RCV004992086

NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)

SNV
Germline

ChrX:31178669

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377674

rs_777510517

8 SubmittersRCV000213994 RCV000470937 RCV001528853 RCV001828075 RCV004992094

NM_004006.3(DMD):c.298G>A (p.Val100Ile)

SNV
Germline

ChrX:32823354

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380189

rs_779099343

5 SubmittersRCV000219870 RCV001828073 RCV002433934 RCV002478767 RCV002517540

NM_004006.3(DMD):c.145C>T (p.Arg49Cys)

SNV
Germline

ChrX:32849769

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA10380250

rs_147548697

8 SubmittersRCV000214960 RCV000732782 RCV001085127 RCV001833181 RCV002390569 RCV005895010

NM_004006.3(DMD):c.43G>C (p.Asp15His)

SNV
Germline

ChrX:33020189

Conflicting classifications of pathogenicity

not specified
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577170

rs_876657780

5 SubmittersRCV000215055 RCV001833199 RCV002327086 RCV001853444 RCV005632324

NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)

SNV
Germline

ChrX:31206651

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377775

rs_181517869

6 SubmittersRCV000229457 RCV000764875 RCV001828115 RCV001854834 RCV002472977 RCV005549929

NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)

SNV
Germline

ChrX:31223083

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377830

rs_201718067

5 SubmittersRCV000382296 RCV001086428 RCV001828114 RCV002372274

NM_004006.3(DMD):c.7200+9G>A

SNV
Germline

ChrX:31836709

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378325

rs_748786108

3 SubmittersRCV000290546 RCV001412524 RCV001833245

NM_004006.3(DMD):c.3951G>A (p.Glu1317=)

SNV
Germline

ChrX:32438361

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10379147

rs_199643655

10 SubmittersRCV000339725 RCV000284261 RCV000621050 RCV000725448 RCV001084784 RCV001828111

NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)

SNV
Germline

ChrX:32491426

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10379513

rs_769988372

6 SubmittersRCV000228776 RCV001828110 RCV002444899 RCV003488488 RCV005238762

NM_004006.3(DMD):c.1603-4C>A

SNV
Germline

ChrX:32573850

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10379780

rs_377223643

5 SubmittersRCV000731252 RCV001080237 RCV001828108 RCV002399824 RCV005406977

NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)

SNV
Germline

ChrX:31478117

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377964

rs_142128738

5 SubmittersRCV000247702 RCV000792624 RCV001165646 RCV001828141 RCV003343731

NM_004006.3(DMD):c.8847G>A (p.Lys2949=)

SNV
Germline

ChrX:31478196

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377978

rs_185664502

7 SubmittersRCV000525821 RCV000242908 RCV000727340 RCV001828140 RCV004992135

NM_004006.3(DMD):c.960+9A>G

SNV
Germline

ChrX:32697861

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10587388

rs_886038537

4 SubmittersRCV000725026 RCV000244751 RCV001088339 RCV001828142

NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr20:33417800

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Long QT syndrome 12
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817183

rs_771180054

5 SubmittersRCV000245286 RCV000577950 RCV000578061 RCV000578008 RCV000578006 RCV001270098 RCV001859463

NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)

SNV
Germline

ChrX:31134176

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10377501

rs_759642119

5 SubmittersRCV000242239 RCV001835745 RCV002518681 RCV005256511

NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)

SNV
Germline

ChrX:31679535

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378222

rs_371588290

4 SubmittersRCV000253476 RCV001246274 RCV001828165 RCV002494792

NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)

SNV
Germline

ChrX:31774073

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378279

rs_759274835

4 SubmittersRCV000248044 RCV001067594 RCV001828166 RCV002479986

NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)

SNV
Germline

ChrX:32346044

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Long QT syndrome
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10378672

rs_754765424

13 SubmittersRCV000247130 RCV000369939 RCV000468573 RCV000853039 RCV001085412 RCV001165782 RCV001835746

NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)

SNV
Germline

ChrX:32362897

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Dystonia, early-onset, and/or spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10378740

rs_200740165

5 SubmittersRCV000244774 RCV000731031 RCV001244498 RCV001828163 RCV005621928

NM_004006.3(DMD):c.2323A>G (p.Arg775Gly)

SNV
Germline

ChrX:32501812

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10587978

rs_886038905

6 SubmittersRCV000250208 RCV000365041 RCV001833288 RCV002500944 RCV002518692

NM_004006.3(DMD):c.694A>C (p.Ile232Leu)

SNV
Germline

ChrX:32699249

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380085

rs_758447768

3 SubmittersRCV000245144 RCV001833291 RCV003765561

NM_004006.3(DMD):c.8218-2A>G

SNV
Germline

ChrX:31507455

Pathogenic

Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588768

rs_886039478

4 SubmittersRCV000256145 RCV001828170 RCV002470829

NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)

SNV
Germline

ChrX:32464603

Pathogenic

Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588771

rs_886039536

4 SubmittersRCV000255926 RCV001833300 RCV001859480

NM_004006.3(DMD):c.31+36947G>A

SNV
Germline

ChrX:33174335

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10603815

rs_886042106

9 SubmittersRCV000341131 RCV001377027 RCV002321946 RCV003469218 RCV006640533

NM_004006.3(DMD):c.8520A>G (p.Ala2840=)

SNV
Germline

ChrX:31496815

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378057

rs_767304792

4 SubmittersRCV000304920 RCV001521958 RCV001828177 RCV002411143

NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)

SNV
Germline

ChrX:32565760

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA10379682

rs_147822019

15 SubmittersRCV000305211 RCV000514379 RCV001082933 RCV001833309 RCV002411145 RCV004542986 RCV005895533

NM_004006.3(DMD):c.7578G>A (p.Gln2526=)

SNV
Germline

ChrX:31729713

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378249

rs_142236825

5 SubmittersRCV000724972 RCV001088245 RCV001833314 RCV002392795

NM_004006.3(DMD):c.8829G>A (p.Thr2943=)

SNV
Germline

ChrX:31478214

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377981

rs_150766816

6 SubmittersRCV000724978 RCV001468477 RCV001828183 RCV002374454

NM_004006.3(DMD):c.7310-7A>G

SNV
Germline

ChrX:31774199

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378290

rs_373230021

9 SubmittersRCV000309756 RCV000862414 RCV001165708 RCV001529411 RCV001833315

NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)

SNV
Germline

ChrX:32468613

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379367

rs_139772014

4 SubmittersRCV000289657 RCV001083952 RCV001833318 RCV002446517

NM_004006.3(DMD):c.5076A>G (p.Thr1692=)

SNV
Germline

ChrX:32364660

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378777

rs_145181319

6 SubmittersRCV000725098 RCV001027925 RCV001080037 RCV002338825 RCV006452556

NM_004006.3(DMD):c.7722G>C (p.Gln2574His)

SNV
Germline

ChrX:31679525

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378219

rs_368164231

5 SubmittersRCV000355167 RCV000803400 RCV001833322 RCV002401978

NM_004006.3(DMD):c.146G>A (p.Arg49His)

SNV
Germline

ChrX:32849768

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10380249

rs_765584669

6 SubmittersRCV000273629 RCV000695408 RCV001828187 RCV002392799 RCV002494825

NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)

SNV
Germline

ChrX:31147478

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10377564

rs_766716563

6 SubmittersRCV000391421 RCV001243918 RCV001828190 RCV002401980 RCV006701279

NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)

SNV
Germline

ChrX:31173588

Pathogenic

Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10604571

rs_886042691

3 SubmittersRCV000346429 RCV006640539

NM_004006.3(DMD):c.3375G>A (p.Ser1125=)

SNV
Germline

ChrX:32463496

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604858

rs_191164314

4 SubmittersRCV000329676 RCV001088683 RCV001828204 RCV003165736

NM_004006.3(DMD):c.8322G>T (p.Leu2774=)

SNV
Germline

ChrX:31507349

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378094

rs_72466575

5 SubmittersRCV000364124 RCV001452835 RCV001828205 RCV005328234

NM_004006.3(DMD):c.9479G>A (p.Arg3160His)

SNV
Germline

ChrX:31209582

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377802

rs_771392678

12 SubmittersRCV000263365 RCV000463720 RCV000725517 RCV001165643 RCV001833336 RCV002374462 RCV004535328

NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)

SNV
Germline

ChrX:31875201

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378350

rs_141151675

7 SubmittersRCV000725518 RCV001089128 RCV001167296 RCV001828207 RCV002365315

NM_004006.3(DMD):c.457C>T (p.Gln153Ter)

SNV
Germline

ChrX:32816541

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA10604955

rs_886042983

5 SubmittersRCV000322545 RCV001389979 RCV004796150

NM_004006.3(DMD):c.7521C>T (p.Asn2507=)

SNV
Germline

ChrX:31773981

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378266

rs_112516305

9 SubmittersRCV000304326 RCV000619872 RCV000725558 RCV001083787 RCV001165704 RCV001833338 RCV004543055

NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)

SNV
Germline

ChrX:32441307

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379186

rs_200213555

8 SubmittersRCV000394586 RCV000547718 RCV001169829 RCV001795483 RCV001835753

NM_004006.3(DMD):c.2988A>G (p.Leu996=)

SNV
Germline

ChrX:32468672

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379378

rs_148835707

7 SubmittersRCV000318425 RCV001081510 RCV001828210 RCV002436107 RCV004535344

NM_004006.3(DMD):c.5739+1G>T

SNV
Germline

ChrX:32343133

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10605032

rs_886043041

4 SubmittersRCV000334459 RCV001004419 RCV001833346

NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)

SNV
Germline

ChrX:32454820

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379265

rs_144667422

4 SubmittersRCV000400926 RCV001088792 RCV001835755 RCV003298339

NM_004006.3(DMD):c.3814T>C (p.Leu1272=)

SNV
Germline

ChrX:32441287

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379181

rs_746405191

5 SubmittersRCV000303979 RCV001519060 RCV001833350 RCV002356382 RCV004535347

NM_004006.3(DMD):c.8999G>A (p.Arg3000His)

SNV
Germline

ChrX:31444566

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377939

rs_772695216

3 SubmittersRCV000323204 RCV001454556 RCV001828218

NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)

SNV
Germline

ChrX:32438376

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379150

rs_377156960

6 SubmittersRCV000290499 RCV000341663 RCV001088143 RCV001833352 RCV002374467

NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)

SNV
Germline

ChrX:32595765

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10605246

rs_763936813

5 SubmittersRCV000351927 RCV001859630 RCV003317180 RCV003469235

NM_004006.3(DMD):c.1150-1G>A

SNV
Germline

ChrX:32644314

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10605293

rs_886043251

4 SubmittersRCV000579074 RCV005090364 RCV006640548

NM_004006.3(DMD):c.9093C>T (p.Val3031=)

SNV
Germline

ChrX:31348626

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377912

rs_72466563

8 SubmittersRCV000725803 RCV001081154 RCV001833358 RCV002374469 RCV004535362

NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)

SNV
Germline

ChrX:32468580

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379364

rs_370171367

5 SubmittersRCV000725809 RCV001833359 RCV001859643 RCV006659384

NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)

SNV
Germline

ChrX:32464623

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10605583

rs_886043493

6 SubmittersRCV000711453 RCV001070295 RCV001833366 RCV002446523

NM_004006.3(DMD):c.9165G>A (p.Thr3055=)

SNV
Germline

ChrX:31323657

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377895

rs_137905486

9 SubmittersRCV000329066 RCV000622128 RCV000725916 RCV001080762 RCV001835758 RCV004543092

NM_004006.3(DMD):c.8436T>C (p.Leu2812=)

SNV
Germline

ChrX:31496899

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378066

rs_139365076

5 SubmittersRCV000725939 RCV001085883 RCV001828240 RCV002446524

NM_004006.3(DMD):c.7914T>C (p.Asp2638=)

SNV
Germline

ChrX:31658103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378184

rs_754997935

5 SubmittersRCV000300354 RCV000726070 RCV001078475 RCV001828245 RCV003165756

NM_004006.3(DMD):c.4851T>G (p.Thr1617=)

SNV
Germline

ChrX:32365194

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378835

rs_143719666

5 SubmittersRCV000338640 RCV001479908 RCV001833381 RCV002338852 RCV006688747

NM_004006.3(DMD):c.1014A>G (p.Glu338=)

SNV
Germline

ChrX:32645099

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379984

rs_758035070

4 SubmittersRCV000275363 RCV001484138 RCV001828250 RCV004021251

NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)

SNV
Germline

ChrX:32518009

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA10379588

rs_199588981

8 SubmittersRCV000397777 RCV000726166 RCV001081740 RCV001833382 RCV002450828 RCV005895839 RCV005895840

NM_004006.3(DMD):c.9987A>G (p.Leu3329=)

SNV
Germline

ChrX:31180469

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377708

rs_145595228

4 SubmittersRCV000377578 RCV001469451 RCV001828253 RCV004992162

NM_004006.3(DMD):c.7449C>T (p.Thr2483=)

SNV
Germline

ChrX:31774053

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378275

rs_766075840

5 SubmittersRCV000373348 RCV001082035 RCV001828258 RCV002379148

NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)

SNV
Germline

ChrX:32389536

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606266

rs_748769566

4 SubmittersRCV000387009 RCV000726249 RCV004796155

NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)

SNV
Germline

ChrX:31658098

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Condition: not provided
Primary dilated cardiomyopathy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378183

rs_146020545

6 SubmittersRCV000341637 RCV000527970 RCV000726250 RCV001270144 RCV001833386 RCV003343745

NM_004006.3(DMD):c.1482+7G>T

SNV
Germline

ChrX:32614296

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379847

rs_766338928

4 SubmittersRCV000401219 RCV001411296 RCV001828259

NM_004006.3(DMD):c.10911G>A (p.Ser3637=)

SNV
Germline

ChrX:31146301

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377517

rs_747939733

4 SubmittersRCV000305361 RCV001082046 RCV001828265 RCV004021273

NM_004006.3(DMD):c.626T>C (p.Ile209Thr)

SNV
Germline

ChrX:32809516

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380113

rs_372832497

8 SubmittersRCV000391044 RCV000696155 RCV001168874 RCV001835765 RCV002480044

NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)

SNV
Germline

ChrX:32573762

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379768

rs_145739725

8 SubmittersRCV000362270 RCV000766091 RCV001086639 RCV002402004

NM_004006.3(DMD):c.501G>T (p.Leu167=)

SNV
Germline

ChrX:32816497

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10380149

rs_150239235

4 SubmittersRCV000272433 RCV001088013 RCV002338857 RCV001835766

NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)

SNV
Germline

ChrX:31658017

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378173

rs_371437381

4 SubmittersRCV000274831 RCV001828267 RCV001245262 RCV003165772

NM_004006.3(DMD):c.4072-3T>C

SNV
Germline

ChrX:32411916

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379044

rs_751657094

6 SubmittersRCV000329931 RCV000726439 RCV001078710 RCV001833401 RCV002321964

NM_004006.3(DMD):c.5933G>A (p.Arg1978His)

SNV
Germline

ChrX:32310266

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378563

rs_148135406

5 SubmittersRCV000274771 RCV001082959 RCV001835768 RCV002356394

NM_004006.3(DMD):c.1183C>T (p.Arg395Trp)

SNV
Germline

ChrX:32644280

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379947

rs_780356433

5 SubmittersRCV000259220 RCV001213160 RCV001828274 RCV002487281

NM_004006.3(DMD):c.4049G>A (p.Arg1350His)

SNV
Germline

ChrX:32438263

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379126

rs_750981128

6 SubmittersRCV000316844 RCV001833402 RCV002321965 RCV001339956

NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)

SNV
Germline

ChrX:31836788

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378333

rs_201262489

4 SubmittersRCV000261998 RCV001078740 RCV001828275 RCV003165774

NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)

SNV
Germline

ChrX:32463458

Pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10606715

rs_886044406

2 SubmittersRCV000328723 RCV004796156

NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)

SNV
Germline

ChrX:32365146

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606716

rs_886044407

5 SubmittersRCV000265575 RCV001373716 RCV001835770 RCV002480052 RCV003165775

NM_004006.3(DMD):c.9033G>A (p.Pro3011=)

SNV
Germline

ChrX:31444532

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377935

rs_774722438

7 SubmittersRCV000307995 RCV001084949 RCV001165644 RCV001828276 RCV002374486

NM_004006.3(DMD):c.5706C>A (p.Ser1902Arg)

SNV
Germline

ChrX:32343167

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10378618

rs_752774864

4 SubmittersRCV000329015 RCV001231485 RCV001833409

NM_004006.3(DMD):c.9888C>T (p.Pro3296=)

SNV
Germline

ChrX:31182824

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377728

rs_146543659

5 SubmittersRCV000270713 RCV001079512 RCV001833410 RCV002379152

NM_004006.3(DMD):c.9649+8G>A

SNV
Germline

ChrX:31206574

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377768

rs_373703618

3 SubmittersRCV000307296 RCV001083126 RCV001833412

NM_004006.3(DMD):c.6614+7C>T

SNV
Germline

ChrX:31968332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378436

rs_180719577

9 SubmittersRCV000305282 RCV000726571 RCV001088071 RCV001833414 RCV004537617

NM_004006.3(DMD):c.8322G>A (p.Leu2774=)

SNV
Germline

ChrX:31507349

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378093

rs_72466575

7 SubmittersRCV000726635 RCV001080858 RCV001828283 RCV002411177

NM_004006.3(DMD):c.2508T>C (p.Tyr836=)

SNV
Germline

ChrX:32491391

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10607045

rs_886044674

3 SubmittersRCV000381239 RCV000536795 RCV001833417

NM_004006.3(DMD):c.530+7A>T

SNV
Germline

ChrX:32816461

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA10380144

rs_72470523

7 SubmittersRCV000402577 RCV000487649 RCV001080887 RCV001833485 RCV006690398

NM_004006.3(DMD):c.10146C>G (p.Thr3382=)

SNV
Germline

ChrX:31178746

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10377685

rs_766427132

4 SubmittersRCV000348269 RCV001496124 RCV002328896 RCV001835786

NM_004006.3(DMD):c.3666T>C (p.Asn1222=)

SNV
Germline

ChrX:32448576

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
not specified
Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379210

rs_373281760

9 SubmittersRCV000310255 RCV000733599 RCV000828194 RCV001086115 RCV001833484 RCV002450944

NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)

SNV
Germline

ChrX:31968498

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378454

rs_767681834

4 SubmittersRCV000389716 RCV002502413 RCV002523832 RCV005632388

NM_004006.3(DMD):c.5964C>T (p.Asp1988=)

SNV
Germline

ChrX:32310235

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10654306

rs_1057515869

3 SubmittersRCV000336456 RCV001444991 RCV001828367

NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)

SNV
Germline

ChrX:31177947

Conflicting classifications of pathogenicity

Pectus excavatum
Ptosis
Clinodactyly of the 5th finger
Proptosis
Cardiomyopathy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
not specified
Cardiovascular phenotype
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10377653

rs_201217593

13 SubmittersRCV000415019 RCV000763208 RCV001035227 RCV002248648 RCV002379278 RCV001420737 RCV003470367 RCV001764346 RCV006640623

NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)

SNV
Germline

ChrX:32573812

Pathogenic

6 conditions
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA16043590

rs_1057518962

3 SubmittersRCV000415104 RCV001198405 RCV002521460 RCV004796172

NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)

SNV
Germline

ChrX:31836731

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16043742

rs_1057519106

5 SubmittersRCV000415746 RCV000457466 RCV001833507 RCV003298426

NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)

SNV
Germline

ChrX:32346040

Conflicting classifications of pathogenicity

Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378670

rs_369055628

8 SubmittersRCV000415685 RCV000415628 RCV000415647 RCV000513342 RCV001833509 RCV004992198 RCV006452626

NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)

SNV
Germline

ChrX:32389570

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378953

rs_765355046

6 SubmittersRCV000417293 RCV001369813 RCV001833510 RCV002328906 RCV005632392

NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)

SNV
Germline

ChrX:32472255

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379419

rs_142133195

7 SubmittersRCV000436857 RCV000530235 RCV001828430 RCV003144261 RCV004539870

NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)

SNV
Germline

ChrX:32595841

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379829

rs_755456119

8 SubmittersRCV000428491 RCV000727262 RCV001167508 RCV001497899 RCV001828413 RCV002392980

NM_004006.3(DMD):c.8886C>T (p.Pro2962=)

SNV
Germline

ChrX:31478157

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377972

rs_371648038

6 SubmittersRCV000443270 RCV000726697 RCV001509680 RCV001835800 RCV002374699 RCV004539891

NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)

SNV
Germline

ChrX:32287607

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378513

rs_774825173

5 SubmittersRCV000424766 RCV001460941 RCV001828420 RCV003144260 RCV003380559

NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)

SNV
Germline

ChrX:32287668

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378521

rs_140791274

6 SubmittersRCV000439362 RCV000459246 RCV001833527 RCV005404555

NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)

SNV
Germline

ChrX:32468614

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379368

rs_199808421

5 SubmittersRCV000429074 RCV001861563 RCV001833544 RCV003437189 RCV005540076

NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)

SNV
Germline

ChrX:32645004

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379972

rs_773299186

4 SubmittersRCV000432889 RCV001833571 RCV002526364 RCV002488986

NM_004006.3(DMD):c.3096C>G (p.Leu1032=)

SNV
Germline

ChrX:32468564

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379359

rs_770148717

6 SubmittersRCV000734228 RCV001085168 RCV001833560 RCV004992212

NM_004006.3(DMD):c.2166A>G (p.Lys722=)

SNV
Germline

ChrX:32545161

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379626

rs_147580966

5 SubmittersRCV000727475 RCV001081043 RCV001828443 RCV002429442

NM_004006.3(DMD):c.884G>A (p.Arg295Gln)

SNV
Germline

ChrX:32697946

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380038

rs_377587957

7 SubmittersRCV000437740 RCV000732712 RCV001086130 RCV001828407 RCV002374644

NM_004006.3(DMD):c.10975G>A (p.Val3659Met)

SNV
Germline

ChrX:31134141

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377496

rs_768532317

5 SubmittersRCV000460936 RCV000999364 RCV001828471 RCV004022741

NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)

SNV
Germline

ChrX:31507432

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378103

rs_772732788

5 SubmittersRCV000472076 RCV000592149 RCV002481442

NM_004006.3(DMD):c.7892G>A (p.Arg2631His)

SNV
Germline

ChrX:31658125

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378186

rs_748007790

4 SubmittersRCV000459837 RCV001828472 RCV003237871 RCV004022742

NM_004006.3(DMD):c.4721G>A (p.Arg1574His)

SNV
Germline

ChrX:32380634

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10378879

rs_755206033

8 SubmittersRCV000593867 RCV001167968 RCV001087423 RCV001833588 RCV002339170 RCV004737533

NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)

SNV
Germline

ChrX:32441285

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616498

rs_760733415

4 SubmittersRCV000458499 RCV001833587 RCV002356685 RCV004722788

NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)

SNV
Germline

ChrX:32485057

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16616505

rs_1060502639

8 SubmittersRCV000474172 RCV000757161 RCV001193188 RCV001833585 RCV004568048 RCV005044685

NM_004006.3(DMD):c.2551A>C (p.Asn851His)

SNV
Germline

ChrX:32491348

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379496

rs_753665097

3 SubmittersRCV000464830 RCV001833584 RCV002489061

NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)

SNV
Germline

ChrX:32573796

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16616525

rs_1060502629

5 SubmittersRCV000469346 RCV000517238 RCV006640646

NM_004006.3(DMD):c.10797+1G>A

SNV
Germline

ChrX:31147274

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16616650

rs_1060502626

2 SubmittersRCV000464915 RCV006640645

NM_004006.3(DMD):c.5040C>T (p.His1680=)

SNV
Germline

ChrX:32364696

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA16616680

rs_72468632

3 SubmittersRCV000729142 RCV001084460 RCV001828492

NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)

SNV
Germline

ChrX:32484997

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16616685

rs_1060502616

5 SubmittersRCV000468817 RCV001828470 RCV005239035 RCV005004174 RCV004992237

NM_004006.3(DMD):c.5448+1G>A

SNV
Germline

ChrX:32348405

Likely pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621361

rs_1064796764

2 SubmittersRCV000487293 RCV003464037

NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)

SNV
Germline

ChrX:31932210

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328487806

rs_900089672

4 SubmittersRCV000489867 RCV001203049 RCV001834589 RCV002376894

NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)

SNV
Germline

ChrX:32438359

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379146

rs_759820971

5 SubmittersRCV000490004 RCV001242084 RCV001273878 RCV002475963 RCV005540091

NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)

SNV
Germline

ChrX:32491414

Pathogenic/Likely pathogenic

not specified
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412672508

rs_753662330

4 SubmittersRCV000507981 RCV001240972 RCV001783008 RCV003470640

NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)

SNV
Germline

ChrX:31209501

Pathogenic/Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412649724

rs_1556280638

3 SubmittersRCV000506633 RCV005900940 RCV006640715

NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)

SNV
Germline

ChrX:31627752

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
DMD-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378137

rs_758633794

10 SubmittersRCV000518551 RCV000733400 RCV000990609 RCV001834662 RCV004535677 RCV002420297

NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)

SNV
Germline

ChrX:32216931

Pathogenic

Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412660498

rs_1425702864

3 SubmittersRCV000516178 RCV001834661

NM_004006.3(DMD):c.5586+1G>A

SNV
Germline

ChrX:32345942

Likely pathogenic

Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412667208

rs_1557292599

4 SubmittersRCV000517883 RCV001829465 RCV006463210

NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)

SNV
Germline

ChrX:31177945

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10377651

rs_373898385

9 SubmittersRCV000522126 RCV000547278 RCV001829520 RCV005328292 RCV005407680

NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)

SNV
Germline

ChrX:31929709

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378400

rs_758654750

5 SubmittersRCV000520793 RCV000552438 RCV001835837 RCV002367742 RCV004800443

NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)

SNV
Germline

ChrX:31968381

Conflicting classifications of pathogenicity

Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378442

rs_756238158

6 SubmittersRCV001829481 RCV002506267 RCV002527563 RCV006725852 RCV000523655

NM_004006.3(DMD):c.2362G>T (p.Val788Leu)

SNV
Germline

ChrX:32501773

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379548

rs_756267575

4 SubmittersRCV000520240 RCV000799719 RCV001829499 RCV002456009

NM_004006.3(DMD):c.1739A>G (p.Asp580Gly)

SNV
Germline

ChrX:32573603

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412673225

rs_1246969208

4 SubmittersRCV000518916 RCV001342906 RCV001834708 RCV004023615

NM_004006.3(DMD):c.940C>T (p.Arg314Trp)

SNV
Germline

ChrX:32697890

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380024

rs_764526102

4 SubmittersRCV000727306 RCV001834684 RCV003512052

NM_004006.3(DMD):c.7051T>C (p.Leu2351=)

SNV
Germline

ChrX:31875235

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378353

rs_367747168

5 SubmittersRCV000560738 RCV000597909 RCV001834735 RCV003302776

NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)

SNV
Germline

ChrX:32216945

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328519363

rs_1023328955

4 SubmittersRCV000557446 RCV000766086 RCV001834733 RCV002367771

NM_004006.3(DMD):c.2804-1G>T

SNV
Germline

ChrX:32472310

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412668289

rs_398123909

4 SubmittersRCV000538642 RCV000595227 RCV000984158 RCV000984159 RCV006640737

NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)

SNV
Germline

ChrX:31444582

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377941

rs_148643665

5 SubmittersRCV000541472 RCV000786300 RCV001835844 RCV002376999

NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)

SNV
Germline

ChrX:31478148

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10377970

rs_781748062

4 SubmittersRCV000526573 RCV001834739 RCV002376998 RCV003144316

NM_004006.3(DMD):c.8643A>G (p.Leu2881=)

SNV
Germline

ChrX:31479008

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10378025

rs_747605156

5 SubmittersRCV000593600 RCV001087437 RCV001834737 RCV002376996 RCV005407687

NM_004006.3(DMD):c.3432+2036A>G

SNV
Germline

ChrX:32461403

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype
DMD-related disorder
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA658658948

rs_182575709

7 SubmittersRCV000012039 RCV000537797 RCV001539084 RCV002341259 RCV004537895 RCV006264017

NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)

SNV
Germline

ChrX:32501838

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412673722

rs_1443021146

3 SubmittersRCV000529606 RCV001834724 RCV002448611

NM_004006.3(DMD):c.1309G>C (p.Ala437Pro)

SNV
Germline

ChrX:32644154

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379930

rs_748964279

3 SubmittersRCV000540670 RCV000619591 RCV001834721

NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)

SNV
Germline

ChrX:31223070

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412650856

rs_1556320083

7 SubmittersRCV000554971 RCV000788497 RCV001834740 RCV002377000 RCV002470903 RCV003470720

NM_004006.3(DMD):c.6614+7C>A

SNV
Germline

ChrX:31968332

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10378437

rs_180719577

3 SubmittersRCV000592818 RCV001080691 RCV001829555

NM_004006.3(DMD):c.5946G>A (p.Met1982Ile)

SNV
Germline

ChrX:32310253

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412670157

rs_1241760732

3 SubmittersRCV000531367 RCV001829552 RCV004992313

NM_004006.3(DMD):c.4561A>G (p.Met1521Val)

SNV
Germline

ChrX:32386423

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378919

rs_757350813

4 SubmittersRCV000533577 RCV000594460 RCV001829547 RCV004609424

NM_004006.3(DMD):c.4467A>C (p.Glu1489Asp)

SNV
Germline

ChrX:32389552

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378948

rs_373162382

3 SubmittersRCV000528126 RCV001835843 RCV002330825

NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)

SNV
Germline

ChrX:32645019

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412661885

rs_1216968523

6 SubmittersRCV000537597 RCV001755793 RCV001829536 RCV002448610 RCV002483345

NM_004006.3(DMD):c.7310-1G>A

SNV
Germline

ChrX:31774193

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412659203

rs_1556880354

4 SubmittersRCV000581374 RCV000583728 RCV006633930

NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)

SNV
Germline

ChrX:32485053

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

No Assertion Criteria Provided

CA412670993

rs_1557380616

1 SubmittersRCV000582450 RCV000584311

NM_004006.3(DMD):c.93+5590T>A

SNV
Germline

ChrX:33014549

Conflicting classifications of pathogenicity

Becker muscular dystrophy, atypical
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA658799705

rs_1557211730

3 SubmittersRCV000012041 RCV000593739 RCV005416376

NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)

SNV
Germline

ChrX:31627807

Conflicting classifications of pathogenicity

Condition: not provided
Heart failure
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378140

rs_755445214

6 SubmittersRCV000597484 RCV000853037 RCV001080147 RCV001829638 RCV002420567

NM_004006.3(DMD):c.923C>A (p.Thr308Asn)

SNV
Germline

ChrX:32697907

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380028

rs_145064612

5 SubmittersRCV000593736 RCV001057556 RCV001835861 RCV003160009

NM_004006.3(DMD):c.8958G>A (p.Ala2986=)

SNV
Germline

ChrX:31444607

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10377945

rs_755815057

5 SubmittersRCV000591694 RCV001084795 RCV001829639 RCV002448829 RCV004543320

NM_004006.3(DMD):c.3450G>A (p.Glu1150=)

SNV
Germline

ChrX:32454815

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10379263

rs_142967431

6 SubmittersRCV000597879 RCV001078543 RCV001834867 RCV002460092 RCV005404708

NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)

SNV
Germline

ChrX:31836748

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412659279

rs_770183212

5 SubmittersRCV000592773 RCV001824837 RCV005091553 RCV006640781

NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)

SNV
Germline

ChrX:31348628

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10377913

rs_143426249

7 SubmittersRCV000595090 RCV001083583 RCV001834873 RCV002377230 RCV005404709

NM_004006.3(DMD):c.7602C>T (p.Ala2534=)

SNV
Germline

ChrX:31729689

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378244

rs_748309027

5 SubmittersRCV000594188 RCV000726825 RCV001083037 RCV001834874 RCV002395523

NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)

SNV
Germline

ChrX:32518051

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379593

rs_377539940

4 SubmittersRCV000591854 RCV000696509 RCV001829644 RCV002431747

NM_004006.3(DMD):c.6033A>G (p.Leu2011=)

SNV
Germline

ChrX:32310166

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378555

rs_772889861

3 SubmittersRCV000592988 RCV001520191 RCV001834875

NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)

SNV
Germline

ChrX:32699122

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380069

rs_745868830

9 SubmittersRCV000596666 RCV000990742 RCV001193796 RCV001834876 RCV002431748

NM_004006.3(DMD):c.10608G>A (p.Leu3536=)

SNV
Germline

ChrX:31147464

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10377562

rs_773786369

3 SubmittersRCV000591316 RCV001414365 RCV001835866

NM_004006.3(DMD):c.8706G>A (p.Arg2902=)

SNV
Germline

ChrX:31478337

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA328434466

rs_899851642

5 SubmittersRCV000591589 RCV001084887 RCV001834887 RCV003343932 RCV004543352

NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)

SNV
Germline

ChrX:32348447

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412667762

rs_1557294228

4 SubmittersRCV000592740 RCV003225949 RCV006640787

NM_004006.3(DMD):c.1603-6C>T

SNV
Germline

ChrX:32573852

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379782

rs_774626474

4 SubmittersRCV000594742 RCV001080417 RCV001829653 RCV004530689

NM_004006.3(DMD):c.863G>C (p.Arg288Thr)

SNV
Germline

ChrX:32697967

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380040

rs_767304770

7 SubmittersRCV000594236 RCV001078515 RCV001829655 RCV002377235

NM_004006.3(DMD):c.8218-5T>C

SNV
Germline

ChrX:31507458

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378108

rs_183643245

4 SubmittersRCV000592253 RCV001085740 RCV001829656 RCV003302914

NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)

SNV
Germline

ChrX:32645016

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379973

rs_763144501

6 SubmittersRCV000593770 RCV000689766 RCV001834893 RCV002483615 RCV006725886

NM_004006.3(DMD):c.1536C>A (p.His512Gln)

SNV
Germline

ChrX:32595823

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379826

rs_776446238

7 SubmittersRCV000596734 RCV001066227 RCV001829661 RCV002483620 RCV004024789

NM_004006.3(DMD):c.7956T>C (p.Ser2652=)

SNV
Germline

ChrX:31658061

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378181

rs_757902182

4 SubmittersRCV000591422 RCV001444349 RCV001834898 RCV002420576

NM_004006.3(DMD):c.8508C>T (p.Gly2836=)

SNV
Germline

ChrX:31496827

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378059

rs_374374549

6 SubmittersRCV000596232 RCV001088390 RCV001834904 RCV004609451

NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)

SNV
Germline

ChrX:32343274

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378631

rs_144718274

5 SubmittersRCV000593288 RCV000706382 RCV001829679 RCV002350429

NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)

SNV
Germline

ChrX:31729706

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10378248

rs_771509836

6 SubmittersRCV000591545 RCV000694041 RCV001834905 RCV002395538 RCV002498865 RCV004782466

NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)

SNV
Germline

ChrX:31836759

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne and Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412659306

rs_1556930579

4 SubmittersRCV000593336 RCV001729648 RCV002368028 RCV003225950

NM_004006.3(DMD):c.4995C>T (p.Ser1665=)

SNV
Germline

ChrX:32365050

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378812

rs_775659020

5 SubmittersRCV000595108 RCV001079451 RCV001829685 RCV002341533

NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)

SNV
Germline

ChrX:32411895

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412666663

rs_1252905257

3 SubmittersRCV000616380 RCV001829724 RCV003117410

NM_004006.3(DMD):c.956C>T (p.Ser319Leu)

SNV
Germline

ChrX:32697874

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380021

rs_765986138

5 SubmittersRCV000602771 RCV001168122 RCV001829718 RCV002529409

NM_004006.3(DMD):c.9287-8C>T

SNV
Germline

ChrX:31223129

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377833

rs_371035624

5 SubmittersRCV000730560 RCV001085435 RCV001834939

NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)

SNV
Germline

ChrX:31679535

Conflicting classifications of pathogenicity

not specified
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378223

rs_371588290

6 SubmittersRCV000606619 RCV001834944 RCV001860317 RCV003144392 RCV005044901 RCV006650290

NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)

SNV
Germline

ChrX:32438326

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379136

rs_770827878

5 SubmittersRCV000606990 RCV000762616 RCV001456759 RCV001834940

NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)

SNV
Germline

ChrX:32463588

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379308

rs_183819382

4 SubmittersRCV001707829 RCV001834945 RCV002528581 RCV003380638

NM_004006.3(DMD):c.3030G>A (p.Ala1010=)

SNV
Germline

ChrX:32468630

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379370

rs_72468666

6 SubmittersRCV000610644 RCV001167430 RCV001515770 RCV001829733 RCV002438610 RCV004533270

NM_004006.3(DMD):c.554G>A (p.Ser185Asn)

SNV
Germline

ChrX:32809588

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412673954

rs_1168876204

4 SubmittersRCV000602873 RCV001834948 RCV002343164 RCV002531670

NM_004006.3(DMD):c.247G>A (p.Val83Ile)

SNV
Germline

ChrX:32844800

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412674667

rs_1358774744

4 SubmittersRCV000605014 RCV001829725 RCV004609456 RCV005091717

NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)

SNV
Germline

ChrX:31627837

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Conduction disorder of the heart
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378144

rs_748937055

8 SubmittersRCV000620588 RCV000701669 RCV001002643 RCV001256881 RCV001356225 RCV001829737 RCV002483706

NM_004006.3(DMD):c.7359A>G (p.Glu2453=)

SNV
Germline

ChrX:31774143

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378284

rs_780283825

5 SubmittersRCV000617621 RCV000990618 RCV001165707 RCV001829742

NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)

SNV
Germline

ChrX:32362843

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378736

rs_201516290

3 SubmittersRCV000620543 RCV001244304 RCV002498994

NM_004006.3(DMD):c.4283A>G (p.Lys1428Arg)

SNV
Germline

ChrX:32390132

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10378996

rs_371585389

5 SubmittersRCV000621783 RCV001246744 RCV001829740 RCV005231186 RCV005438014

NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)

SNV
Germline

ChrX:32438330

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379138

rs_745640786

5 SubmittersRCV000620924 RCV001211852 RCV001375537 RCV001829741 RCV002483710

NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)

SNV
Germline

ChrX:32464630

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
not specified
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379326

rs_375329908

7 SubmittersRCV000618045 RCV000811104 RCV001194450 RCV001834964 RCV002477343 RCV005632525

NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)

SNV
Germline

ChrX:32573593

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379739

rs_775846754

4 SubmittersRCV000618573 RCV001056880 RCV001834969 RCV002483707

NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)

SNV
Germline

ChrX:31223056

Conflicting classifications of pathogenicity

Primary familial dilated cardiomyopathy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377828

rs_200928985

6 SubmittersRCV000624887 RCV000764876 RCV000864788 RCV001086344 RCV002448913

NM_004006.3(DMD):c.7032A>G (p.Leu2344=)

SNV
Germline

ChrX:31875254

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA515859508

rs_1556962392

4 SubmittersRCV001167298 RCV001445702 RCV001829768 RCV003162791

NM_004006.3(DMD):c.3713A>G (p.Lys1238Arg)

SNV
Germline

ChrX:32448529

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379202

rs_150333718

3 SubmittersRCV000630496 RCV001835882 RCV004025382

NM_004006.3(DMD):c.3663A>G (p.Val1221=)

SNV
Germline

ChrX:32448579

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379211

rs_750549006

5 SubmittersRCV000732779 RCV001089181 RCV001829767 RCV004992411

NM_004006.3(DMD):c.7450G>C (p.Asp2484His)

SNV
Germline

ChrX:31774052

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378274

rs_773102625

3 SubmittersRCV000630574 RCV001834995 RCV002385979

NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)

SNV
Germline

ChrX:31507437

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328438215

rs_367735348

3 SubmittersRCV000630571 RCV001829760 RCV002413797

NM_004006.3(DMD):c.2764T>G (p.Phe922Val)

SNV
Germline

ChrX:32484958

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379443

rs_185395584

3 SubmittersRCV000630507 RCV002492943 RCV003302981

NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)

SNV
Germline

ChrX:32644171

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412660927

rs_1556875224

3 SubmittersRCV000630516 RCV001254066

NM_004006.3(DMD):c.1602G>A (p.Lys534=)

SNV
Germline

ChrX:32595757

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA515864146

rs_1556834513

3 SubmittersRCV000658058 RCV001051973 RCV006640818

NM_004006.3(DMD):c.7660+1G>C

SNV
Germline

ChrX:31729630

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412657470

rs_1556852444

3 SubmittersRCV000659149 RCV001861709 RCV002249388

NM_004006.3(DMD):c.7597G>A (p.Ala2533Thr)

SNV
Germline

ChrX:31729694

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378245

rs_369583884

4 SubmittersRCV000689796 RCV001830501 RCV004026338 RCV005231274

NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)

SNV
Germline

ChrX:31820037

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412658594

rs_1569452000

2 SubmittersRCV000689427 RCV006642519

NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)

SNV
Germline

ChrX:31929645

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378392

rs_762708936

4 SubmittersRCV000695263 RCV001825359 RCV002369885 RCV002493199

NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)

SNV
Germline

ChrX:31968489

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA328490657

rs_892121336

4 SubmittersRCV000706797 RCV002261195 RCV001835932

NM_004006.3(DMD):c.4201G>A (p.Val1401Met)

SNV
Germline

ChrX:32411784

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379022

rs_139318945

4 SubmittersRCV000687555 RCV001830488 RCV006278004 RCV006725937

NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)

SNV
Germline

ChrX:32448563

Pathogenic

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412662075

rs_1569562941

2 SubmittersRCV000693959 RCV005629573

NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)

SNV
Germline

ChrX:32472213

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype
Hereditary skeletal muscle disorder
not specified

Criteria Provided
Conflicting Classifications

CA10379415

rs_766400327

5 SubmittersRCV000685403 RCV001829891 RCV002440419 RCV005626152 RCV005405266

NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)

SNV
Germline

ChrX:32595773

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328537368

rs_889238270

5 SubmittersRCV000705601 RCV001192550 RCV001766557 RCV001835931 RCV002397479

NM_004006.3(DMD):c.7783G>T (p.Val2595Phe)

SNV
Germline

ChrX:31679464

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412656742

rs_1254164861

4 SubmittersRCV000687333 RCV001829898 RCV004993944 RCV006732138

NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)

SNV
Germline

ChrX:32448568

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379209

rs_757482211

4 SubmittersRCV000698167 RCV002343498 RCV001825371 RCV006650398

NM_004006.3(DMD):c.2912A>T (p.Asp971Val)

SNV
Germline

ChrX:32472201

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379411

rs_762154042

5 SubmittersRCV000694095 RCV000766089 RCV001825355 RCV003144525 RCV004609491

NM_004006.3(DMD):c.657T>A (p.Asp219Glu)

SNV
Germline

ChrX:32699286

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380091

rs_771312947

3 SubmittersRCV000704007 RCV001825390 RCV002360816

NM_004006.3(DMD):c.7450G>A (p.Asp2484Asn)

SNV
Germline

ChrX:31774052

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378273

rs_773102625

3 SubmittersRCV000686901 RCV001829895 RCV003144488

NM_004006.3(DMD):c.7300A>G (p.Ile2434Val)

SNV
Germline

ChrX:31819984

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328476079

rs_895117941

3 SubmittersRCV000696243 RCV001835921 RCV006725953

NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)

SNV
Germline

ChrX:32389514

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378943

rs_745462674

3 SubmittersRCV000691402 RCV001830505 RCV003886430

NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)

SNV
Germline

ChrX:31169450

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412651672

rs_1569401103

4 SubmittersRCV000711448 RCV001861962 RCV006642537

NM_004006.3(DMD):c.4409G>A (p.Arg1470His)

SNV
Germline

ChrX:32389610

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412663583

rs_752129019

5 SubmittersRCV000711458 RCV000797096 RCV001825418 RCV004026804

NM_004006.3(DMD):c.579A>T (p.Thr193=)

SNV
Germline

ChrX:32809563

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA515865985

rs_766344083

5 SubmittersRCV000727960 RCV001825444 RCV001521665 RCV002352238

NM_004006.3(DMD):c.4605G>A (p.Thr1535=)

SNV
Germline

ChrX:32386379

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378912

rs_374871728

4 SubmittersRCV000728217 RCV001083189 RCV001830597 RCV002334408

NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)

SNV
Germline

ChrX:32348483

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412667964

rs_1569559204

9 SubmittersRCV000728336 RCV000990647 RCV001825446

NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)

SNV
Germline

ChrX:31658007

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412655751

rs_1569186252

4 SubmittersRCV000728338 RCV001192551 RCV002533089 RCV006642543

NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)

SNV
Germline

ChrX:32342155

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412664875

rs_1569558906

3 SubmittersRCV000728846 RCV000824292 RCV005614444

NM_004006.3(DMD):c.3432+10A>G

SNV
Germline

ChrX:32463429

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
not specified
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10379285

rs_746260475

5 SubmittersRCV000730530 RCV001089202 RCV001796199 RCV001825462

NM_004006.3(DMD):c.1919C>T (p.Thr640Met)

SNV
Germline

ChrX:32565775

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379685

rs_183677010

5 SubmittersRCV000731087 RCV000818063 RCV001830611 RCV002406666

NM_004006.3(DMD):c.1603-2A>C

SNV
Germline

ChrX:32573848

Pathogenic/Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10379779

rs_773779441

3 SubmittersRCV000731599 RCV005897247 RCV006642553

NM_004006.3(DMD):c.772C>A (p.Pro258Thr)

SNV
Germline

ChrX:32699171

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10380076

rs_773066825

4 SubmittersRCV000732416 RCV002397510 RCV002485916 RCV003117533

NM_004006.3(DMD):c.2293-8T>C

SNV
Germline

ChrX:32501850

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
not specified

Criteria Provided
Conflicting Classifications

CA10379562

rs_377050013

5 SubmittersRCV000732807 RCV001089054 RCV001825475 RCV004997259

NM_004006.3(DMD):c.531-10T>A

SNV
Germline

ChrX:32809621

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA913190747

rs_747522183

4 SubmittersRCV000733117 RCV000819859 RCV001270446 RCV002249446

NM_004006.3(DMD):c.8426G>A (p.Arg2809His)

SNV
Germline

ChrX:31496909

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378068

rs_778331600

5 SubmittersRCV000733196 RCV001227516 RCV001830633 RCV001592937 RCV003303219

NM_004006.3(DMD):c.8028G>A (p.Arg2676=)

SNV
Germline

ChrX:31627862

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA515858972

rs_1237546420

3 SubmittersRCV000734423 RCV001036336 RCV001830638

NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)

SNV
Germline

ChrX:31774047

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378272

rs_765207227

6 SubmittersRCV000734758 RCV000807737 RCV001825485 RCV005240523 RCV005400742

NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)

SNV
Germline

ChrX:31444569

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10377940

rs_762577093

4 SubmittersRCV000823007 RCV001825669 RCV002372356 RCV000853172

NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)

SNV
Germline

ChrX:31478140

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377969

rs_755061434

3 SubmittersRCV000807137 RCV001830761 RCV004994026

NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)

SNV
Germline

ChrX:31627755

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378139

rs_751599201

3 SubmittersRCV000798429 RCV001825569 RCV002422724

NM_004006.3(DMD):c.6194G>T (p.Ser2065Ile)

SNV
Germline

ChrX:32287625

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378515

rs_767872954

3 SubmittersRCV000820213 RCV001825654 RCV003145205

NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)

SNV
Germline

ChrX:32310150

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378553

rs_201532491

5 SubmittersRCV000805105 RCV001174998 RCV001830745 RCV001169756 RCV002352378

NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)

SNV
Germline

ChrX:32310257

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378562

rs_140575687

4 SubmittersRCV000808527 RCV001835972 RCV003145160 RCV004994029

NM_004006.3(DMD):c.2785G>A (p.Glu929Lys)

SNV
Germline

ChrX:32484937

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379441

rs_772679497

4 SubmittersRCV000809112 RCV001825612 RCV002440738 RCV005231365

NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)

SNV
Germline

ChrX:32485018

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412670844

rs_1603634608

2 SubmittersRCV000819083 RCV005614453

NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)

SNV
Germline

ChrX:32518091

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379601

rs_762960280

3 SubmittersRCV000820788 RCV001825657 RCV002427054

NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)

SNV
Germline

ChrX:32545258

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10379647

rs_762475657

5 SubmittersRCV000798504 RCV001825571 RCV003144608 RCV005436063

NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)

SNV
Germline

ChrX:32614434

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412670439

rs_1602169535

3 SubmittersRCV000795920 RCV002249505

NM_004006.3(DMD):c.807T>A (p.His269Gln)

SNV
Germline

ChrX:32699136

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328553819

rs_1038213947

3 SubmittersRCV000793012 RCV001825545 RCV003307424

NM_004006.3(DMD):c.445C>T (p.Arg149Cys)

SNV
Germline

ChrX:32816553

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380155

rs_774139970

3 SubmittersRCV000797831 RCV001825563 RCV004027935

NM_004006.3(DMD):c.1705-2A>G

SNV
Germline

ChrX:32573639

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412673308

rs_1601809011

4 SubmittersRCV000808723 RCV002290455 RCV006701685 RCV006642644

NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)

SNV
Germline

ChrX:31679394

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328462478

rs_972664841

4 SubmittersRCV000861346 RCV001425094 RCV001825708 RCV002409013

NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)

SNV
Germline

ChrX:32389592

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378955

rs_371646182

4 SubmittersRCV000862504 RCV001825715 RCV003330971 RCV005821808

NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)

SNV
Germline

ChrX:32438282

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379130

rs_187617705

4 SubmittersRCV000869085 RCV001169828 RCV001825742 RCV001619851

NM_004006.3(DMD):c.1688G>A (p.Arg563His)

SNV
Germline

ChrX:32573761

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
not specified
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379767

rs_191197223

5 SubmittersRCV000868351 RCV001201206 RCV001165933 RCV001830900 RCV002399911

NM_004006.3(DMD):c.8563T>C (p.Leu2855=)

SNV
Germline

ChrX:31479088

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378034

rs_750917672

4 SubmittersRCV000874554 RCV001169689 RCV001830919 RCV002444951

NM_004006.3(DMD):c.1083A>G (p.Thr361=)

SNV
Germline

ChrX:32645030

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA10379977

rs_767325921

6 SubmittersRCV000873431 RCV001168121 RCV001310703 RCV002427193 RCV001835995 RCV004738039

NM_004006.3(DMD):c.985T>A (p.Ser329Thr)

SNV
Germline

ChrX:32645128

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10379987

rs_756590471

4 SubmittersRCV000876165 RCV001510543 RCV001830924

NM_004006.3(DMD):c.10830G>A (p.Thr3610=)

SNV
Germline

ChrX:31146382

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328402772

rs_113604000

3 SubmittersRCV000951736 RCV001832199 RCV003380792

NM_004006.3(DMD):c.5728A>C (p.Arg1910=)

SNV
Germline

ChrX:32343145

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378615

rs_761647447

4 SubmittersRCV000959363 RCV001169758 RCV001836038 RCV002346165

NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)

SNV
Germline

ChrX:32463492

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379296

rs_141887693

6 SubmittersRCV000902549 RCV001027922 RCV002502672 RCV002454076 RCV003145231

NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)

SNV
Germline

ChrX:32390088

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412663932

rs_1603632322

2 SubmittersRCV000990666 RCV004596384

NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)

SNV
Germline

ChrX:32565728

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412672283

rs_1603636537

4 SubmittersRCV000990721 RCV001784513 RCV004798878

NM_004006.3(DMD):c.196A>T (p.Lys66Ter)

SNV
Germline

ChrX:32844851

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412674774

rs_1603447072

2 SubmittersRCV000990758 RCV006642693

NM_004006.3(DMD):c.3276+1G>C

SNV
Germline

ChrX:32464585

Pathogenic/Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412664667

rs_398123934

4 SubmittersRCV000991898 RCV002549770 RCV006642696

NM_004006.3(DMD):c.4383C>T (p.Phe1461=)

SNV
Germline

ChrX:32389636

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA10378959

rs_752977828

3 SubmittersRCV000999377 RCV001427740 RCV001827150

NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)

SNV
Germline

ChrX:31223056

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA328409358

rs_200928985

5 SubmittersRCV001001050 RCV001248680 RCV001832317 RCV002372726 RCV004738114

NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)

SNV
Germline

ChrX:31479042

Conflicting classifications of pathogenicity

not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10378027

rs_373481995

5 SubmittersRCV001002379 RCV001038456 RCV001832322 RCV002445161 RCV002481802

NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)

SNV
Germline

ChrX:31478339

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA412654337

rs_1188233243

2 SubmittersRCV001035307 RCV002481840

NM_004006.3(DMD):c.10712G>A (p.Arg3571His)

SNV
Germline

ChrX:31147360

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA328402836

rs_935091512

6 SubmittersRCV001041741 RCV001832404 RCV002497372 RCV003160277 RCV003145270

NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)

SNV
Germline

ChrX:31177946

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412652612

rs_376745644

4 SubmittersRCV001059666 RCV002282444 RCV003462582 RCV006642819

NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)

SNV
Germline

ChrX:31178680

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377677

rs_367657320

3 SubmittersRCV001061054 RCV001832546 RCV002402434

NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)

SNV
Germline

ChrX:31180446

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA412653161

rs_2041037870

3 SubmittersRCV001055649 RCV001811633 RCV001832504

NM_004006.3(DMD):c.8723C>T (p.Ala2908Val)

SNV
Germline

ChrX:31478320

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412654302

rs_2067972248

3 SubmittersRCV001051323 RCV001832471 RCV006347352

NM_004006.3(DMD):c.8159G>C (p.Arg2720Pro)

SNV
Germline

ChrX:31627731

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412657177

rs_760495223

3 SubmittersRCV001054893 RCV001832498 RCV005821877

NM_004006.3(DMD):c.5788C>T (p.Arg1930Cys)

SNV
Germline

ChrX:32342234

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412665183

rs_1295144399

3 SubmittersRCV001069430 RCV001836111 RCV006347389

NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)

SNV
Germline

ChrX:32348449

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA327985119

rs_893536407

3 SubmittersRCV001070066 RCV001836113 RCV002348480

NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)

SNV
Germline

ChrX:32386380

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412662618

rs_1431604157

5 SubmittersRCV001048445 RCV001200317 RCV001827305 RCV003117723 RCV005540245

NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)

SNV
Germline

ChrX:32389643

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378960

rs_755835144

5 SubmittersRCV001044849 RCV001832425 RCV002327287 RCV003145277 RCV003233935

NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)

SNV
Germline

ChrX:32438358

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412669450

rs_2098269308

4 SubmittersRCV001063630 RCV001827408 RCV002497454 RCV004030498

NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)

SNV
Germline

ChrX:32454717

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379249

rs_374993642

5 SubmittersRCV001068128 RCV001827446 RCV001811639 RCV002339338

NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)

SNV
Germline

ChrX:32485005

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412670815

rs_375557173

3 SubmittersRCV001040916 RCV001836073 RCV002436548

NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)

SNV
Germline

ChrX:32491300

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412671891

rs_1382610511

3 SubmittersRCV001057816 RCV001836097 RCV003160465

NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)

SNV
Germline

ChrX:32565740

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412672359

rs_1488881909

3 SubmittersRCV001052814 RCV001827330 RCV002416394

NM_004006.3(DMD):c.1534C>T (p.His512Tyr)

SNV
Germline

ChrX:32595825

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379827

rs_147136371

5 SubmittersRCV001048801 RCV001827307 RCV003145291 RCV002489603 RCV004031527

NM_004006.3(DMD):c.1463G>A (p.Arg488His)

SNV
Germline

ChrX:32614322

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412669776

rs_794727065

3 SubmittersRCV001037954 RCV001832385 RCV002489548

NM_004006.3(DMD):c.940C>G (p.Arg314Gly)

SNV
Germline

ChrX:32697890

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412668416

rs_764526102

3 SubmittersRCV001051755 RCV001832475 RCV002374908

NM_004006.3(DMD):c.7310-5T>G

SNV
Germline

ChrX:31774197

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA916081253

rs_2090517382

3 SubmittersRCV001048669 RCV001832455 RCV004031523

NM_004006.3(DMD):c.2804-1G>C

SNV
Germline

ChrX:32472310

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412668288

rs_398123909

3 SubmittersRCV001042956 RCV001784585 RCV006642764

NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)

SNV
Germline

ChrX:31478158

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
not specified
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10377973

rs_151087470

6 SubmittersRCV001167230 RCV001247077 RCV001833724 RCV003339522 RCV003230638 RCV005039991

NM_004006.3(DMD):c.7236G>A (p.Ala2412=)

SNV
Germline

ChrX:31820048

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378308

rs_149003002

3 SubmittersRCV001165710 RCV001828581 RCV001474079

NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)

SNV
Germline

ChrX:31932219

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378419

rs_139937177

5 SubmittersRCV001167893 RCV001224835 RCV001833726 RCV002365820 RCV003438705

NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)

SNV
Germline

ChrX:31178679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10377676

rs_770516401

3 SubmittersRCV001197492 RCV002484071 RCV003621588

NM_004006.3(DMD):c.4745T>C (p.Val1582Ala)

SNV
Germline

ChrX:32380610

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378872

rs_147231219

3 SubmittersRCV001225000 RCV001833944 RCV004609679

NM_004006.3(DMD):c.2312C>T (p.Ala771Val)

SNV
Germline

ChrX:32501823

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Dilated cardiomyopathy 3B
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA412673690

rs_1245604423

5 SubmittersRCV001218999 RCV001828743 RCV002227510 RCV003380895 RCV002484188

NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)

SNV
Germline

ChrX:31209557

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10377796

rs_185247491

4 SubmittersRCV001206434 RCV001828655 RCV002375142 RCV002484115

NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)

SNV
Germline

ChrX:31507350

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10378095

rs_750419527

3 SubmittersRCV001206730 RCV001833814 RCV002484117

NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)

SNV
Germline

ChrX:31679448

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Condition: not provided
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378211

rs_747127624

4 SubmittersRCV001213365 RCV001833868 RCV003145394 RCV002491654

NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)

SNV
Germline

ChrX:32343220

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412666024

rs_1295935628

3 SubmittersRCV001204983 RCV002249793

NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)

SNV
Germline

ChrX:32380627

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378876

rs_757160024

4 SubmittersRCV001204219 RCV001833796 RCV002484103 RCV004994321

NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)

SNV
Germline

ChrX:32438255

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412669229

rs_907237595

3 SubmittersRCV001202967 RCV001785794 RCV006636650

NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)

SNV
Germline

ChrX:32472187

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412667864

rs_767387334

3 SubmittersRCV001207235 RCV002249797

NM_004006.3(DMD):c.2780C>T (p.Ala927Val)

SNV
Germline

ChrX:32484942

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Duchenne muscular dystrophy
Dystrophin deficiency
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379442

rs_41312094

4 SubmittersRCV001202745 RCV001828627 RCV001812246 RCV004609653

NM_004006.3(DMD):c.11015-5T>A

SNV
Germline

ChrX:31126678

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377478

rs_753104670

4 SubmittersRCV001225092 RCV001828793 RCV002484220 RCV002429953

NM_004006.3(DMD):c.3162+1G>A

SNV
Germline

ChrX:32468497

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412666728

rs_1335666832

2 SubmittersRCV001215695 RCV002249807

NM_004006.3(DMD):c.8543A>G (p.His2848Arg)

SNV
Germline

ChrX:31496792

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378055

rs_146890210

3 SubmittersRCV001228187 RCV001828821 RCV002447143

NM_004006.3(DMD):c.6854C>T (p.Pro2285Leu)

SNV
Germline

ChrX:31929654

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA412657883

rs_1438782223

3 SubmittersRCV001237587 RCV001828891 RCV005909125

NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)

SNV
Germline

ChrX:31147411

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377549

rs_199974153

3 SubmittersRCV001241137 RCV001828968 RCV005550219

NM_004006.3(DMD):c.9395C>A (p.Ala3132Asp)

SNV
Germline

ChrX:31209666

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377812

rs_200592992

3 SubmittersRCV001243800 RCV001835184 RCV005550222

NM_004006.3(DMD):c.8137A>G (p.Asn2713Asp)

SNV
Germline

ChrX:31627753

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10378138

rs_766553671

3 SubmittersRCV001245734 RCV001836238 RCV005232212

NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)

SNV
Germline

ChrX:31658072

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA328460869

rs_1015097529

4 SubmittersRCV001239674 RCV001828929 RCV002418820 RCV003145460

NM_004006.3(DMD):c.7795G>A (p.Ala2599Thr)

SNV
Germline

ChrX:31679452

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412656715

rs_1569220550

3 SubmittersRCV001240351 RCV001828948 RCV004034647

NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)

SNV
Germline

ChrX:31679536

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378224

rs_757011771

4 SubmittersRCV001239737 RCV001828933 RCV002480788 RCV002402758

NM_004006.3(DMD):c.5660A>G (p.Asp1887Gly)

SNV
Germline

ChrX:32343213

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412665984

rs_1239878805

4 SubmittersRCV001239695 RCV001836202 RCV004994362 RCV006279489

NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)

SNV
Germline

ChrX:32464669

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379329

rs_774756042

3 SubmittersRCV001241818 RCV001828986 RCV002322148

NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)

SNV
Germline

ChrX:32545225

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379640

rs_772229363

3 SubmittersRCV001246815 RCV001664779 RCV001835282

NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)

SNV
Germline

ChrX:32573588

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379737

rs_376238937

5 SubmittersRCV001243370 RCV001835166 RCV002402773 RCV003145473

NM_004006.3(DMD):c.941G>T (p.Arg314Leu)

SNV
Germline

ChrX:32697889

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380023

rs_751164104

5 SubmittersRCV001288598 RCV001248477 RCV001836249 RCV002375306

NM_004006.3(DMD):c.479C>A (p.Thr160Asn)

SNV
Germline

ChrX:32816519

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380150

rs_748752465

4 SubmittersRCV001242139 RCV001828991 RCV003145468 RCV004034706

NM_004006.3(DMD):c.244C>T (p.Arg82Trp)

SNV
Germline

ChrX:32844803

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10380219

rs_772546251

3 SubmittersRCV001239249 RCV001834080 RCV002447190

NM_004006.3(DMD):c.2949+2T>C

SNV
Germline

ChrX:32472162

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Condition: not provided
Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412667682

rs_2040709857

5 SubmittersRCV001226167 RCV002222680 RCV002276666 RCV003462772 RCV006636702

NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)

SNV
Germline

ChrX:32645026

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412661913

rs_2059695805

2 SubmittersRCV001250160 RCV006636748

NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)

SNV
Germline

ChrX:31929661

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1A
Condition: not provided
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378394

rs_751145927

5 SubmittersRCV001256877 RCV001586095 RCV001830058 RCV002366096 RCV002570611

NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)

SNV
Germline

ChrX:32438330

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412669391

rs_745640786

2 SubmittersRCV001261532 RCV004796395

NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)

SNV
Germline

ChrX:32342228

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Progressive muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412665158

rs_2097747388

2 SubmittersRCV001263657 RCV006694898

NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)

SNV
Germline

ChrX:32365066

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Progressive muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412671906

rs_2097849830

4 SubmittersRCV002537663 RCV005614508 RCV006694940 RCV006730492

NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)

SNV
Germline

ChrX:31929685

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Single Submitter

CA412657942

rs_2094828872

2 SubmittersRCV001290526 RCV001835379

NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)

SNV
Germline

ChrX:31134165

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10377499

rs_766599250

3 SubmittersRCV001299903 RCV001830166 RCV003382506

NM_004006.3(DMD):c.5684A>T (p.Asp1895Val)

SNV
Germline

ChrX:32343189

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10378623

rs_376202643

3 SubmittersRCV001300104 RCV001830169 RCV005236776

NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)

SNV
Germline

ChrX:32484946

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA328015880

rs_1055371114

3 SubmittersRCV001306946 RCV001830234 RCV002437047

NM_004006.3(DMD):c.7064A>G (p.Asn2355Ser)

SNV
Germline

ChrX:31875222

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412659932

rs_1366729351

3 SubmittersRCV001314390 RCV001830280 RCV005330682

NM_004006.3(DMD):c.5969C>T (p.Pro1990Leu)

SNV
Germline

ChrX:32310230

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiomyopathy
Becker muscular dystrophy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA328532036

rs_961227665

3 SubmittersRCV001315589 RCV001830295

NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu)

SNV
Germline

ChrX:32390121

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412664039

rs_1603632326

5 SubmittersRCV001325184 RCV001836313 RCV003490192 RCV004995683

NM_004006.3(DMD):c.3677C>G (p.Ala1226Gly)

SNV
Germline

ChrX:32448565

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379208

rs_752521629

3 SubmittersRCV001317433 RCV001830305 RCV004034426

NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)

SNV
Germline

ChrX:32463545

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412664525

rs_200596739

5 SubmittersRCV001323313 RCV002322246 RCV001836311 RCV004998822

NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)

SNV
Germline

ChrX:32464687

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Becker muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379333

rs_763548540

3 SubmittersRCV001324897 RCV001830996 RCV002322250

NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)

SNV
Germline

ChrX:32501789

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379553

rs_150692967

4 SubmittersRCV001327732 RCV001830389 RCV002447382 RCV002493712

NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)

SNV
Germline

ChrX:32614397

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412670120

rs_863224981

5 SubmittersRCV001317193 RCV001664821 RCV001836295 RCV002486251 RCV006726221

NM_004006.3(DMD):c.969A>T (p.Glu323Asp)

SNV
Germline

ChrX:32645144

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379991

rs_774626343

3 SubmittersRCV001337184 RCV001836321 RCV003145580

NM_004006.3(DMD):c.5682T>G (p.Asp1894Glu)

SNV
Germline

ChrX:32343191

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Dystrophin deficiency
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA412665866

rs_779574344

3 SubmittersRCV001362201 RCV006279635 RCV001831227

NM_004006.3(DMD):c.1812+5G>A

SNV
Germline

ChrX:32573525

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA1139768237

rs_2149136134

2 SubmittersRCV001726537 RCV006636829

NM_004006.3(DMD):c.10262+1G>T

SNV
Germline

ChrX:31177931

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
not specified

Criteria Provided
Conflicting Classifications

CA412652581

rs_145603325

3 SubmittersRCV001378126 RCV001826135 RCV002246356

NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)

SNV
Germline

ChrX:31496919

Pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA412655637

rs_2147076500

4 SubmittersRCV001384486 RCV001780338 RCV001831388 RCV002447512

NM_004006.3(DMD):c.568C>T (p.Gln190Ter)

SNV
Germline

ChrX:32809574

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

CA412673924

rs_2148751523

2 SubmittersRCV001383372 RCV001826163

NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)

SNV
Germline

ChrX:32491467

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA328020020

rs_868641814

3 SubmittersRCV001433672 RCV001831490 RCV003145662

NM_004006.3(DMD):c.3777G>A (p.Lys1259=)

SNV
Germline

ChrX:32448465

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA515714947

rs_1445951268

3 SubmittersRCV003382596 RCV001469209 RCV001826298

NM_004006.3(DMD):c.3696A>G (p.Ala1232=)

SNV
Germline

ChrX:32448546

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10379205

rs_369971712

4 SubmittersRCV001476573 RCV001826307 RCV002359070 RCV003145669

NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)

SNV
Germline

ChrX:32491427

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Dystrophin deficiency
Becker muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10379514

rs_778811645

4 SubmittersRCV001455588 RCV001826280 RCV002449224

NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)

SNV
Germline

ChrX:32342159

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Cardiovascular phenotype
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378586

rs_377039314

4 SubmittersRCV001531764 RCV002568898 RCV002359155 RCV002495860

NM_004006.3(DMD):c.6576G>A (p.Trp2192Ter)

SNV
Germline

ChrX:31968377

Pathogenic

Abnormality of the musculature
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA412659545

rs_764789298

3 SubmittersRCV001814529 RCV006257337 RCV005914611

NM_004006.3(DMD):c.3163-1G>T

SNV
Germline

ChrX:32464700

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412665222

rs_2148428395

4 SubmittersRCV001551244 RCV005916134 RCV006637045

NM_004006.3(DMD):c.71G>A (p.Trp24Ter)

SNV
Germline

ChrX:33020161

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412675260

rs_2147755143

2 SubmittersRCV001730116 RCV002471139

NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter)

SNV
Unknown

ChrX:32343241

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412666201

rs_2146992010

1 SubmittersRCV001775054

NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)

SNV
Germline

ChrX:32472240

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412668088

rs_2148485357

1 SubmittersRCV002246486

NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)

SNV
Germline

ChrX:31260992

Pathogenic

Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412652513

rs_2147649257

2 SubmittersRCV002246487 RCV006638932

NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)

SNV
Germline

ChrX:31348610

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412653767

rs_2148492200

1 SubmittersRCV002246488

NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)

SNV
Germline

ChrX:32454709

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Multiple Submitters
No Conflicts

CA327996980

rs_868836192

3 SubmittersRCV001781699 RCV001868835 RCV004796658

NM_004006.3(DMD):c.5637G>A (p.Trp1879Ter)

SNV
Germline

ChrX:32343236

Pathogenic

Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_865856945

1 SubmittersRCV004796900

NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)

SNV
Germline

ChrX:31875313

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412660141

rs_781054741

1 SubmittersRCV002246489

NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)

SNV
Germline

ChrX:31679497

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412656820

rs_2148733515

1 SubmittersRCV002246490

NM_004006.3(DMD):c.960+1G>T

SNV
Germline

ChrX:32697869

Likely pathogenic

Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10380017

rs_199783662

3 SubmittersRCV001781755 RCV006638933

NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)

SNV
Germline

ChrX:32614410

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412670260

rs_2149350253

2 SubmittersRCV002503263 RCV002541122

NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)

SNV
Germline

ChrX:32501770

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412673581

rs_763844939

1 SubmittersRCV002246491

NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)

SNV
Germline

ChrX:32485053

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412670992

rs_1557380616

2 SubmittersRCV002034548 RCV002246492

NM_004006.3(DMD):c.4518+1G>T

SNV
Germline

ChrX:32389500

Pathogenic

Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412662903

rs_2147610408

2 SubmittersRCV001781826 RCV006638934

NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)

SNV
Germline

ChrX:32287533

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412665515

rs_2148456401

1 SubmittersRCV002246493

NM_004006.3(DMD):c.4845+2T>C

SNV
Germline

ChrX:32380508

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

rs_1557315881

1 SubmittersRCV004819271

NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)

SNV
Unknown

ChrX:31679392

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412656586

rs_2148732436

1 SubmittersRCV003466208

NM_004006.3(DMD):c.394C>T (p.Gln132Ter)

SNV
Germline

ChrX:32816604

Pathogenic

Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412674311

rs_2148807584

2 SubmittersRCV002246494 RCV005614675

NM_004006.3(DMD):c.709C>T (p.Gln237Ter)

SNV
Germline

ChrX:32699234

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412669056

rs_2147605826

1 SubmittersRCV002246495

NM_004006.3(DMD):c.1704+1G>T

SNV
Germline

ChrX:32573744

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412673313

rs_794727123

2 SubmittersRCV002471158 RCV002541127

NM_004006.3(DMD):c.2623-2A>G

SNV
Germline

ChrX:32485101

Pathogenic

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412671192

rs_2148584710

2 SubmittersRCV003513665 RCV004796831

NM_004006.3(DMD):c.208A>T (p.Arg70Ter)

SNV
Germline

ChrX:32844839

Pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412674751

rs_2080510348

2 SubmittersRCV001781978 RCV002246496

NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)

SNV
Germline

ChrX:32595849

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412665671

rs_2149265022

3 SubmittersRCV002254357 RCV003512133 RCV006638935

NM_004006.3(DMD):c.8111G>A (p.Trp2704Ter)

SNV
Germline

ChrX:31627779

Pathogenic

Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2148422718

1 SubmittersRCV005041767

NM_004006.3(DMD):c.9001C>T (p.Gln3001Ter)

SNV
Germline

ChrX:31444564

Pathogenic

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2149075577

3 SubmittersRCV004588833 RCV005871523 RCV006637119

NM_004006.3(DMD):c.8668+1G>A

SNV
Germline

ChrX:31478982

Pathogenic

Condition: not provided
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412654423

rs_2149256957

2 SubmittersRCV001782087 RCV001843311

NM_004006.3(DMD):c.960+2T>G

SNV
Germline

ChrX:32697868

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Duchenne muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_776457078

5 SubmittersRCV004700068 RCV005051470 RCV005618373 RCV006474533 RCV006605419

NM_004006.3(DMD):c.1603-1G>A

SNV
Germline

ChrX:32573847

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

rs_2149139061

2 SubmittersRCV005613393 RCV005934587

NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)

SNV
Unknown

ChrX:32464606

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412664764

rs_745585519

1 SubmittersRCV001799532

NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)

SNV
Unknown

ChrX:32454703

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412662972

rs_2148348451

1 SubmittersRCV003466207

NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)

SNV
Germline

ChrX:32411835

Pathogenic

Becker muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412666404

rs_2147935387

3 SubmittersRCV002246497 RCV005428418 RCV006638936

NM_004006.3(DMD):c.4518+1G>A

SNV
Germline

ChrX:32389500

Pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

rs_2147610408

1 SubmittersRCV006641816

NM_004006.3(DMD):c.5449-1G>A

SNV
Germline

ChrX:32346081

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

rs_2147033447

1 SubmittersRCV005613254

NM_004006.3(DMD):c.5444A>G (p.Asp1815Gly)

SNV
Germline

ChrX:32348410

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412667562

rs_2147063753

2 SubmittersRCV003513658 RCV006643083

NM_004006.3(DMD):c.4519-5C>G

SNV
Germline

ChrX:32386470

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA2573055270

rs_2147560185

2 SubmittersRCV002471163 RCV003314017

NM_004006.3(DMD):c.4846-1G>C

SNV
Germline

ChrX:32365200

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412672668

rs_1603631757

3 SubmittersRCV001797905 RCV001868902 RCV005040387

NM_004006.3(DMD):c.1591G>T (p.Glu531Ter)

SNV
Germline

ChrX:32595768

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412665295

rs_2149264484

2 SubmittersRCV001900883 RCV005614707

NM_004006.3(DMD):c.5740-1G>T

SNV
Germline

ChrX:32342283

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412665384

rs_2148813707

2 SubmittersRCV001930006 RCV002246562

NM_004006.3(DMD):c.1299C>A (p.Cys433Ter)

SNV
Germline

ChrX:32644164

Pathogenic/Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412660907

rs_372135475

2 SubmittersRCV006639107 RCV001940749

NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)

SNV
Germline

ChrX:32565779

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA412672608

rs_2149094935

3 SubmittersRCV002025098 RCV002479655 RCV004042476

NM_004006.3(DMD):c.10921+2T>C

SNV
Germline

ChrX:31146289

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412648426

rs_2147921052

2 SubmittersRCV002019842 RCV004571936

NM_004006.3(DMD):c.5146G>A (p.Val1716Met)

SNV
Germline

ChrX:32364590

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10378767

rs_748814615

3 SubmittersRCV002008850 RCV002479680 RCV004612075

NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)

SNV
Germline

ChrX:31774012

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA412658806

rs_1312256471

2 SubmittersRCV001980697 RCV002479689

NM_004006.3(DMD):c.3167A>G (p.His1056Arg)

SNV
Germline

ChrX:32464695

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10379335

rs_757192472

2 SubmittersRCV002021141 RCV005050525

NM_004006.3(DMD):c.6912+1G>A

SNV
Germline

ChrX:31929595

Likely pathogenic

Condition: not provided
Duchenne muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412657750

rs_746082869

4 SubmittersRCV002224533 RCV003093881 RCV004782906 RCV006640896

NM_004006.3(DMD):c.3787-2A>G

SNV
Germline

ChrX:32441316

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412670628

rs_1474837238

2 SubmittersRCV002249026 RCV005058176

NM_004006.3(DMD):c.10223+5G>C

SNV
Germline

ChrX:31178664

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA2573158727

rs_2148290176

1 SubmittersRCV002249864

NM_004006.3(DMD):c.10223+4A>G

SNV
Germline

ChrX:31178665

Conflicting classifications of pathogenicity

Becker muscular dystrophy
DMD-related disorder
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA2573158728

rs_2148290215

3 SubmittersRCV002249867 RCV004529109 RCV005930059

NM_004006.3(DMD):c.9974+2T>C

SNV
Germline

ChrX:31182736

Pathogenic

Becker muscular dystrophy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA412653255

rs_2148333619

2 SubmittersRCV002249868 RCV005930060

NM_004006.3(DMD):c.9808-2A>G

SNV
Germline

ChrX:31182906

Pathogenic/Likely pathogenic

Becker muscular dystrophy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA412653716

rs_1602456486

2 SubmittersRCV002249871 RCV002252779

NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)

SNV
Germline

ChrX:31209574

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412649891

rs_2148591514

1 SubmittersRCV002249875

NM_004006.3(DMD):c.9362-1G>C

SNV
Germline

ChrX:31209700

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412650176

rs_2148593122

1 SubmittersRCV002249876

NM_004006.3(DMD):c.9287-1G>A

SNV
Germline

ChrX:31223122

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412651039

rs_2147071925

1 SubmittersRCV002249878

NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)

SNV
Germline

ChrX:31496889

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412655571

rs_2147075923

1 SubmittersRCV002249882

NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)

SNV
Germline

ChrX:31627684

Pathogenic/Likely pathogenic

Becker muscular dystrophy
Progressive muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412657071

rs_2148421809

2 SubmittersRCV002249884 RCV006695074

NM_004006.3(DMD):c.8028-1G>A

SNV
Germline

ChrX:31627863

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412657460

rs_2148423696

1 SubmittersRCV002249886

NM_004006.3(DMD):c.7661-2A>C

SNV
Germline

ChrX:31679588

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412657034

rs_1556806356

1 SubmittersRCV002249887

NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)

SNV
Germline

ChrX:31875276

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412660054

rs_2149680248

1 SubmittersRCV002249889

NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)

SNV
Germline

ChrX:31929694

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412657961

rs_1557010214

1 SubmittersRCV002249890

NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)

SNV
Germline

ChrX:31968439

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412659679

rs_2150187643

1 SubmittersRCV002249891

NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)

SNV
Germline

ChrX:32380569

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412661182

rs_2147470742

1 SubmittersRCV002249898

NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)

SNV
Germline

ChrX:32380632

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412661477

rs_2147472174

1 SubmittersRCV002249900

NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)

SNV
Germline

ChrX:32501830

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412673707

rs_2148691516

1 SubmittersRCV002249906

NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)

SNV
Germline

ChrX:32565831

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412672853

rs_2149095319

1 SubmittersRCV002249910

NM_004006.3(DMD):c.1602+2T>A

SNV
Germline

ChrX:32595755

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412665242

rs_2149264374

1 SubmittersRCV002249912

NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)

SNV
Germline

ChrX:32614305

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412669694

rs_1234153462

1 SubmittersRCV002249913

NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)

SNV
Germline

ChrX:31968468

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412659745

rs_2534077244

1 SubmittersRCV002282801 RCV004527445

NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)

SNV
Germline

ChrX:32491299

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA10379490

rs_766057861

3 SubmittersRCV002437135 RCV003102014 RCV005863689

NM_004006.3(DMD):c.1704+2T>C

SNV
Germline

ChrX:32573743

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412673311

rs_2149138024

1 SubmittersRCV002471242

NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)

SNV
Germline

ChrX:32287529

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy
Thyroid cancer, nonmedullary, 1
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

CA412665488

rs_2519918676

5 SubmittersRCV003084929 RCV003465962 RCV005930483 RCV006641215 RCV006687595

NM_004006.3(DMD):c.1812+1G>T

SNV
Germline

ChrX:32573529

Pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412673062

rs_373286166

2 SubmittersRCV002603796 RCV006640989

NM_004006.3(DMD):c.6912+1G>T

SNV
Germline

ChrX:31929595

Likely pathogenic

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10378384

rs_746082869

3 SubmittersRCV002736008 RCV005639434 RCV006641027

NM_004006.3(DMD):c.1993-2A>G

SNV
Germline

ChrX:32545336

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA412668725

rs_2526095742

3 SubmittersRCV002856949 RCV006641068 RCV005928619

NM_004006.3(DMD):c.6640T>G (p.Ser2214Ala)

SNV
Germline

ChrX:31932202

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy
Dilated cardiomyopathy 3B

Criteria Provided
Conflicting Classifications

CA412658374

rs_1430156647

2 SubmittersRCV002932625 RCV005251006

NM_004006.3(DMD):c.620T>A (p.Leu207Ter)

SNV
Germline

ChrX:32809522

Pathogenic/Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412673815

rs_2148750854

2 SubmittersRCV003054589 RCV006641139

NM_004006.3(DMD):c.6438+88106A>G

SNV
Germline

ChrX:32128810

Conflicting classifications of pathogenicity

Condition: not provided
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2573332191

rs_2536636129

3 SubmittersRCV003146151 RCV003226002 RCV006635579

NM_004006.3(DMD):c.6291-13537A>G

SNV
Germline

ChrX:32230600

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA2580100620

rs_2519219632

1 SubmittersRCV003223365

NM_004006.3(DMD):c.5448+67A>G

SNV
Germline

ChrX:32348339

Pathogenic/Likely pathogenic

Condition: not provided
Becker muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA327985023

rs_72468626

3 SubmittersRCV003313487 RCV005254760 RCV006641337

NM_004006.3(DMD):c.3276+2T>C

SNV
Unknown

ChrX:32464584

Likely pathogenic

Becker muscular dystrophy

No Assertion Criteria Provided

CA412664662

rs_2148427081

1 SubmittersRCV003326096

NM_004006.3(DMD):c.1603-1G>T

SNV
Unknown

ChrX:32573847

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412673549

rs_2149139061

1 SubmittersRCV003466205

NM_004006.3(DMD):c.832-2A>G

SNV
Unknown

ChrX:32698000

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412668769

rs_2063781031

1 SubmittersRCV003466206

NM_004006.3(DMD):c.960+1G>A

SNV
Germline

ChrX:32697869

Likely pathogenic

Becker muscular dystrophy
Progressive muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10380018

rs_199783662

3 SubmittersRCV003459976 RCV006257378 RCV006642843

NM_004006.3(DMD):c.11046+2T>C

SNV
Unknown

ChrX:31126640

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

CA412654940

rs_2519115447

1 SubmittersRCV003466211

NM_004006.3(DMD):c.9564-30A>G

SNV
Germline

ChrX:31206697

Pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004759780

NM_004006.3(DMD):c.8218-1G>C

SNV
Germline

ChrX:31507454

Likely pathogenic

Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412656455

rs_2525977277

2 SubmittersRCV003489353 RCV006643034

NM_004006.3(DMD):c.10224-2A>G

SNV
Germline

ChrX:31177972

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412652661

rs_2519911698

2 SubmittersRCV003513115 RCV005616664

NM_004006.3(DMD):c.1993-1G>A

SNV
Germline

ChrX:32545335

Likely pathogenic

Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412668720

rs_2526095691

2 SubmittersRCV003622784 RCV006643151

NM_004006.3(DMD):c.30T>A (p.Cys10Ter)

SNV
Germline

ChrX:33211283

Conflicting classifications of pathogenicity

Duchenne muscular dystrophy
Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Conflicting Classifications

CA412675103

rs_2521941756

3 SubmittersRCV003835003 RCV005637080 RCV006643272

NM_004006.3(DMD):c.10554-1G>A

SNV
Germline

ChrX:31147519

Likely pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

rs_2519446696

1 SubmittersRCV004586403

NM_004006.3(DMD):c.6117+1G>T

SNV
Germline

ChrX:32310081

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2520265920

2 SubmittersRCV004594746

NM_004006.3(DMD):c.3794G>A (p.Trp1265Ter)

SNV
Germline

ChrX:32441307

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Nonpapillary renal cell carcinoma
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004783439 RCV005935629 RCV006637151

NM_004006.3(DMD):c.6290+3076A>G

SNV
Germline

ChrX:32284453

Pathogenic

Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004789915 RCV006551226

NM_004006.3(DMD):c.10484T>A (p.Leu3495Ter)

SNV
Germline

ChrX:31169512

Pathogenic

Becker muscular dystrophy
Dilated cardiomyopathy 3B
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004795682

NM_004006.3(DMD):c.5586+1G>T

SNV
Germline

ChrX:32345942

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV004995319 RCV006484342 RCV006637168

NM_004006.3(DMD):c.2292+1G>T

SNV
Germline

ChrX:32518007

Likely pathogenic

Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005041772

NM_004006.3(DMD):c.832-1G>T

SNV
Germline

ChrX:32697999

Likely pathogenic

Dilated cardiomyopathy 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041774 RCV006637290

NM_004006.3(DMD):c.10554-2996T>G

SNV
Unknown

ChrX:31150514

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005416779

NM_004006.3(DMD):c.5326-5219T>G

SNV
Unknown

ChrX:32353747

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005416780

NM_004006.3(DMD):c.1813-733A>G

SNV
Unknown

ChrX:32566614

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005416781

NM_004006.3(DMD):c.9163+2510G>A

SNV
Germline

ChrX:31346046

Likely pathogenic

Becker muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005052132 RCV005241080

NM_004006.3(DMD):c.7309+2T>G

SNV
Germline

ChrX:31819973

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005409573 RCV005618492

NM_004006.3(DMD):c.187-5C>T

SNV
Germline

ChrX:32844865

Conflicting classifications of pathogenicity

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005613263 RCV005826777 RCV006484821

NM_004006.3(DMD):c.10417C>T (p.Gln3473Ter)

SNV
Germline

ChrX:31169579

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005613522

NM_004006.3(DMD):c.7873-1G>A

SNV
Germline

ChrX:31658145

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005615397

NM_004006.3(DMD):c.832-1G>C

SNV
Germline

ChrX:32697999

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005615400

NM_004006.3(DMD):c.3432G>A (p.Gln1144=)

SNV
Germline

ChrX:32463439

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005615405 RCV006352802

NM_004006.3(DMD):c.6641C>G (p.Ser2214Ter)

SNV
Germline

ChrX:31932201

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005613128

NM_004006.3(DMD):c.3826G>T (p.Glu1276Ter)

SNV
Germline

ChrX:32441275

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005865014

NM_004006.3(DMD):c.4233+1G>C

SNV
Germline

ChrX:32411751

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005882224

NM_004006.3(DMD):c.7200+1G>T

SNV
Germline

ChrX:31836717

Conflicting classifications of pathogenicity

Condition: not provided
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006278744 RCV006637394

NM_004006.3(DMD):c.3787-107A>G

SNV
Germline

ChrX:32441421

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Becker muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006459483 RCV006635615

NM_004006.3(DMD):c.265-513C>T

SNV
Germline

ChrX:32823900

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006635659

NM_004006.3(DMD):c.10099G>T (p.Glu3367Ter)

SNV
Germline

ChrX:31178793

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641802

NM_004006.3(DMD):c.10888C>T (p.Arg3630Ter)

SNV
Germline

ChrX:31146324

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641804

NM_004006.3(DMD):c.1483-1G>A

SNV
Germline

ChrX:32595877

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641805

NM_004006.3(DMD):c.1735G>T (p.Glu579Ter)

SNV
Germline

ChrX:32573607

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641806

NM_004006.3(DMD):c.1801C>T (p.Gln601Ter)

SNV
Germline

ChrX:32573541

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641807

NM_004006.3(DMD):c.1993-2A>T

SNV
Germline

ChrX:32545336

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641809

NM_004006.3(DMD):c.3432+2240A>G

SNV
Germline

ChrX:32461199

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641811

NM_004006.3(DMD):c.3842G>A (p.Trp1281Ter)

SNV
Germline

ChrX:32441259

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641814

NM_004006.3(DMD):c.4913T>A (p.Leu1638Ter)

SNV
Germline

ChrX:32365132

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641819

NM_004006.3(DMD):c.5449-1G>T

SNV
Germline

ChrX:32346081

Likely pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641821

NM_004006.3(DMD):c.93+2T>C

SNV
Germline

ChrX:33020137

Pathogenic

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006641830

NM_004006.3(DMD):c.1150-3C>G

SNV
Germline

ChrX:32644316

Likely pathogenic

Becker muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006703738