Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)	SNV Germline	Chr2:71553071	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253901	rs_121908953	4 SubmittersRCV000007047 RCV000301362 RCV003574697 RCV006445460
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	SNV Germline	Chr2:71682597	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Abnormality of the musculature Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222203	rs_121908955	15 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961 RCV005025020 RCV006252413
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)	SNV Germline	Chr2:71564074	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222139	rs_121908956	5 SubmittersRCV000007055 RCV000007056 RCV000790785 RCV000807968 RCV005430920
NM_001130987.2(DYSF):c.5174+5G>A	SNV Germline	Chr2:71664443	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA253906	rs_745891180	6 SubmittersRCV000007057 RCV001781198 RCV002298436 RCV001851715 RCV003466824
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	SNV Germline	Chr2:71570300	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222147	rs_28937581	10 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846 RCV005031402
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	SNV Germline	Chr2:71570704	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222152	rs_121908958	11 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764 RCV006252414
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)	SNV Germline	Chr2:71674242	Pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA118412	rs_121908959	14 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177 RCV005025022
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)	SNV Germline	Chr2:71551073	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253913	rs_121908962	8 SubmittersRCV000007066 RCV000342783 RCV001048974 RCV005237357
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	SNV Germline	Chr2:71517028	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253916	rs_121908963	8 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431 RCV006252415
NM_001130987.2(DYSF):c.1381-2A>G	SNV Germline	Chr2:71535019	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253920	rs_786200897	4 SubmittersRCV000007070 RCV003574698 RCV005430921
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	SNV Germline	Chr2:71668842	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253922	rs_786205084	7 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993 RCV006252426
NM_001130987.2(DYSF):c.5796G>A (p.Trp1932Ter)	SNV Germline	Chr2:71674208	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA49771552	rs_267599442	1 SubmittersRCV002938130
NM_001130987.2(DYSF):c.1149+1G>A	SNV Germline	Chr2:71520905	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222120	rs_398123763	8 SubmittersRCV000174082 RCV000700616 RCV000711544 RCV000763501 RCV003466976 RCV005600649
NM_001130987.2(DYSF):c.1380+2T>C	SNV Germline	Chr2:71528403	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222122	rs_398123765	6 SubmittersRCV000080229 RCV000174526 RCV003574709 RCV003466978 RCV005867871
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)	SNV Germline	Chr2:71535282	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222125	rs_202044973	10 SubmittersRCV000080232 RCV000174882 RCV000698361 RCV003466979 RCV005025135 RCV006445495
NM_001130987.2(DYSF):c.1494-1G>A	SNV Germline	Chr2:71539156	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222128	rs_398123768	4 SubmittersRCV000175043 RCV000790756 RCV003574710 RCV006249585
NM_003494.4(DYSF):c.1481-1G>A	SNV Germline	Chr2:71549349	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222130	rs_398123770	9 SubmittersRCV000175175 RCV000711548 RCV002477229 RCV002514411 RCV003460748 RCV006252431
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	SNV Germline	Chr2:71551631	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222133	rs_377735262	14 SubmittersRCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502 RCV005031566 RCV004998208
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)	SNV Germline	Chr2:71553148	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA147730	rs_115849497	8 SubmittersRCV000080246 RCV000544595 RCV001274450
NM_001130987.2(DYSF):c.2217-11G>A	SNV Germline	Chr2:71561741	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA222136	rs_200853014	4 SubmittersRCV000080248 RCV000723542 RCV001140666
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)	SNV Germline	Chr2:71561900	Pathogenic	Condition: not provided Distal myopathy with anterior tibial onset Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA222137	rs_398123773	6 SubmittersRCV000176393 RCV001089587 RCV001390522 RCV003466982 RCV005025136
NM_001130987.2(DYSF):c.2697+1G>A	SNV Germline	Chr2:71568083	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset DYSF-related disorder Autosomal recessive limb-girdle muscular dystrophy Clear cell carcinoma of kidney Papillary renal cell carcinoma type 1	Reviewed By Expert Panel	CA222141	rs_140108514	16 SubmittersRCV000080255 RCV000176550 RCV000233433 RCV000697172 RCV000763504 RCV003415848 RCV004998211 RCV005886431 RCV005886430
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)	SNV Germline	Chr2:71568180	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA222142	rs_398123775	3 SubmittersRCV000080256 RCV000668890 RCV002055161
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)	SNV Germline	Chr2:71569878	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222144	rs_398123776	2 SubmittersRCV000356683 RCV001854415
NM_001130987.2(DYSF):c.3086-17G>T	SNV Germline	Chr2:71570582	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA222149	rs_3764971	3 SubmittersRCV000080263 RCV000667521 RCV002515772
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)	SNV Germline	Chr2:71570627	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA222150	rs_398123778	5 SubmittersRCV000080264 RCV000666317 RCV001084847
NM_001130987.2(DYSF):c.346-17C>T	SNV Germline	Chr2:71511790	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA222155	rs_370498369	2 SubmittersRCV000080270 RCV002055163
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)	SNV Germline	Chr2:71612726	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA222164	rs_398123787	12 SubmittersRCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797 RCV005025137
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)	SNV Germline	Chr2:71511892	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA222166	rs_139654844	7 SubmittersRCV000080288 RCV000647983 RCV001276718 RCV004019553
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)	SNV Germline	Chr2:71643993	Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222170	rs_398123788	6 SubmittersRCV000080290 RCV001854416 RCV003460752 RCV005614381 RCV005600652
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)	SNV Germline	Chr2:71658970	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA147764	rs_62145939	11 SubmittersRCV000080294 RCV000538106 RCV001271545 RCV001795106
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)	SNV Germline	Chr2:71658995	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222174	rs_398123789	13 SubmittersRCV000178524 RCV000790739 RCV000794872 RCV003466985 RCV005409617 RCV005600653
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	SNV Germline	Chr2:71659033	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 DYSF-related disorder Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222176	rs_141704244	12 SubmittersRCV000080297 RCV000548178 RCV001271548 RCV003466986 RCV004549503 RCV005025138 RCV005406809
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)	SNV Germline	Chr2:71660641	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA222178	rs_147056383	12 SubmittersRCV000080298 RCV000669830 RCV000864868 RCV001086563 RCV003952509
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)	SNV Germline	Chr2:71513768	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA222182	rs_398123791	4 SubmittersRCV000080301 RCV001086592 RCV001826719 RCV003894938
NM_001130987.2(DYSF):c.5458-2A>C	SNV Germline	Chr2:71668752	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222184	rs_398123792	2 SubmittersRCV000395191 RCV001201873
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)	SNV Germline	Chr2:71669179	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222188	rs_201592500	2 SubmittersRCV000178687 RCV003574712
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)	SNV Germline	Chr2:71669191	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset DYSF-related disorder Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222190	rs_398123794	10 SubmittersRCV000178688 RCV000790680 RCV001384247 RCV003466987 RCV005031568 RCV005867872 RCV006252435
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)	SNV Germline	Chr2:71669723	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222193	rs_398123795	2 SubmittersRCV000340623 RCV003764760
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)	SNV Germline	Chr2:71513868	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA222201	rs_373585652	11 SubmittersRCV000179424 RCV000693273 RCV000711569 RCV003114244 RCV003474680
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)	SNV Germline	Chr2:71682612	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA222205	rs_150834671	8 SubmittersRCV000543402 RCV000725370 RCV001449586 RCV001276874
NM_001130987.2(DYSF):c.759+1G>C	SNV Germline	Chr2:71513922	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222207	rs_398123800	5 SubmittersRCV000179423 RCV000790678 RCV001386483 RCV002498413 RCV003474681
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	SNV Germline	Chr2:71515714	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA222210	rs_398123802	10 SubmittersRCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)	SNV Germline	Chr2:71516990	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222220	rs_398123807	6 SubmittersRCV000080333 RCV000696449 RCV001831823 RCV003330426
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)	SNV Germline	Chr2:71516998	Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222222	rs_398123808	4 SubmittersRCV000080334 RCV003236666 RCV003460754 RCV005600655
NM_001130987.2(DYSF):c.1033+1G>A	SNV Germline	Chr2:71520209	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222224	rs_201869739	9 SubmittersRCV000173782 RCV000262780 RCV000801493 RCV001810422 RCV003466991 RCV006445498
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)	SNV Germline	Chr2:71574310	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA152663	rs_59915619	8 SubmittersRCV000116927 RCV001086595 RCV001826784
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)	SNV Germline	Chr2:71612796	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Cervical cancer Gastric cancer Thyroid cancer, nonmedullary, 1 Thymoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA152667	rs_76576806	9 SubmittersRCV000116929 RCV000711561 RCV001080539 RCV001271538 RCV005888065 RCV005888066 RCV005888068 RCV005888067 RCV005888064
NM_001130987.2(DYSF):c.3756+9G>T	SNV Germline	Chr2:71598754	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided DYSF-related disorder	Criteria Provided Conflicting Classifications	CA175985	rs_191746041	9 SubmittersRCV000150588 RCV000528464 RCV001711418 RCV003975173
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)	SNV Germline	Chr2:71513767	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA179983	rs_34999029	4 SubmittersRCV000153173 RCV001140455 RCV005632263
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)	SNV Germline	Chr2:71667441	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA233939	rs_727503912	4 SubmittersRCV000153184 RCV001857527 RCV003462059
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	SNV Germline	Chr2:71600831	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy DYSF-related disorder	Reviewed By Expert Panel	CA233937	rs_727503911	14 SubmittersRCV000323235 RCV000984259 RCV000809801 RCV003467211 RCV002492572 RCV005252773 RCV003917498
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)	SNV Germline	Chr2:71520889	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA233928	rs_571559303	7 SubmittersRCV000153174 RCV000878829 RCV001826823 RCV003422044
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)	SNV Germline	Chr2:71561869	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA179985	rs_116204385	7 SubmittersRCV000153175 RCV000876464 RCV001704108 RCV001831950
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)	SNV Germline	Chr2:71568318	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA233931	rs_727503910	8 SubmittersRCV000153178 RCV000668306 RCV003329115 RCV003462058 RCV005055626
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)	SNV Germline	Chr2:71574236	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA233933	rs_150355624	4 SubmittersRCV000249417 RCV000723785 RCV001086229 RCV001272827
NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=)	SNV Germline	Chr2:71667509	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA233941	rs_727503913	2 SubmittersRCV000153185 RCV001438751
NM_001130987.2(DYSF):c.5458-17G>A	SNV Germline	Chr2:71668737	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA233943	rs_147638721	2 SubmittersRCV000153186 RCV002056031
NM_001130987.2(DYSF):c.5642+1G>A	SNV Germline	Chr2:71669208	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA233946	rs_727503915	5 SubmittersRCV000407918 RCV000648019 RCV002469027 RCV003467212 RCV005025232
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	SNV Germline	Chr2:71553110	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Reviewed By Expert Panel	CA241938	rs_201049092	9 SubmittersRCV000176067 RCV000675177 RCV001852168 RCV003468857 RCV003235095 RCV005025280
NM_001130987.2(DYSF):c.1985-4C>G	SNV Germline	Chr2:71553803	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA242073	rs_374489513	4 SubmittersRCV000176196 RCV001080312 RCV001271784
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)	SNV Germline	Chr2:71561870	Conflicting classifications of pathogenicity	Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA242326	rs_138654170	7 SubmittersRCV000176395 RCV000765697 RCV001085145 RCV001271790
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)	SNV Germline	Chr2:71568199	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242686	rs_201622087	6 SubmittersRCV000176653 RCV000553449 RCV001267331
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	SNV Germline	Chr2:71569911	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 DYSF-related disorder not specified	Criteria Provided Conflicting Classifications	CA242772	rs_144636654	14 SubmittersRCV000725533 RCV001079396 RCV001272822 RCV001810433 RCV001449649 RCV004552986 RCV006452486
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)	SNV Germline	Chr2:71570608	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA275155	rs_756328339	8 SubmittersRCV000176934 RCV000724183 RCV001050002 RCV001804906 RCV003468860
NM_001130987.2(DYSF):c.3086-9C>T	SNV Germline	Chr2:71570590	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA243042	rs_185350547	5 SubmittersRCV000176935 RCV000725375 RCV001086193
NM_001130987.2(DYSF):c.3229-5T>C	SNV Germline	Chr2:71574193	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA243639	rs_794727532	2 SubmittersRCV000177450 RCV001503854
NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)	SNV Germline	Chr2:71574272	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA202484	rs_201477760	4 SubmittersRCV000177463 RCV000539475
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter)	SNV Germline	Chr2:71574253	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA275194	rs_794727534	2 SubmittersRCV000177464 RCV001852191
NM_001130987.2(DYSF):c.3403-2A>G	SNV Germline	Chr2:71589591	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Acute myeloid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA275204	rs_370874727	6 SubmittersRCV000277199 RCV000701150 RCV000984258 RCV003468863 RCV004800315 RCV005889935
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)	SNV Germline	Chr2:71600759	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Inborn genetic diseases DYSF-related disorder	Criteria Provided Conflicting Classifications	CA244680	rs_146970014	9 SubmittersRCV000177777 RCV000656846 RCV001084687 RCV001336578 RCV002516753 RCV003937609
NM_001130987.2(DYSF):c.3957+9G>A	SNV Germline	Chr2:71602814	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA244830	rs_794727590	2 SubmittersRCV000177874 RCV002516757
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)	SNV Germline	Chr2:71612673	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B not specified	Criteria Provided Conflicting Classifications	CA244985	rs_142769942	6 SubmittersRCV000177975 RCV001084664 RCV001274833 RCV001640271
NM_001130987.2(DYSF):c.246G>A (p.Leu82=)	SNV Germline	Chr2:71503220	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA245222	rs_756463088	3 SubmittersRCV000178192 RCV000810796 RCV001832021
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)	SNV Germline	Chr2:71503253	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA245224	rs_138870937	3 SubmittersRCV000178193 RCV001436730
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)	SNV Germline	Chr2:71503242	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA275254	rs_794727636	8 SubmittersRCV000178195 RCV000724670 RCV001040341 RCV003462284 RCV005600802
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	SNV Germline	Chr2:71643988	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA275268	rs_766016391	10 SubmittersRCV000178461 RCV000527540 RCV000724391 RCV002485170 RCV003468866
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)	SNV Germline	Chr2:71664274	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA245726	rs_151276652	4 SubmittersRCV000178575 RCV001079331 RCV001835707
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)	SNV Germline	Chr2:71667447	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245812	rs_370866476	4 SubmittersRCV000178627 RCV000813699 RCV001826908 RCV003165373
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)	SNV Germline	Chr2:71682530	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases DYSF-related disorder	Criteria Provided Conflicting Classifications	CA246386	rs_143762717	12 SubmittersRCV000724811 RCV001080306 RCV001276873 RCV003243003 RCV003977471
NM_001130987.2(DYSF):c.760-8G>C	SNV Germline	Chr2:71515615	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA247122	rs_748159785	5 SubmittersRCV000179814 RCV001079092 RCV003895202
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)	SNV Germline	Chr2:71515749	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA275391	rs_794727851	4 SubmittersRCV000179815 RCV000724796 RCV004567382 RCV006555559
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	SNV Germline	Chr2:71515666	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA247174	rs_150917600	7 SubmittersRCV000656845 RCV000706741 RCV001276722 RCV001336579
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)	SNV Germline	Chr2:71515660	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA275400	rs_141497053	7 SubmittersRCV000179859 RCV000984257 RCV002265663 RCV001852238 RCV003468872 RCV005025287
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)	SNV Germline	Chr2:71515640	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA203476	rs_138054675	6 SubmittersRCV000179860 RCV000543185 RCV003422075
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)	SNV Germline	Chr2:71589667	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA208352	rs_576460368	4 SubmittersRCV000194280 RCV000664777 RCV001462615 RCV003895245
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)	SNV Germline	Chr2:71665182	Pathogenic/Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA351294	rs_779987458	3 SubmittersRCV000648020 RCV000672247 RCV003469178
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)	SNV Germline	Chr2:71553092	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA277606	rs_746873768	11 SubmittersRCV000201076 RCV000255415 RCV000531181 RCV000763503 RCV003468914 RCV005864462
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)	SNV Germline	Chr2:71570679	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Abnormality of the musculature Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA277609	rs_369607332	14 SubmittersRCV000201098 RCV000255805 RCV000526163 RCV001814110 RCV003462352 RCV005893611
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	SNV Germline	Chr2:71665181	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Reviewed By Expert Panel	CA279083	rs_863225021	11 SubmittersRCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915 RCV005031752
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	SNV Germline	Chr2:71570680	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1706448	rs_150877497	19 SubmittersRCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174 RCV005031823 RCV005252832
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)	SNV Germline	Chr2:71511839	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705341	rs_377056951	4 SubmittersRCV000242037 RCV000725503 RCV001087267 RCV001276717
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)	SNV Germline	Chr2:71513852	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705418	rs_376293526	6 SubmittersRCV000247945 RCV000725510 RCV001082722 RCV001273969
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)	SNV Germline	Chr2:71515635	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705456	rs_150345121	6 SubmittersRCV000249294 RCV000532146 RCV000733997 RCV001833275
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)	SNV Germline	Chr2:71553838	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706027	rs_199565036	4 SubmittersRCV000246296 RCV000665737 RCV000966654
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)	SNV Germline	Chr2:71553929	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706042	rs_74423119	9 SubmittersRCV000251223 RCV000513999 RCV001081560 RCV001828138 RCV002519917
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)	SNV Germline	Chr2:71568007	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706238	rs_191337920	7 SubmittersRCV000251826 RCV000726086 RCV001086817 RCV001271794
NM_001130987.2(DYSF):c.2980-15C>T	SNV Germline	Chr2:71570214	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1706360	rs_148732505	4 SubmittersRCV000252169 RCV001137792 RCV001753721
NM_001130987.2(DYSF):c.3403-10G>A	SNV Germline	Chr2:71589583	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706549	rs_116733194	6 SubmittersRCV000249764 RCV000725483 RCV001272830 RCV001082993
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)	SNV Germline	Chr2:71600797	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706726	rs_139983909	6 SubmittersRCV000247034 RCV000725763 RCV001087720 RCV001272838
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)	SNV Germline	Chr2:71643979	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707050	rs_148055736	5 SubmittersRCV000244684 RCV000725538 RCV001080585 RCV001271542
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)	SNV Germline	Chr2:71503308	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10588346	rs_746315830	9 SubmittersRCV000254734 RCV001004980 RCV001089583 RCV001855002 RCV005025407 RCV006252444
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	SNV Germline	Chr2:71526295	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1705654	rs_758180890	8 SubmittersRCV000255632 RCV000817143 RCV000763502 RCV003993912 RCV003463719 RCV004547650
NM_001130987.2(DYSF):c.1693-6T>A	SNV Germline	Chr2:71551601	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10588347	rs_886039573	8 SubmittersRCV000254712 RCV000597734 RCV001381504 RCV003463720 RCV006252445
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)	SNV Germline	Chr2:71611483	Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Reviewed By Expert Panel	CA1706889	rs_199870606	8 SubmittersRCV000408314 RCV000802767 RCV003469216 RCV005252849 RCV005025412
NM_001130987.2(DYSF):c.5174+5G>T	SNV Germline	Chr2:71664443	Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10603780	rs_745891180	3 SubmittersRCV000292755 RCV003232988 RCV006252446
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)	SNV Germline	Chr2:71590246	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA10603799	rs_886042091	7 SubmittersRCV000518638 RCV001247365 RCV001828174 RCV003469217 RCV005031849
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)	SNV Germline	Chr2:71528393	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603801	rs_886042093	3 SubmittersRCV000379326 RCV001244501 RCV004800370
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)	SNV Germline	Chr2:71668799	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707403	rs_139879284	8 SubmittersRCV000725163 RCV001085921 RCV001276862 RCV004021072 RCV003939934
NM_001130987.2(DYSF):c.5003+1249G>T	SNV Germline	Chr2:71661900	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10603819	rs_886042110	6 SubmittersRCV000353624 RCV000591407 RCV001855080 RCV003469219 RCV005031850 RCV005600888
NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=)	SNV Germline	Chr2:71665291	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707313	rs_748704263	2 SubmittersRCV000300278 RCV001470548
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)	SNV Germline	Chr2:71665253	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707306	rs_148541407	8 SubmittersRCV000302512 RCV000547122 RCV001274105 RCV001531488
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)	SNV Germline	Chr2:71590255	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706621	rs_139194093	8 SubmittersRCV000382528 RCV000648004 RCV001272831 RCV003243035
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)	SNV Germline	Chr2:71682536	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707641	rs_147263499	8 SubmittersRCV000315999 RCV000540445 RCV001081387 RCV001449592 RCV001833308
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)	SNV Germline	Chr2:71570624	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706430	rs_143475751	6 SubmittersRCV000280424 RCV000648035 RCV001091458 RCV001276436
NM_001130987.2(DYSF):c.1276+5G>C	SNV Germline	Chr2:71526351	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA10604017	rs_766433603	7 SubmittersRCV000311902 RCV001059832 RCV005407007 RCV005025417 RCV005614397
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)	SNV Germline	Chr2:71535087	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B not specified	Criteria Provided Conflicting Classifications	CA1705737	rs_141818764	12 SubmittersRCV000711546 RCV001084088 RCV001449924 RCV001276725 RCV001820812
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)	SNV Germline	Chr2:71669708	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707485	rs_762258343	3 SubmittersRCV000317613 RCV000754725 RCV002521880
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)	SNV Germline	Chr2:71526334	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA10604166	rs_886042389	6 SubmittersRCV000292426 RCV000725084 RCV001070518 RCV003317179 RCV003469225
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)	SNV Germline	Chr2:71611324	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706844	rs_201476613	8 SubmittersRCV000340111 RCV001086001 RCV001820813 RCV001835749
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)	SNV Germline	Chr2:71570682	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706450	rs_760443264	8 SubmittersRCV000351237 RCV000665378 RCV001297834 RCV003469226 RCV004751419
NM_001130987.2(DYSF):c.4911+1G>T	SNV Germline	Chr2:71659034	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA1707169	rs_777216777	2 SubmittersRCV000397485 RCV001223491
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)	SNV Germline	Chr2:71667478	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1707357	rs_148860301	10 SubmittersRCV000266653 RCV000725114 RCV000757894 RCV001141002 RCV001810440 RCV003463743
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)	SNV Germline	Chr2:71643997	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707053	rs_544993852	6 SubmittersRCV000356459 RCV000542418 RCV001833323 RCV003977746
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)	SNV Germline	Chr2:71517015	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705538	rs_112007817	5 SubmittersRCV000328096 RCV001085447 RCV001273973 RCV003955443
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)	SNV Germline	Chr2:71589599	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706555	rs_144634077	4 SubmittersRCV000284503 RCV000648010
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)	SNV Germline	Chr2:71570251	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706371	rs_34061568	8 SubmittersRCV000725139 RCV001084284 RCV001272823 RCV003920053
NM_001130987.2(DYSF):c.2409+1G>A	SNV Germline	Chr2:71561945	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604289	rs_151317754	6 SubmittersRCV000261362 RCV000349131 RCV001379694 RCV003463745 RCV005632351
NM_001130987.2(DYSF):c.1167C>T (p.Pro389=)	SNV Germline	Chr2:71526237	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10604307	rs_886042490	2 SubmittersRCV000283141 RCV002518861
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)	SNV Germline	Chr2:71665263	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA1707309	rs_147678255	10 SubmittersRCV000689268 RCV000711566 RCV001274852 RCV003278732 RCV005895589
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)	SNV Germline	Chr2:71590212	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA1706606	rs_758944159	3 SubmittersRCV000385716 RCV000407800
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)	SNV Germline	Chr2:71556002	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Cervical cancer	Criteria Provided Conflicting Classifications	CA1706065	rs_145007061	7 SubmittersRCV000725234 RCV001087666 RCV001271785 RCV005895592
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)	SNV Germline	Chr2:71535299	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705768	rs_199879861	6 SubmittersRCV000330051 RCV000525084 RCV001274442
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr2:71551676	Pathogenic/Likely pathogenic	Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10604502	rs_886042633	3 SubmittersRCV000259897 RCV001727667 RCV001859579
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)	SNV Germline	Chr2:71644013	Pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10604504	rs_886042635	4 SubmittersRCV000299421 RCV001815304 RCV003765605
NM_001130987.2(DYSF):c.5785-7G>A	SNV Germline	Chr2:71674190	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA1707510	rs_753861836	11 SubmittersRCV000331428 RCV000485381 RCV001058932 RCV001788187 RCV003469228
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)	SNV Germline	Chr2:71553833	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706026	rs_538170367	4 SubmittersRCV000348203 RCV001466761 RCV001823130 RCV004619239
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)	SNV Germline	Chr2:71590266	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706624	rs_201319864	5 SubmittersRCV000262877 RCV001088632 RCV001272832 RCV003920065
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)	SNV Germline	Chr2:71481890	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA10604511	rs_886042641	5 SubmittersRCV000323798 RCV000695592 RCV000984260
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)	SNV Germline	Chr2:71612774	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706972	rs_139411595	6 SubmittersRCV000278721 RCV000792442 RCV001274838 RCV002518888 RCV003909953
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)	SNV Germline	Chr2:71515717	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705480	rs_140002194	10 SubmittersRCV000488274 RCV001142308 RCV001828197 RCV002518899 RCV002494838
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)	SNV Germline	Chr2:71564125	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA1706183	rs_35297901	10 SubmittersRCV000356959 RCV000695150 RCV001271793 RCV002487214 RCV005863084 RCV005895631
NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=)	SNV Germline	Chr2:71682605	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10604648	rs_886042758	2 SubmittersRCV000386316 RCV001462470
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)	SNV Germline	Chr2:71570626	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706432	rs_764931697	7 SubmittersRCV000313635 RCV000701610 RCV000666376 RCV002494839
NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=)	SNV Germline	Chr2:71667419	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707343	rs_140812535	2 SubmittersRCV000275091 RCV002059147
NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg)	SNV Germline	Chr2:71600808	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10604735	rs_886042828	2 SubmittersRCV000316493 RCV001855139
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	SNV Germline	Chr2:71569884	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1706331	rs_202218890	14 SubmittersRCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231 RCV006445646
NM_001130987.2(DYSF):c.1577-1699C>T	SNV Germline	Chr2:71549342	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705835	rs_183489578	3 SubmittersRCV000349882 RCV001087804 RCV001276728
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)	SNV Germline	Chr2:71481940	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10604804	rs_886042878	6 SubmittersRCV000596973 RCV000725459 RCV003736685 RCV006252447
NM_001130987.2(DYSF):c.5458-1G>A	SNV Germline	Chr2:71668753	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604805	rs_886042879	4 SubmittersRCV000591549 RCV001376862 RCV003463754
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)	SNV Germline	Chr2:71669200	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA10604806	rs_886042880	5 SubmittersRCV000265900 RCV001859602 RCV003401247 RCV006263826
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)	SNV Germline	Chr2:71528332	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705699	rs_148697028	6 SubmittersRCV000406958 RCV000543795 RCV001731560 RCV001828203
NM_001130987.2(DYSF):c.254C>T (p.Ala85Val)	SNV Germline	Chr2:71503228	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705297	rs_772008300	3 SubmittersRCV000293243 RCV002519155
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)	SNV Germline	Chr2:71568053	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706245	rs_200049922	8 SubmittersRCV000416052 RCV000531939 RCV001271795
NM_001130987.2(DYSF):c.1450-6C>T	SNV Germline	Chr2:71535262	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705763	rs_757776087	2 SubmittersRCV000302558 RCV001461758
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)	SNV Germline	Chr2:71515716	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1705479	rs_149827237	12 SubmittersRCV000595594 RCV001379021 RCV001254624 RCV002502122 RCV003469232 RCV006252448
NM_001130987.2(DYSF):c.3085+2T>C	SNV Germline	Chr2:71570336	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10604913	rs_886042951	7 SubmittersRCV000280615 RCV001037309 RCV001828208 RCV003469233 RCV006252449
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)	SNV Germline	Chr2:71481936	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1705253	rs_114986640	5 SubmittersRCV000284030 RCV000544371 RCV001283516
NM_001130987.2(DYSF):c.2864+8G>A	SNV Germline	Chr2:71568346	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706300	rs_371686795	4 SubmittersRCV000308748 RCV001086799 RCV001271798 RCV003939998
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)	SNV Germline	Chr2:71674286	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1707524	rs_750860886	6 SubmittersRCV000262181 RCV000648008 RCV001276869 RCV004619242
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)	SNV Germline	Chr2:71598667	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706662	rs_148858485	7 SubmittersRCV000274574 RCV000725546 RCV001083505 RCV001276446 RCV001509578
NM_001130987.2(DYSF):c.888+2T>A	SNV Germline	Chr2:71515753	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10604937	rs_886042970	3 SubmittersRCV000352399 RCV003765624
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)	SNV Germline	Chr2:71526299	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705655	rs_746610724	5 SubmittersRCV000264809 RCV001241483 RCV001828209 RCV002521928
NM_001130987.2(DYSF):c.4222-8C>T	SNV Germline	Chr2:71612633	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706932	rs_772066982	2 SubmittersRCV000319197 RCV001080903
NM_001130987.2(DYSF):c.397C>T (p.Leu133=)	SNV Germline	Chr2:71511858	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10604985	rs_886043009	2 SubmittersRCV000283972 RCV000541561
NM_001130987.2(DYSF):c.6174-8G>A	SNV Germline	Chr2:71682522	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707636	rs_777167646	3 SubmittersRCV000310275 RCV000725581 RCV001088913
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)	SNV Germline	Chr2:71535047	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705732	rs_150093305	4 SubmittersRCV000259934 RCV000725584 RCV001089239 RCV001274441
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)	SNV Germline	Chr2:71598667	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706663	rs_148858485	8 SubmittersRCV000725593 RCV001081328 RCV001272833
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)	SNV Germline	Chr2:71681110	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10605008	rs_886042452	2 SubmittersRCV000304230 RCV000811495
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)	SNV Germline	Chr2:71667482	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707358	rs_137855767	3 SubmittersRCV000289625 RCV001088815 RCV001274107
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)	SNV Germline	Chr2:71513721	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705380	rs_200970855	6 SubmittersRCV000301411 RCV001082288 RCV001833344
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)	SNV Germline	Chr2:71612701	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1706954	rs_769721856	6 SubmittersRCV000272470 RCV000984261 RCV001382219 RCV005025423 RCV005864467
NM_001130987.2(DYSF):c.1371G>C (p.Ala457=)	SNV Germline	Chr2:71528392	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705710	rs_140667960	2 SubmittersRCV000336901 RCV001489194
NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser)	SNV Germline	Chr2:71620556	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707026	rs_766512164	3 SubmittersRCV000725599 RCV001495704
NM_001130987.2(DYSF):c.1577-1G>A	SNV Germline	Chr2:71551040	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA1705868	rs_189923208	2 SubmittersRCV000317735 RCV000809637
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)	SNV Germline	Chr2:71570638	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706435	rs_372880553	7 SubmittersRCV000310622 RCV000803161 RCV001833347 RCV003463758
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)	SNV Germline	Chr2:71660631	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707204	rs_142301132	6 SubmittersRCV000260045 RCV001088177 RCV001274850 RCV003940005
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)	SNV Germline	Chr2:71644034	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1707060	rs_150139276	9 SubmittersRCV000530924 RCV000664797 RCV000725642 RCV003235177
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)	SNV Germline	Chr2:71612772	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10605167	rs_886043145	5 SubmittersRCV000556431 RCV000597200 RCV002494847 RCV003463761
NM_001130987.2(DYSF):c.3757-2A>G	SNV Germline	Chr2:71600700	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10605171	rs_886043149	2 SubmittersRCV000273343 RCV006462334
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)	SNV Germline	Chr2:71503290	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705310	rs_374934430	3 SubmittersRCV000377708 RCV001481283
NM_001130987.2(DYSF):c.5004-1G>A	SNV Germline	Chr2:71664267	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10605197	rs_886043170	3 SubmittersRCV000367315 RCV005031860 RCV006462335
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)	SNV Germline	Chr2:71667391	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset DYSF-related disorder Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA1707338	rs_145272777	10 SubmittersRCV000374736 RCV000664874 RCV000778917 RCV001329706 RCV001563739 RCV003940011 RCV005355595
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)	SNV Germline	Chr2:71658902	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707143	rs_149768871	7 SubmittersRCV000306735 RCV001055238 RCV002519192 RCV001833354
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)	SNV Germline	Chr2:71664358	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707241	rs_149087116	5 SubmittersRCV000356086 RCV001081951 RCV001274103
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)	SNV Germline	Chr2:71539161	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1705795	rs_185119682	7 SubmittersRCV000335981 RCV000535143 RCV001274443 RCV002480026
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)	SNV Germline	Chr2:71520183	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705569	rs_146687581	5 SubmittersRCV000321068 RCV001084085
NM_001130987.2(DYSF):c.4756-3C>T	SNV Germline	Chr2:71658875	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707142	rs_371227553	7 SubmittersRCV000334866 RCV000529091 RCV001083939 RCV001833355 RCV003947911
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	SNV Germline	Chr2:71667477	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1707356	rs_746243052	14 SubmittersRCV000294536 RCV000725796 RCV000817667 RCV003469237 RCV005025425 RCV003114448
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)	SNV Germline	Chr2:71553926	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706039	rs_148652047	7 SubmittersRCV000329065 RCV000559041 RCV000725802 RCV004021194
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)	SNV Germline	Chr2:71611553	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706904	rs_149182447	4 SubmittersRCV000331066 RCV000820404 RCV001828229 RCV005821677
NM_001130987.2(DYSF):c.432G>T (p.Pro144=)	SNV Germline	Chr2:71511893	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705350	rs_542176164	2 SubmittersRCV000308273 RCV001447475
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)	SNV Germline	Chr2:71668774	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707398	rs_145143725	5 SubmittersRCV000311115 RCV000648047 RCV003949878
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)	SNV Germline	Chr2:71553148	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705986	rs_115849497	4 SubmittersRCV000382853 RCV000725847 RCV001078656 RCV001271783
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)	SNV Germline	Chr2:71570688	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706454	rs_144598063	12 SubmittersRCV000361984 RCV000665677 RCV000693473 RCV003401254 RCV005025426
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)	SNV Germline	Chr2:71513790	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705397	rs_143562525	6 SubmittersRCV000342489 RCV000793369 RCV001273965
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)	SNV Germline	Chr2:71611255	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706829	rs_116426399	8 SubmittersRCV000291125 RCV000526675 RCV001085337 RCV003967764 RCV004975396
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)	SNV Germline	Chr2:71556003	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706066	rs_201239189	4 SubmittersRCV000392895 RCV001088299 RCV001563802 RCV001563803 RCV001271786
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)	SNV Germline	Chr2:71574312	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706529	rs_147483765	4 SubmittersRCV000383544 RCV001085324 RCV001276442
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)	SNV Germline	Chr2:71517027	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705539	rs_140809078	4 SubmittersRCV000726069 RCV001086161 RCV001833377
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)	SNV Germline	Chr2:71611548	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1706903	rs_145412880	8 SubmittersRCV001086923 RCV003957489 RCV000710131
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	SNV Germline	Chr2:71681053	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Primary dilated cardiomyopathy DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707599	rs_115407852	14 SubmittersRCV000356385 RCV000487973 RCV000675073 RCV001085395 RCV001449928 RCV003448906 RCV004549599
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)	SNV Germline	Chr2:71520794	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705596	rs_745746091	4 SubmittersRCV000329171 RCV001247468 RCV001833378
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr2:71526325	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B not specified	Criteria Provided Conflicting Classifications	CA1705660	rs_527435707	8 SubmittersRCV000726094 RCV001139795 RCV001833380 RCV003155152
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)	SNV Germline	Chr2:71561937	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi myopathy Distal myopathy with anterior tibial onset Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706139	rs_147139414	6 SubmittersRCV000385438 RCV000525552 RCV001535516
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)	SNV Germline	Chr2:71659033	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707168	rs_141704244	6 SubmittersRCV000387010 RCV001241552 RCV001828247
NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)	SNV Germline	Chr2:71682670	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10605966	rs_886043805	2 SubmittersRCV000282124 RCV001039650
NM_001130987.2(DYSF):c.1149+4A>G	SNV Germline	Chr2:71520908	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1705618	rs_761302882	4 SubmittersRCV000311787 RCV001855200 RCV005409647 RCV005864470
NM_001130987.2(DYSF):c.1167C>G (p.Pro389=)	SNV Germline	Chr2:71526237	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10605976	rs_886042490	2 SubmittersRCV000325322 RCV002059233
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)	SNV Germline	Chr2:71520871	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA10605994	rs_766891289	7 SubmittersRCV000336319 RCV001067684 RCV001823131 RCV005409648 RCV004800374
NM_001130987.2(DYSF):c.135T>C (p.Pro45=)	SNV Germline	Chr2:71480926	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606030	rs_886043852	2 SubmittersRCV000392352 RCV002059234
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)	SNV Germline	Chr2:71561905	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606035	rs_553605812	4 SubmittersRCV000726140 RCV001271791 RCV000384090 RCV001396652
NM_001130987.2(DYSF):c.4830C>T (p.Ala1610=)	SNV Germline	Chr2:71658952	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707153	rs_375485030	3 SubmittersRCV000337609 RCV001086983
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	SNV Germline	Chr2:71520904	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705617	rs_199955501	9 SubmittersRCV000402278 RCV000726161 RCV000665200 RCV001080526 RCV001449952 RCV003897632
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)	SNV Germline	Chr2:71681037	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707595	rs_201890095	5 SubmittersRCV000310459 RCV001087591
NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=)	SNV Germline	Chr2:71612790	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606087	rs_886043896	2 SubmittersRCV000355881 RCV002518037
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)	SNV Germline	Chr2:71553119	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606091	rs_886043900	8 SubmittersRCV000597376 RCV000726165 RCV001214514 RCV003469244 RCV005600893
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)	SNV Germline	Chr2:71561879	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10606093	rs_886043901	3 SubmittersRCV000592091 RCV005090385
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)	SNV Germline	Chr2:71511839	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705342	rs_377056951	4 SubmittersRCV000292028 RCV001087400 RCV003940055
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)	SNV Germline	Chr2:71659026	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707164	rs_772664716	6 SubmittersRCV000647992 RCV000726189 RCV001271547
NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=)	SNV Germline	Chr2:71679106	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606158	rs_886043955	2 SubmittersRCV000406225 RCV001495071
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)	SNV Germline	Chr2:71611593	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706914	rs_774464702	3 SubmittersRCV000301701 RCV001087439 RCV003977802
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)	SNV Germline	Chr2:71612740	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706966	rs_377706756	5 SubmittersRCV000358891 RCV001140902 RCV001833383
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)	SNV Germline	Chr2:71664407	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1707253	rs_141137410	10 SubmittersRCV000388999 RCV000493108 RCV000986770 RCV001079670 RCV001526431
NM_001130987.2(DYSF):c.2865-2A>C	SNV Germline	Chr2:71569818	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606168	rs_886043964	5 SubmittersRCV000368085 RCV000594701 RCV003574727 RCV004999238
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)	SNV Germline	Chr2:71669608	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606170	rs_886043966	5 SubmittersRCV000371436 RCV003574728 RCV003469245 RCV004999239
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr)	SNV Germline	Chr2:71664414	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA10606239	rs_753279446	3 SubmittersRCV000370944 RCV002518057 RCV005025437
NM_001130987.2(DYSF):c.2070C>T (p.Ile690=)	SNV Germline	Chr2:71553892	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706034	rs_746480529	2 SubmittersRCV000381106 RCV001081408
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)	SNV Germline	Chr2:71515662	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705466	rs_750724439	7 SubmittersRCV000363052 RCV000557862 RCV001273970
NM_001130987.2(DYSF):c.432G>A (p.Pro144=)	SNV Germline	Chr2:71511893	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705349	rs_542176164	3 SubmittersRCV000387377 RCV001828264 RCV001510878
NM_001130987.2(DYSF):c.2864+5G>A	SNV Germline	Chr2:71568343	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Reviewed By Expert Panel	CA10606385	rs_886044131	6 SubmittersRCV000342909 RCV000668205 RCV004567837 RCV005864471 RCV000647998
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)	SNV Germline	Chr2:71480918	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B not specified	Criteria Provided Conflicting Classifications	CA1705230	rs_374203339	7 SubmittersRCV000536797 RCV000711545 RCV001835762 RCV005895875
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)	SNV Germline	Chr2:71556060	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706081	rs_754177085	4 SubmittersRCV001139896 RCV000322931 RCV003930171
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)	SNV Germline	Chr2:71551625	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705911	rs_767415886	4 SubmittersRCV000389310 RCV000726337 RCV001271778 RCV001850449
NM_001130987.2(DYSF):c.1276+5G>A	SNV Germline	Chr2:71526351	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Pancreatic adenocarcinoma Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1705673	rs_766433603	11 SubmittersRCV000675165 RCV000726343 RCV001048102 RCV003463775 RCV004751442 RCV005033847 RCV005895877 RCV005600895
NM_001130987.2(DYSF):c.1080C>T (p.Asp360=)	SNV Germline	Chr2:71520835	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606485	rs_886044211	2 SubmittersRCV000331214 RCV002519322
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)	SNV Germline	Chr2:71669190	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707450	rs_577921112	6 SubmittersRCV000283009 RCV000726377 RCV001084464 RCV001276865
NM_001130987.2(DYSF):c.847C>A (p.Arg283=)	SNV Germline	Chr2:71515710	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705475	rs_769180834	2 SubmittersRCV000306206 RCV003736689
NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met)	SNV Germline	Chr2:71611531	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706898	rs_760627822	3 SubmittersRCV000266054 RCV002518100
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)	SNV Germline	Chr2:71669704	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder not specified	Criteria Provided Conflicting Classifications	CA1707484	rs_769289729	6 SubmittersRCV000726394 RCV001083266 RCV003910034 RCV005434770
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)	SNV Germline	Chr2:71611511	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706892	rs_139529811	7 SubmittersRCV000726406 RCV001086957 RCV001271534 RCV003910035
NM_001130987.2(DYSF):c.3228+7C>T	SNV Germline	Chr2:71570748	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706463	rs_534331009	4 SubmittersRCV000386995 RCV001088534 RCV001272825
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)	SNV Germline	Chr2:71658996	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707161	rs_538781815	6 SubmittersRCV000287690 RCV001062505 RCV001271546 RCV002518115 RCV004549620
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)	SNV Germline	Chr2:71539181	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705798	rs_34387018	4 SubmittersRCV000335708 RCV001084714 RCV001828273
NM_001130987.2(DYSF):c.*107T>A	SNV Germline	Chr2:71686599	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA10606673	rs_11903223	5 SubmittersRCV000351649 RCV000986771 RCV001138535 RCV001723875
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)	SNV Germline	Chr2:71556014	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706069	rs_775539496	6 SubmittersRCV000304844 RCV000726444 RCV000804560 RCV001279899
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)	SNV Germline	Chr2:71660630	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1707202	rs_144383140	7 SubmittersRCV000348647 RCV001240482 RCV001833403 RCV002494891 RCV005562332
NM_001130987.2(DYSF):c.888+1G>A	SNV Germline	Chr2:71515752	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606682	rs_886044377	6 SubmittersRCV000597496 RCV000726446 RCV002518120 RCV003469247 RCV005864474
NM_001130987.2(DYSF):c.2217-1G>T	SNV Germline	Chr2:71561751	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10606685	rs_886044379	3 SubmittersRCV000382100 RCV001172377 RCV003574729
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)	SNV Germline	Chr2:71513919	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Reviewed By Expert Panel	CA10606688	rs_886044381	5 SubmittersRCV000597870 RCV002519337 RCV004999247 RCV005033853
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)	SNV Germline	Chr2:71561792	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1706110	rs_202123283	7 SubmittersRCV001082501 RCV001271788 RCV003910038 RCV004975406 RCV000726455
NM_001130987.2(DYSF):c.1668C>A (p.Pro556=)	SNV Germline	Chr2:71551132	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705881	rs_180970066	2 SubmittersRCV000337954 RCV001078664
NM_001130987.2(DYSF):c.1577-1655C>G	SNV Germline	Chr2:71549386	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606720	rs_886044410	4 SubmittersRCV000404144 RCV002518128 RCV003463777 RCV005864475
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)	SNV Germline	Chr2:71613408	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA10606721	rs_886044411	7 SubmittersRCV000306643 RCV000726457 RCV003463778 RCV003736690 RCV005025440 RCV006445657
NM_001130987.2(DYSF):c.2217-2A>G	SNV Germline	Chr2:71561750	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1706103	rs_747289205	5 SubmittersRCV000326270 RCV000726460 RCV001859714 RCV006445658
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)	SNV Germline	Chr2:71665187	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10606735	rs_886044422	4 SubmittersRCV000291296 RCV000726461 RCV001859715 RCV004567838
NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met)	SNV Germline	Chr2:71589666	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706576	rs_140058659	4 SubmittersRCV000398537 RCV002518140
NM_001130987.2(DYSF):c.759G>C (p.Gln253His)	SNV Germline	Chr2:71513921	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10606797	rs_886044472	2 SubmittersRCV000333472 RCV000812750
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)	SNV Germline	Chr2:71590215	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706609	rs_138317526	3 SubmittersRCV000348989 RCV001459031 RCV001835771
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)	SNV Germline	Chr2:71600724	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706705	rs_2303603	8 SubmittersRCV000326858 RCV000517716 RCV000710129 RCV001085630 RCV003957518
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)	SNV Germline	Chr2:71611484	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706890	rs_747583441	5 SubmittersRCV000266196 RCV001140152 RCV003380540
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)	SNV Germline	Chr2:71568329	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706296	rs_150717638	6 SubmittersRCV000380360 RCV001246606 RCV001833413 RCV002480056
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)	SNV Germline	Chr2:71553915	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706038	rs_770228554	3 SubmittersRCV000311911 RCV001139894
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)	SNV Germline	Chr2:71553856	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706029	rs_138111360	5 SubmittersRCV000726558 RCV001086499 RCV001835773
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)	SNV Germline	Chr2:71568294	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706289	rs_373328706	5 SubmittersRCV000726568 RCV001084706 RCV001271797
NM_001130987.2(DYSF):c.2892C>T (p.His964=)	SNV Germline	Chr2:71569847	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10607002	rs_886044637	2 SubmittersRCV000340463 RCV001410486
NM_001130987.2(DYSF):c.5785-8C>T	SNV Germline	Chr2:71674189	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Ovarian serous cystadenocarcinoma Acute myeloid leukemia Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707507	rs_201191038	6 SubmittersRCV001276868 RCV005895902 RCV005895901 RCV000348163 RCV001081056
NM_001130987.2(DYSF):c.2424G>T (p.Leu808=)	SNV Germline	Chr2:71564072	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706174	rs_762226707	2 SubmittersRCV000370148 RCV001083022
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)	SNV Germline	Chr2:71574266	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706509	rs_144936357	3 SubmittersRCV000323183 RCV001272828 RCV001089268
NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)	SNV Germline	Chr2:71528350	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705704	rs_143355224	6 SubmittersRCV000313593 RCV004021322 RCV001240422
NM_001130987.2(DYSF):c.6174-9C>T	SNV Germline	Chr2:71682521	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707635	rs_201070766	8 SubmittersRCV000265268 RCV000726633 RCV001276872 RCV001084824 RCV003940080
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)	SNV Germline	Chr2:71481956	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705260	rs_200957354	6 SubmittersRCV000591502 RCV000711551 RCV001080690 RCV001276713
NM_001130987.2(DYSF):c.1577-1639G>C	SNV Germline	Chr2:71549402	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705851	rs_767550929	2 SubmittersRCV001140569
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)	SNV Germline	Chr2:71553121	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705978	rs_769518034	3 SubmittersRCV000871697 RCV001271781
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)	SNV Germline	Chr2:71611314	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1706842	rs_145401010	6 SubmittersRCV000419423 RCV001080538 RCV001272842 RCV001753802
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)	SNV Germline	Chr2:71612671	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706942	rs_151268930	10 SubmittersRCV000517870 RCV000727268 RCV001083961 RCV001274832 RCV004751483 RCV005033872
NM_001130987.2(DYSF):c.*267C>G	SNV Germline	Chr2:71686759	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA10613918	rs_181677134	3 SubmittersRCV001141099 RCV001590983
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)	SNV Germline	Chr2:71513880	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705427	rs_150029218	6 SubmittersRCV000732976 RCV000553818 RCV001276721
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)	SNV Germline	Chr2:71526285	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1705651	rs_754820811	3 SubmittersRCV001137568 RCV003144228
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)	SNV Germline	Chr2:71528308	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1705696	rs_769254776	4 SubmittersRCV001139798 RCV001526418 RCV006445874
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)	SNV Germline	Chr2:71551713	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705931	rs_546679270	7 SubmittersRCV000665544 RCV000727415 RCV001080579
NM_001130987.2(DYSF):c.2409+14G>A	SNV Germline	Chr2:71561958	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1706141	rs_141170955	3 SubmittersRCV001140669 RCV001697827
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)	SNV Germline	Chr2:71589632	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706568	rs_148925399	5 SubmittersRCV000727170 RCV001140788 RCV001276443
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)	SNV Germline	Chr2:71611530	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706897	rs_773240314	3 SubmittersRCV000876243 RCV005562345
NM_001130987.2(DYSF):c.1807-10C>T	SNV Germline	Chr2:71553001	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705960	rs_749361351	2 SubmittersRCV001142423
NM_001130987.2(DYSF):c.4464+7T>C	SNV Germline	Chr2:71613417	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707013	rs_369949055	4 SubmittersRCV000876154 RCV001274841 RCV003144232
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)	SNV Germline	Chr2:71660580	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707193	rs_763309812	2 SubmittersRCV001138429
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)	SNV Germline	Chr2:71513720	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705379	rs_781732915	2 SubmittersRCV001140453
NM_001130987.2(DYSF):c.1276+13C>T	SNV Germline	Chr2:71526359	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705676	rs_373530549	2 SubmittersRCV001139797
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)	SNV Germline	Chr2:71528391	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705708	rs_146588926	4 SubmittersRCV000705827 RCV001828331 RCV005632375
NM_001130987.2(DYSF):c.1493+13T>C	SNV Germline	Chr2:71535324	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA10616101	rs_886056279	2 SubmittersRCV001140566
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)	SNV Germline	Chr2:71551698	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1705924	rs_201515915	3 SubmittersRCV001066203 RCV003144229
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)	SNV Germline	Chr2:71570674	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706444	rs_770883682	2 SubmittersRCV001140034
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)	SNV Germline	Chr2:71644045	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707061	rs_182185801	4 SubmittersRCV001138012 RCV001828334 RCV003144233
NM_001130987.2(DYSF):c.5643-12A>G	SNV Germline	Chr2:71669593	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707471	rs_375507062	2 SubmittersRCV001142847
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)	SNV Germline	Chr2:71679197	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA16604254	rs_1057521141	6 SubmittersRCV000424011 RCV000671182 RCV001861509 RCV003470383 RCV005027488
NM_001130987.2(DYSF):c.92-3T>C	SNV Germline	Chr2:71480880	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705216	rs_367833503	2 SubmittersRCV000435463 RCV001861586
NM_001130987.2(DYSF):c.3496+14C>T	SNV Germline	Chr2:71589700	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706582	rs_112034381	3 SubmittersRCV000436262 RCV001140790
NM_001130987.2(DYSF):c.5547-4C>T	SNV Germline	Chr2:71669108	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707434	rs_373098428	4 SubmittersRCV000429925 RCV000945659 RCV001082323
NM_001130987.2(DYSF):c.1985-15G>T	SNV Germline	Chr2:71553792	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706019	rs_146407633	3 SubmittersRCV000436616 RCV001139893
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)	SNV Germline	Chr2:71679173	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Multiple Submitters No Conflicts	CA16617750	rs_1064794020	6 SubmittersRCV000484686 RCV000537475 RCV000668514 RCV005027543
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)	SNV Germline	Chr2:71526343	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347213670	rs_1131691651	3 SubmittersRCV000494297 RCV003574778 RCV006252454
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)	SNV Germline	Chr2:71612672	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706944	rs_138268837	11 SubmittersRCV000494287 RCV000672486 RCV001085319 RCV001449591
NM_001130987.2(DYSF):c.231G>A (p.Gly77=)	SNV Germline	Chr2:71481962	Conflicting classifications of pathogenicity	Muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA426699550	rs_1553508988	2 SubmittersRCV000501359 RCV003736797
NM_001130987.2(DYSF):c.2864+1G>A	SNV Germline	Chr2:71568339	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Reviewed By Expert Panel	CA1706298	rs_199954546	10 SubmittersRCV000512137 RCV001217776 RCV001263253 RCV002286745 RCV005252937 RCV005027592
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)	SNV Germline	Chr2:71553016	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347218306	rs_1553543506	3 SubmittersRCV000517890 RCV001834663 RCV001382905
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)	SNV Germline	Chr2:71570703	Conflicting classifications of pathogenicity	not specified Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706459	rs_752810646	6 SubmittersRCV000518215 RCV001239622 RCV001834664 RCV003144306 RCV005549984
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)	SNV Germline	Chr2:71564157	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706191	rs_371841411	5 SubmittersRCV000523223 RCV001829489 RCV002527605 RCV004023559
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)	SNV Germline	Chr2:71590219	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706610	rs_200719174	4 SubmittersRCV000523566 RCV001142639 RCV001829492
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)	SNV Germline	Chr2:71598684	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706667	rs_150942486	8 SubmittersRCV000727399 RCV000765698 RCV001272834 RCV001485096 RCV001563734 RCV001563735
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)	SNV Germline	Chr2:71656162	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707094	rs_143895253	6 SubmittersRCV000552425 RCV000595695 RCV001507565 RCV001274843 RCV003960357
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)	SNV Germline	Chr2:71664411	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1707257	rs_138472236	3 SubmittersRCV000532679 RCV001834797 RCV004024174
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)	SNV Germline	Chr2:71481888	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347216250	rs_1553508863	1 SubmittersRCV000538326
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)	SNV Germline	Chr2:71513839	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705412	rs_201980470	3 SubmittersRCV000548747 RCV001829592 RCV005632487
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)	SNV Germline	Chr2:71561928	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706135	rs_763456750	5 SubmittersRCV000550765 RCV001274454 RCV001558981 RCV005027652
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=)	SNV Germline	Chr2:71568058	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706246	rs_530181166	3 SubmittersRCV000591270 RCV001089370
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)	SNV Germline	Chr2:71570652	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA347216998	rs_1358370392	5 SubmittersRCV000551403 RCV001272824 RCV003144341 RCV004975662
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter)	SNV Germline	Chr2:71644027	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347217983	rs_778185705	1 SubmittersRCV000552484
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)	SNV Germline	Chr2:71664410	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707255	rs_771735871	3 SubmittersRCV000554512 RCV001508442 RCV001834796
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)	SNV Germline	Chr2:71682603	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707654	rs_185617318	4 SubmittersRCV000533199 RCV001755866 RCV001834801
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)	SNV Germline	Chr2:71658914	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1707145	rs_146213322	6 SubmittersRCV000559661 RCV000732545 RCV004619331
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)	SNV Germline	Chr2:71668763	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347221697	rs_1553415109	2 SubmittersRCV000531309 RCV006447386
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)	SNV Germline	Chr2:71556022	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706074	rs_182450244	4 SubmittersRCV000547561 RCV000734858 RCV001834789 RCV002506358
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)	SNV Germline	Chr2:71660584	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1707194	rs_138357301	6 SubmittersRCV000558437 RCV000592365 RCV001271549 RCV005367398
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val)	SNV Germline	Chr2:71669643	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347223572	rs_1553416071	1 SubmittersRCV000534201
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)	SNV Germline	Chr2:71679193	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347226507	rs_1553420848	3 SubmittersRCV000578874 RCV001853842 RCV002509453
NM_001130987.2(DYSF):c.5785-824C>T	SNV Germline	Chr2:71673373	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Reviewed By Expert Panel	CA658795804	rs_1285082850	7 SubmittersRCV000594297 RCV001853996 RCV001731152 RCV003117359 RCV005409681
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)	SNV Germline	Chr2:71564158	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706192	rs_748636047	5 SubmittersRCV000596941 RCV000817716 RCV001829634
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)	SNV Germline	Chr2:71567978	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706231	rs_200487610	5 SubmittersRCV000593115 RCV000647988 RCV002532373
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)	SNV Germline	Chr2:71664324	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA347220291	rs_1553412643	5 SubmittersRCV000592288 RCV001867926
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)	SNV Germline	Chr2:71574273	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706513	rs_764208388	5 SubmittersRCV000593694 RCV001034781 RCV001276440
NM_001130987.2(DYSF):c.2175G>A (p.Ser725=)	SNV Germline	Chr2:71556030	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706075	rs_373820597	2 SubmittersRCV000593436 RCV001501865
NM_001130987.2(DYSF):c.240-6T>A	SNV Germline	Chr2:71503208	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA49747925	rs_896011451	2 SubmittersRCV000595053 RCV001501323
NM_001130987.2(DYSF):c.1033+4A>T	SNV Germline	Chr2:71520212	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified	Criteria Provided Conflicting Classifications	CA533254958	rs_1397221551	6 SubmittersRCV000594895 RCV001860168 RCV003117360
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr2:71551712	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1705929	rs_149386446	7 SubmittersRCV000598052 RCV000648023 RCV001274446 RCV001526744
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)	SNV Germline	Chr2:71665203	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707293	rs_149408006	5 SubmittersRCV000595675 RCV001243854 RCV001829645
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	SNV Germline	Chr2:71570685	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA347217064	rs_1553556116	8 SubmittersRCV000591140 RCV001376861 RCV002271535 RCV003465340 RCV003338676
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter)	SNV Germline	Chr2:71600769	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347225281	rs_1553376538	2 SubmittersRCV000594208 RCV003736833
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)	SNV Germline	Chr2:71568174	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706267	rs_149979662	3 SubmittersRCV000593326 RCV001085310 RCV001834883
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)	SNV Germline	Chr2:71613335	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706997	rs_61746816	4 SubmittersRCV000594283 RCV001082513 RCV001829647
NM_001130987.2(DYSF):c.1449+7C>T	SNV Germline	Chr2:71535096	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705742	rs_199608017	4 SubmittersRCV000592742 RCV000726939 RCV001088797 RCV004751613
NM_001130987.2(DYSF):c.1692+7C>T	SNV Germline	Chr2:71551163	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705887	rs_775395972	2 SubmittersRCV000595160 RCV001480083
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)	SNV Germline	Chr2:71570689	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706455	rs_754763074	5 SubmittersRCV000592866 RCV001563740 RCV001563742 RCV001563741 RCV001854033
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)	SNV Germline	Chr2:71528392	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705709	rs_140667960	3 SubmittersRCV000593047 RCV001087712
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)	SNV Germline	Chr2:71528302	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705694	rs_147244033	4 SubmittersRCV000593985 RCV001087072 RCV001449931 RCV003962677
NM_001130987.2(DYSF):c.2226G>A (p.Leu742=)	SNV Germline	Chr2:71561761	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA49740778	rs_145868833	2 SubmittersRCV000593403 RCV001473690
NM_001130987.2(DYSF):c.1041C>A (p.Ala347=)	SNV Germline	Chr2:71520796	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA426699980	rs_1553525671	3 SubmittersRCV000594500 RCV001503763 RCV005614426
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)	SNV Germline	Chr2:71570231	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706362	rs_142404822	7 SubmittersRCV000726965 RCV001081802 RCV001834885 RCV001449654 RCV003927915
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)	SNV Germline	Chr2:71513908	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705435	rs_147876220	4 SubmittersRCV000593233 RCV001240944 RCV001834886
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	SNV Germline	Chr2:71515657	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi myopathy Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705463	rs_143053635	7 SubmittersRCV000598072 RCV000792953 RCV001535517 RCV003403397
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)	SNV Germline	Chr2:71612713	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706959	rs_774011358	3 SubmittersRCV000596365 RCV001370590 RCV001829658
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)	SNV Germline	Chr2:71667420	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707345	rs_545645581	5 SubmittersRCV000665182 RCV000711567 RCV002531059
NM_001130987.2(DYSF):c.906G>A (p.Leu302=)	SNV Germline	Chr2:71516197	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA49761053	rs_916319528	3 SubmittersRCV000597847 RCV001426938
NM_001130987.2(DYSF):c.1577-1663G>A	SNV Germline	Chr2:71549378	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705843	rs_760021808	2 SubmittersRCV000597726 RCV001401156
NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=)	SNV Germline	Chr2:71644027	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707057	rs_778185705	2 SubmittersRCV000593138 RCV001415713
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)	SNV Germline	Chr2:71528385	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705707	rs_371593605	4 SubmittersRCV000592160 RCV000807941 RCV001276724 RCV005328327
NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)	SNV Germline	Chr2:71669185	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347223040	rs_1553415622	3 SubmittersRCV000593308 RCV003231652 RCV005601042
NM_001130987.2(DYSF):c.889-2A>G	SNV Germline	Chr2:71516178	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA49761016	rs_934428561	3 SubmittersRCV000594160 RCV001378702 RCV005027710
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)	SNV Germline	Chr2:71611540	Pathogenic	Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA1706900	rs_776472879	4 SubmittersRCV000591033 RCV002491213 RCV003574784 RCV004689806
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)	SNV Germline	Chr2:71679110	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347226323	rs_1553420738	2 SubmittersRCV000594534 RCV000798409
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)	SNV Germline	Chr2:71612680	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706946	rs_767049254	6 SubmittersRCV000658870 RCV001140901 RCV001196059 RCV006362499
NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter)	SNV Germline	Chr2:71681076	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347226846	rs_886043489	2 SubmittersRCV000592814 RCV005091572
NM_001130987.2(DYSF):c.3729G>T (p.Val1243=)	SNV Germline	Chr2:71598718	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA426702446	rs_1553375366	2 SubmittersRCV000595494 RCV002532569
NM_003494.4(DYSF):c.4C>T (p.Leu2=)	SNV Germline	Chr2:71454002	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705168	rs_772536111	4 SubmittersRCV000597186 RCV000727360 RCV001137472
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)	SNV Germline	Chr2:71658953	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707154	rs_143163327	3 SubmittersRCV000594913 RCV000797230
NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn)	SNV Germline	Chr2:71570325	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706386	rs_200943384	2 SubmittersRCV000597007 RCV002532608
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)	SNV Germline	Chr2:71513727	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705382	rs_151054827	5 SubmittersRCV000593695 RCV000818446 RCV001276719
NM_001130987.2(DYSF):c.1545G>A (p.Ser515=)	SNV Germline	Chr2:71539208	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705805	rs_755103680	2 SubmittersRCV000591273 RCV001089220
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)	SNV Germline	Chr2:71480923	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705231	rs_772240035	6 SubmittersRCV000596018 RCV000814681 RCV001829688 RCV002532670
NM_001130987.2(DYSF):c.1577-10T>C	SNV Germline	Chr2:71551031	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705866	rs_371967475	3 SubmittersRCV000600271 RCV000734646 RCV001042794
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)	SNV Germline	Chr2:71551082	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705873	rs_777489323	5 SubmittersRCV000647986 RCV000765696 RCV001662702 RCV001835043
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)	SNV Germline	Chr2:71551651	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705916	rs_370872013	2 SubmittersRCV000735135 RCV001079983
NM_001130987.2(DYSF):c.5317+1G>A	SNV Germline	Chr2:71665305	Pathogenic/Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA1707318	rs_773386253	5 SubmittersRCV000647996 RCV000669143 RCV000733066 RCV002499105
NM_001130987.2(DYSF):c.5784+10C>T	SNV Germline	Chr2:71669756	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707492	rs_758268866	2 SubmittersRCV000648037
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)	SNV Germline	Chr2:71669174	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1707445	rs_199649417	4 SubmittersRCV000648015 RCV001276864 RCV002222581 RCV003144430
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)	SNV Germline	Chr2:71503254	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705302	rs_759171890	5 SubmittersRCV000647989 RCV001835044 RCV005054235
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)	SNV Germline	Chr2:71658989	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707160	rs_571364996	3 SubmittersRCV000648011 RCV001563807 RCV001563809 RCV001563808
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)	SNV Germline	Chr2:71503282	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705307	rs_201834175	3 SubmittersRCV000647984 RCV001253301 RCV005632566
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr2:71526326	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705662	rs_776036392	3 SubmittersRCV000647995 RCV001835045 RCV003162956
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)	SNV Germline	Chr2:71551140	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1705883	rs_541663451	4 SubmittersRCV000648014 RCV001829805 RCV003243237 RCV005632567
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)	SNV Germline	Chr2:71667421	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707346	rs_531935195	4 SubmittersRCV000647987 RCV001276860 RCV003144428
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)	SNV Germline	Chr2:71679080	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707548	rs_144116735	5 SubmittersRCV000648022 RCV001276870 RCV001311193
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)	SNV Germline	Chr2:71551635	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA1705913	rs_200916654	6 SubmittersRCV000656079 RCV001089586 RCV001220606 RCV005027769
NM_001130987.2(DYSF):c.460+1G>A	SNV Germline	Chr2:71511922	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA347205592	rs_1278864604	5 SubmittersRCV000665139 RCV000694014 RCV005027775
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)	SNV Germline	Chr2:71513784	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347207027	rs_1553521017	4 SubmittersRCV000672170 RCV001855574 RCV003459635
NM_001130987.2(DYSF):c.952-2A>G	SNV Germline	Chr2:71516987	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347210021	rs_1553522730	2 SubmittersRCV000672471 RCV002531316
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)	SNV Germline	Chr2:71539207	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347216767	rs_139258703	3 SubmittersRCV000669615 RCV002531232 RCV004568528
NM_001130987.2(DYSF):c.4221+1G>C	SNV Germline	Chr2:71611627	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347228990	rs_1474151297	2 SubmittersRCV000671253 RCV002531273
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	SNV Germline	Chr2:71656166	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1707097	rs_757820496	6 SubmittersRCV000696171 RCV001784229 RCV001810464 RCV003235334 RCV003459566
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)	SNV Germline	Chr2:71520871	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347212168	rs_766891289	7 SubmittersRCV000667055 RCV001058931 RCV001784244 RCV003465460 RCV005864522
NM_001130987.2(DYSF):c.1277-2A>C	SNV Germline	Chr2:71528296	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347214357	rs_1553531682	3 SubmittersRCV000670531 RCV003574799 RCV004568538
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)	SNV Germline	Chr2:71564196	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1706198	rs_199543257	3 SubmittersRCV000667000 RCV003574794 RCV004568505
NM_001130987.2(DYSF):c.3897+1G>A	SNV Germline	Chr2:71600843	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347225730	rs_1553376691	2 SubmittersRCV000674149 RCV001386682
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	SNV Germline	Chr2:71611481	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Reviewed By Expert Panel	CA1706888	rs_757917335	12 SubmittersRCV000671892 RCV001247195 RCV001531487 RCV004568544 RCV004586866 RCV005027813
NM_001130987.2(DYSF):c.5785-1G>C	SNV Germline	Chr2:71674196	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Lung cancer Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA1707512	rs_751473506	6 SubmittersRCV000665467 RCV000823836 RCV003465443 RCV005901440 RCV005034238
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:71454000	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347205795	rs_1459713589	3 SubmittersRCV000668555 RCV001377517
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)	SNV Germline	Chr2:71516996	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347210094	rs_1553522751	5 SubmittersRCV000671651 RCV001244231 RCV003459630 RCV006257312 RCV006448564
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)	SNV Germline	Chr2:71520816	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1705600	rs_768546511	5 SubmittersRCV000666238 RCV001235470 RCV003465449 RCV006448561
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)	SNV Germline	Chr2:71598644	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347223890	rs_1380642629	3 SubmittersRCV000673436 RCV003465528 RCV003574802
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)	SNV Germline	Chr2:71611329	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA49778670	rs_778092738	3 SubmittersRCV000669562 RCV001089589 RCV001868234
NM_001130987.2(DYSF):c.4528-2A>G	SNV Germline	Chr2:71643963	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347217740	rs_1213965862	4 SubmittersRCV000665741 RCV001256195 RCV001784234
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)	SNV Germline	Chr2:71664366	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided not specified Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707245	rs_143059463	6 SubmittersRCV000670528 RCV001247777 RCV001507566 RCV002271559 RCV002477502
NM_001130987.2(DYSF):c.5174+2T>C	SNV Germline	Chr2:71664440	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347220710	rs_1553412826	3 SubmittersRCV000673134 RCV003574801 RCV003459640
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)	SNV Germline	Chr2:71682607	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347227214	rs_1553422709	3 SubmittersRCV000666916 RCV003465457 RCV003767952
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)	SNV Germline	Chr2:71517029	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified	Criteria Provided Conflicting Classifications	CA347210280	rs_1258728780	4 SubmittersRCV000667928 RCV001067569 RCV002469246
NM_001130987.2(DYSF):c.1493+1G>A	SNV Germline	Chr2:71535312	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347215841	rs_1553536007	2 SubmittersRCV000670424 RCV001061856
NM_001130987.2(DYSF):c.1577-2A>G	SNV Germline	Chr2:71551039	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347217280	rs_1553542142	2 SubmittersRCV000667216 RCV003574795
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	SNV Germline	Chr2:71570277	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA1706376	rs_750028300	5 SubmittersRCV000666237 RCV000763506 RCV003465448 RCV004689834 RCV005091928
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)	SNV Germline	Chr2:71600804	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1706733	rs_763674597	4 SubmittersRCV000674515 RCV001784295 RCV001855610 RCV003459646
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)	SNV Germline	Chr2:71664414	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1707259	rs_753279446	5 SubmittersRCV000668653 RCV002507163 RCV002532078 RCV003459599 RCV005401566
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)	SNV Germline	Chr2:71669122	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA347222104	rs_1280185461	5 SubmittersRCV000673454 RCV001141004 RCV006452825 RCV006556526
NM_001130987.2(DYSF):c.5784+1G>A	SNV Germline	Chr2:71669747	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA49769333	rs_909564120	4 SubmittersRCV000669228 RCV003459608 RCV003736882
NM_001130987.2(DYSF):c.5885-1G>C	SNV Germline	Chr2:71679056	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1707541	rs_771257070	4 SubmittersRCV000670990 RCV002532106 RCV003465504 RCV006252460
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)	SNV Germline	Chr2:71682669	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA1707668	rs_746663568	7 SubmittersRCV000673203 RCV001035887 RCV003144473 RCV003465524 RCV005240445
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)	SNV Germline	Chr2:71564154	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706189	rs_749002214	4 SubmittersRCV000690013 RCV000997160 RCV001825341
NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)	SNV Germline	Chr2:71665197	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1707292	rs_776452710	2 SubmittersRCV000687119 RCV003144489
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)	SNV Germline	Chr2:71665254	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA49767324	rs_957111625	5 SubmittersRCV000695255 RCV001274106 RCV002493198 RCV003163191 RCV005641783
NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)	SNV Germline	Chr2:71564074	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA49742304	rs_121908956	2 SubmittersRCV000685812 RCV003144484
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)	SNV Germline	Chr2:71598730	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347224324	rs_375160101	1 SubmittersRCV000697485
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter)	SNV Germline	Chr2:71511822	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347205400	rs_1423123313	1 SubmittersRCV000687636
NM_001130987.2(DYSF):c.1003-2A>G	SNV Germline	Chr2:71520176	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347211410	rs_1559065297	1 SubmittersRCV000685236
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)	SNV Germline	Chr2:71612775	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706973	rs_368451006	3 SubmittersRCV000690467 RCV001274839
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)	SNV Germline	Chr2:71549377	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705842	rs_144931729	4 SubmittersRCV000706854 RCV000711549 RCV001271777 RCV002534470
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)	SNV Germline	Chr2:71600781	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706720	rs_202013788	4 SubmittersRCV000707469 RCV001830568 RCV003144573 RCV005821765
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)	SNV Germline	Chr2:71659031	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347219916	rs_1558750788	1 SubmittersRCV000696956
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)	SNV Germline	Chr2:71664350	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347220391	rs_368142107	1 SubmittersRCV000695893
NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter)	SNV Germline	Chr2:71669686	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347223854	rs_1558787893	1 SubmittersRCV000693077
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)	SNV Germline	Chr2:71568218	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA1706275	rs_769739410	7 SubmittersRCV000711553 RCV001048828 RCV001830577 RCV002532913 RCV003330916
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)	SNV Germline	Chr2:71568295	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706290	rs_747089235	4 SubmittersRCV000711555 RCV001825419 RCV006629191
NM_001130987.2(DYSF):c.4060-7T>A	SNV Germline	Chr2:71611458	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706885	rs_753614306	4 SubmittersRCV000711559 RCV000815486 RCV001271532
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)	SNV Germline	Chr2:71682668	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707667	rs_549673939	3 SubmittersRCV000729231 RCV001087446 RCV001276876
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)	SNV Germline	Chr2:71656247	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707110	rs_144422408	4 SubmittersRCV000729424 RCV001243182 RCV001825453
NM_001130987.2(DYSF):c.4755+8C>T	SNV Germline	Chr2:71656298	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA533262265	rs_1278005040	2 SubmittersRCV000729525 RCV001432031
NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile)	SNV Germline	Chr2:71669678	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA347223803	rs_1558787823	2 SubmittersRCV000729826 RCV006464116
NM_001130987.2(DYSF):c.1716C>T (p.Gly572=)	SNV Germline	Chr2:71551630	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA426701202	rs_1559138079	2 SubmittersRCV000730006 RCV002060987
NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)	SNV Germline	Chr2:71611325	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706845	rs_751571463	2 SubmittersRCV000730010 RCV001396629
NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)	SNV Germline	Chr2:71598730	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706678	rs_375160101	2 SubmittersRCV000730463 RCV001432731
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)	SNV Germline	Chr2:71667485	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder not specified	Criteria Provided Conflicting Classifications	CA1707359	rs_763198861	4 SubmittersRCV000730669 RCV001089213 RCV003965525 RCV006436893
NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=)	SNV Germline	Chr2:71612679	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706945	rs_547886773	2 SubmittersRCV000731460 RCV001497591
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)	SNV Germline	Chr2:71535046	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705730	rs_376358025	4 SubmittersRCV000731709 RCV000802202 RCV001830617 RCV002535234
NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)	SNV Germline	Chr2:71590215	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706608	rs_138317526	2 SubmittersRCV000731716 RCV002535235
NM_001130987.2(DYSF):c.240-5C>T	SNV Germline	Chr2:71503209	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA913189576	rs_1559021086	2 SubmittersRCV000731980 RCV001088790
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)	SNV Germline	Chr2:71611554	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706905	rs_566381009	3 SubmittersRCV000732770 RCV001089056
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)	SNV Germline	Chr2:71511856	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705343	rs_775881095	5 SubmittersRCV000732785 RCV001139687 RCV002535291
NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)	SNV Germline	Chr2:71551118	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705878	rs_780677692	2 SubmittersRCV000732902 RCV002535298
NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)	SNV Germline	Chr2:71520808	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705597	rs_778686949	2 SubmittersRCV000732913 RCV001422916
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)	SNV Germline	Chr2:71520895	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705613	rs_373744398	5 SubmittersRCV000733000 RCV001422852 RCV003892654
NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=)	SNV Germline	Chr2:71682566	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA426704901	rs_372244975	2 SubmittersRCV000733503 RCV001470274
NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)	SNV Germline	Chr2:71665210	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA426704042	rs_1558771751	2 SubmittersRCV000733641 RCV001444642
NM_001130987.2(DYSF):c.5784+8T>C	SNV Germline	Chr2:71669754	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA913189344	rs_1558788338	2 SubmittersRCV000733648 RCV002535344
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)	SNV Germline	Chr2:71611333	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706848	rs_61742872	4 SubmittersRCV000733708 RCV001247790 RCV001830635
NM_001130987.2(DYSF):c.5884+1G>A	SNV Germline	Chr2:71674297	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA49771597	rs_756689063	5 SubmittersRCV000733869 RCV000809651 RCV002290000 RCV003465667
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)	SNV Germline	Chr2:71511811	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705338	rs_199677396	5 SubmittersRCV000733873 RCV001038268 RCV001273962 RCV002536504
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)	SNV Germline	Chr2:71574330	Pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347218361	rs_1558513494	4 SubmittersRCV000734038 RCV003574807 RCV004569419
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)	SNV Germline	Chr2:71570686	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified	Criteria Provided Conflicting Classifications	CA1706453	rs_372226487	3 SubmittersRCV000734072 RCV001855799 RCV004768624
NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)	SNV Germline	Chr2:71669175	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707446	rs_759960173	2 SubmittersRCV000734109 RCV001490952
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)	SNV Germline	Chr2:71590242	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706617	rs_770648429	4 SubmittersRCV000734455 RCV000795781 RCV001830640 RCV005821773
NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)	SNV Germline	Chr2:71526267	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705645	rs_781380886	2 SubmittersRCV000734636 RCV001409217
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)	SNV Germline	Chr2:71669673	Conflicting classifications of pathogenicity	Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA347223773	rs_1024524968	3 SubmittersRCV000786071 RCV003144580 RCV003736901
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp)	SNV Germline	Chr2:71611582	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706911	rs_368601323	2 SubmittersRCV000762272 RCV001855711
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)	SNV Germline	Chr2:71658980	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1707158	rs_752946123	4 SubmittersRCV000778625 RCV002477780 RCV003230588 RCV005633675
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)	SNV Germline	Chr2:71515659	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347208440	rs_1573657614	1 SubmittersRCV000808963
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)	SNV Germline	Chr2:71551688	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1705922	rs_376932915	6 SubmittersRCV000815952 RCV001830788 RCV001664434 RCV004619428
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)	SNV Germline	Chr2:71553927	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1706040	rs_749488054	4 SubmittersRCV000807551 RCV001825603 RCV003145159
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)	SNV Germline	Chr2:71564133	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706187	rs_562925562	3 SubmittersRCV000822206 RCV001274455 RCV003353063
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)	SNV Germline	Chr2:71569839	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1706322	rs_535367520	4 SubmittersRCV000793819 RCV001271799 RCV003144591 RCV005550045
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)	SNV Germline	Chr2:71570631	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706433	rs_762486621	3 SubmittersRCV000799347 RCV001830718 RCV002487681
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)	SNV Germline	Chr2:71600750	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706711	rs_753817458	4 SubmittersRCV000796223 RCV001507562 RCV001272837
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)	SNV Germline	Chr2:71611344	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy DYSF-related disorder	Reviewed By Expert Panel	CA1706854	rs_758993965	10 SubmittersRCV000812166 RCV001089590 RCV001830775 RCV003461204 RCV005253143 RCV005870901
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)	SNV Germline	Chr2:71611558	Pathogenic/Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347228576	rs_1574340403	2 SubmittersRCV000801537 RCV003461132
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)	SNV Germline	Chr2:71613369	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1707003	rs_367709130	4 SubmittersRCV000824074 RCV001271539 RCV001766755 RCV002538195
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)	SNV Germline	Chr2:71613390	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter	CA347229643	rs_1574354515	2 SubmittersRCV000824113 RCV001830826
NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)	SNV Germline	Chr2:71660648	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347220124	rs_1573020369	1 SubmittersRCV000815299
NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)	SNV Germline	Chr2:71665163	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347220902	rs_1573060017	2 SubmittersRCV000824068 RCV005253649
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)	SNV Germline	Chr2:71665262	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707308	rs_757240900	3 SubmittersRCV000796972 RCV001830714 RCV003489878
NM_001130987.2(DYSF):c.1807-13T>C	SNV Germline	Chr2:71552998	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1705958	rs_756387775	3 SubmittersRCV000826986 RCV001142422
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)	SNV Germline	Chr2:71561922	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1706133	rs_185891286	3 SubmittersRCV000876867 RCV001271792 RCV001772165
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)	SNV Germline	Chr2:71574290	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA49749680	rs_945602962	2 SubmittersRCV000876566
NM_001130987.2(DYSF):c.1449+3G>A	SNV Germline	Chr2:71535092	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1705740	rs_764771218	3 SubmittersRCV000874517 RCV001276727 RCV003145218
NM_001130987.2(DYSF):c.5458-5C>T	SNV Germline	Chr2:71668749	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707395	rs_780391061	3 SubmittersRCV000872858 RCV001276861 RCV002064714
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)	SNV Germline	Chr2:71569892	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706334	rs_192717273	3 SubmittersRCV000953941 RCV001271800
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)	SNV Germline	Chr2:71612760	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1706969	rs_144072850	3 SubmittersRCV000960106 RCV001274837
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)	SNV Germline	Chr2:71613407	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1707011	rs_751456837	3 SubmittersRCV000895370 RCV001274840
NM_001130987.2(DYSF):c.4059+7C>T	SNV Germline	Chr2:71611353	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin not specified	Criteria Provided Conflicting Classifications	CA1706857	rs_562567295	3 SubmittersRCV000904463 RCV005432489
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)	SNV Germline	Chr2:71682677	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided	Criteria Provided Conflicting Classifications	CA1707670	rs_139267208	3 SubmittersRCV000912278 RCV001276877 RCV005865424
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)	SNV Germline	Chr2:71553130	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA1705979	rs_550180529	3 SubmittersRCV000930776 RCV001271782
NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=)	SNV Germline	Chr2:71658928	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA1707150	rs_774070544	2 SubmittersRCV001452961 RCV005633779
NM_001130987.2(DYSF):c.554-8C>T	SNV Germline	Chr2:71513708	Conflicting classifications of pathogenicity	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA892709605	rs_1257627361	2 SubmittersRCV001140452
NM_001130987.2(DYSF):c.5547-1G>C	SNV Germline	Chr2:71669111	Pathogenic/Likely pathogenic	Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA347222051	rs_1573094617	2 SubmittersRCV000991934 RCV001869370
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)	SNV Germline	Chr2:71515713	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Conflicting Classifications	CA347208767	rs_1573658295	3 SubmittersRCV001004963 RCV003736956 RCV006250903
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)	SNV Germline	Chr2:71613375	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707005	rs_767788624	2 SubmittersRCV001004986 RCV002551719
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)	SNV Germline	Chr2:71658944	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347219737	rs_1573009747	3 SubmittersRCV001004961 RCV001862745 RCV005864540
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)	SNV Germline	Chr2:71669689	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA347223875	rs_1336670524	2 SubmittersRCV001004987 RCV001860571
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)	SNV Germline	Chr2:71679093	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA347226288	rs_1573176526	3 SubmittersRCV001004960 RCV003574818
NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)	SNV Germline	Chr2:71517028	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA49761605	rs_121908963	2 SubmittersRCV001038919 RCV006252476
NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter)	SNV Germline	Chr2:71553169	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA347218736	rs_759841019	2 SubmittersRCV001038949 RCV005029589
NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter)	SNV Germline	Chr2:71564090	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347211234	rs_2091945455	1 SubmittersRCV001071497
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)	SNV Germline	Chr2:71570235	Pathogenic/Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347216336	rs_2092340623	2 SubmittersRCV001054582 RCV003467777
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu)	SNV Germline	Chr2:71570661	Likely pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347217018	rs_2092366383	1 SubmittersRCV001038453
NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter)	SNV Germline	Chr2:71598745	Pathogenic	Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Criteria Provided Single Submitter	CA347224358	rs_141720146	1 SubmittersRCV001063313

NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr2:71553071

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253901

rs_121908953

4 SubmittersRCV000007047 RCV000301362 RCV003574697 RCV006445460

NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)

SNV
Germline

Chr2:71682597

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222203

rs_121908955

15 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961 RCV005025020 RCV006252413

NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)

SNV
Germline

Chr2:71564074

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222139

rs_121908956

5 SubmittersRCV000007055 RCV000007056 RCV000790785 RCV000807968 RCV005430920

NM_001130987.2(DYSF):c.5174+5G>A

SNV
Germline

Chr2:71664443

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA253906

rs_745891180

6 SubmittersRCV000007057 RCV001781198 RCV002298436 RCV001851715 RCV003466824

NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

SNV
Germline

Chr2:71570300

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222147

rs_28937581

10 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846 RCV005031402

NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

SNV
Germline

Chr2:71570704

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222152

rs_121908958

11 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764 RCV006252414

NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

SNV
Germline

Chr2:71674242

Pathogenic

Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA118412

rs_121908959

14 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177 RCV005025022

NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

SNV
Germline

Chr2:71551073

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253913

rs_121908962

8 SubmittersRCV000007066 RCV000342783 RCV001048974 RCV005237357

NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)

SNV
Germline

Chr2:71517028

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253916

rs_121908963

8 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431 RCV006252415

NM_001130987.2(DYSF):c.1381-2A>G

SNV
Germline

Chr2:71535019

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253920

rs_786200897

4 SubmittersRCV000007070 RCV003574698 RCV005430921

NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

SNV
Germline

Chr2:71668842

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253922

rs_786205084

7 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993 RCV006252426

NM_001130987.2(DYSF):c.5796G>A (p.Trp1932Ter)

SNV
Germline

Chr2:71674208

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA49771552

rs_267599442

1 SubmittersRCV002938130

NM_001130987.2(DYSF):c.1149+1G>A

SNV
Germline

Chr2:71520905

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222120

rs_398123763

8 SubmittersRCV000174082 RCV000700616 RCV000711544 RCV000763501 RCV003466976 RCV005600649

NM_001130987.2(DYSF):c.1380+2T>C

SNV
Germline

Chr2:71528403

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA222122

rs_398123765

6 SubmittersRCV000080229 RCV000174526 RCV003574709 RCV003466978 RCV005867871

NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)

SNV
Germline

Chr2:71535282

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222125

rs_202044973

10 SubmittersRCV000080232 RCV000174882 RCV000698361 RCV003466979 RCV005025135 RCV006445495

NM_001130987.2(DYSF):c.1494-1G>A

SNV
Germline

Chr2:71539156

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222128

rs_398123768

4 SubmittersRCV000175043 RCV000790756 RCV003574710 RCV006249585

NM_003494.4(DYSF):c.1481-1G>A

SNV
Germline

Chr2:71549349

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222130

rs_398123770

9 SubmittersRCV000175175 RCV000711548 RCV002477229 RCV002514411 RCV003460748 RCV006252431

NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)

SNV
Germline

Chr2:71551631

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222133

rs_377735262

14 SubmittersRCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502 RCV005031566 RCV004998208

NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)

SNV
Germline

Chr2:71553148

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA147730

rs_115849497

8 SubmittersRCV000080246 RCV000544595 RCV001274450

NM_001130987.2(DYSF):c.2217-11G>A

SNV
Germline

Chr2:71561741

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222136

rs_200853014

4 SubmittersRCV000080248 RCV000723542 RCV001140666

NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)

SNV
Germline

Chr2:71561900

Pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA222137

rs_398123773

6 SubmittersRCV000176393 RCV001089587 RCV001390522 RCV003466982 RCV005025136

NM_001130987.2(DYSF):c.2697+1G>A

SNV
Germline

Chr2:71568083

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Clear cell carcinoma of kidney
Papillary renal cell carcinoma type 1

Reviewed By Expert Panel

CA222141

rs_140108514

16 SubmittersRCV000080255 RCV000176550 RCV000233433 RCV000697172 RCV000763504 RCV003415848 RCV004998211 RCV005886431 RCV005886430

NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)

SNV
Germline

Chr2:71568180

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222142

rs_398123775

3 SubmittersRCV000080256 RCV000668890 RCV002055161

NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)

SNV
Germline

Chr2:71569878

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA222144

rs_398123776

2 SubmittersRCV000356683 RCV001854415

NM_001130987.2(DYSF):c.3086-17G>T

SNV
Germline

Chr2:71570582

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222149

rs_3764971

3 SubmittersRCV000080263 RCV000667521 RCV002515772

NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)

SNV
Germline

Chr2:71570627

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222150

rs_398123778

5 SubmittersRCV000080264 RCV000666317 RCV001084847

NM_001130987.2(DYSF):c.346-17C>T

SNV
Germline

Chr2:71511790

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222155

rs_370498369

2 SubmittersRCV000080270 RCV002055163

NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

SNV
Germline

Chr2:71612726

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA222164

rs_398123787

12 SubmittersRCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797 RCV005025137

NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)

SNV
Germline

Chr2:71511892

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA222166

rs_139654844

7 SubmittersRCV000080288 RCV000647983 RCV001276718 RCV004019553

NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)

SNV
Germline

Chr2:71643993

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222170

rs_398123788

6 SubmittersRCV000080290 RCV001854416 RCV003460752 RCV005614381 RCV005600652

NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)

SNV
Germline

Chr2:71658970

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147764

rs_62145939

11 SubmittersRCV000080294 RCV000538106 RCV001271545 RCV001795106

NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)

SNV
Germline

Chr2:71658995

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222174

rs_398123789

13 SubmittersRCV000178524 RCV000790739 RCV000794872 RCV003466985 RCV005409617 RCV005600653

NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)

SNV
Germline

Chr2:71659033

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222176

rs_141704244

12 SubmittersRCV000080297 RCV000548178 RCV001271548 RCV003466986 RCV004549503 RCV005025138 RCV005406809

NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)

SNV
Germline

Chr2:71660641

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA222178

rs_147056383

12 SubmittersRCV000080298 RCV000669830 RCV000864868 RCV001086563 RCV003952509

NM_001130987.2(DYSF):c.606G>A (p.Ala202=)

SNV
Germline

Chr2:71513768

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA222182

rs_398123791

4 SubmittersRCV000080301 RCV001086592 RCV001826719 RCV003894938

NM_001130987.2(DYSF):c.5458-2A>C

SNV
Germline

Chr2:71668752

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA222184

rs_398123792

2 SubmittersRCV000395191 RCV001201873

NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

SNV
Germline

Chr2:71669179

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA222188

rs_201592500

2 SubmittersRCV000178687 RCV003574712

NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

SNV
Germline

Chr2:71669191

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222190

rs_398123794

10 SubmittersRCV000178688 RCV000790680 RCV001384247 RCV003466987 RCV005031568 RCV005867872 RCV006252435

NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)

SNV
Germline

Chr2:71669723

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA222193

rs_398123795

2 SubmittersRCV000340623 RCV003764760

NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr2:71513868

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA222201

rs_373585652

11 SubmittersRCV000179424 RCV000693273 RCV000711569 RCV003114244 RCV003474680

NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)

SNV
Germline

Chr2:71682612

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA222205

rs_150834671

8 SubmittersRCV000543402 RCV000725370 RCV001449586 RCV001276874

NM_001130987.2(DYSF):c.759+1G>C

SNV
Germline

Chr2:71513922

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222207

rs_398123800

5 SubmittersRCV000179423 RCV000790678 RCV001386483 RCV002498413 RCV003474681

NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)

SNV
Germline

Chr2:71515714

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA222210

rs_398123802

10 SubmittersRCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990

NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)

SNV
Germline

Chr2:71516990

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222220

rs_398123807

6 SubmittersRCV000080333 RCV000696449 RCV001831823 RCV003330426

NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)

SNV
Germline

Chr2:71516998

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222222

rs_398123808

4 SubmittersRCV000080334 RCV003236666 RCV003460754 RCV005600655

NM_001130987.2(DYSF):c.1033+1G>A

SNV
Germline

Chr2:71520209

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222224

rs_201869739

9 SubmittersRCV000173782 RCV000262780 RCV000801493 RCV001810422 RCV003466991 RCV006445498

NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)

SNV
Germline

Chr2:71574310

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA152663

rs_59915619

8 SubmittersRCV000116927 RCV001086595 RCV001826784

NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)

SNV
Germline

Chr2:71612796

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Cervical cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Thymoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA152667

rs_76576806

9 SubmittersRCV000116929 RCV000711561 RCV001080539 RCV001271538 RCV005888065 RCV005888066 RCV005888068 RCV005888067 RCV005888064

NM_001130987.2(DYSF):c.3756+9G>T

SNV
Germline

Chr2:71598754

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA175985

rs_191746041

9 SubmittersRCV000150588 RCV000528464 RCV001711418 RCV003975173

NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)

SNV
Germline

Chr2:71513767

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179983

rs_34999029

4 SubmittersRCV000153173 RCV001140455 RCV005632263

NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)

SNV
Germline

Chr2:71667441

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA233939

rs_727503912

4 SubmittersRCV000153184 RCV001857527 RCV003462059

NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)

SNV
Germline

Chr2:71600831

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
DYSF-related disorder

Reviewed By Expert Panel

CA233937

rs_727503911

14 SubmittersRCV000323235 RCV000984259 RCV000809801 RCV003467211 RCV002492572 RCV005252773 RCV003917498

NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)

SNV
Germline

Chr2:71520889

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233928

rs_571559303

7 SubmittersRCV000153174 RCV000878829 RCV001826823 RCV003422044

NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)

SNV
Germline

Chr2:71561869

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA179985

rs_116204385

7 SubmittersRCV000153175 RCV000876464 RCV001704108 RCV001831950

NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)

SNV
Germline

Chr2:71568318

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA233931

rs_727503910

8 SubmittersRCV000153178 RCV000668306 RCV003329115 RCV003462058 RCV005055626

NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)

SNV
Germline

Chr2:71574236

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA233933

rs_150355624

4 SubmittersRCV000249417 RCV000723785 RCV001086229 RCV001272827

NM_001130987.2(DYSF):c.5451C>T (p.Ile1817=)

SNV
Germline

Chr2:71667509

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA233941

rs_727503913

2 SubmittersRCV000153185 RCV001438751

NM_001130987.2(DYSF):c.5458-17G>A

SNV
Germline

Chr2:71668737

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA233943

rs_147638721

2 SubmittersRCV000153186 RCV002056031

NM_001130987.2(DYSF):c.5642+1G>A

SNV
Germline

Chr2:71669208

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA233946

rs_727503915

5 SubmittersRCV000407918 RCV000648019 RCV002469027 RCV003467212 RCV005025232

NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)

SNV
Germline

Chr2:71553110

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA241938

rs_201049092

9 SubmittersRCV000176067 RCV000675177 RCV001852168 RCV003468857 RCV003235095 RCV005025280

NM_001130987.2(DYSF):c.1985-4C>G

SNV
Germline

Chr2:71553803

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA242073

rs_374489513

4 SubmittersRCV000176196 RCV001080312 RCV001271784

NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)

SNV
Germline

Chr2:71561870

Conflicting classifications of pathogenicity

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA242326

rs_138654170

7 SubmittersRCV000176395 RCV000765697 RCV001085145 RCV001271790

NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)

SNV
Germline

Chr2:71568199

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242686

rs_201622087

6 SubmittersRCV000176653 RCV000553449 RCV001267331

NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

SNV
Germline

Chr2:71569911

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
DYSF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242772

rs_144636654

14 SubmittersRCV000725533 RCV001079396 RCV001272822 RCV001810433 RCV001449649 RCV004552986 RCV006452486

NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

SNV
Germline

Chr2:71570608

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275155

rs_756328339

8 SubmittersRCV000176934 RCV000724183 RCV001050002 RCV001804906 RCV003468860

NM_001130987.2(DYSF):c.3086-9C>T

SNV
Germline

Chr2:71570590

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA243042

rs_185350547

5 SubmittersRCV000176935 RCV000725375 RCV001086193

NM_001130987.2(DYSF):c.3229-5T>C

SNV
Germline

Chr2:71574193

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA243639

rs_794727532

2 SubmittersRCV000177450 RCV001503854

NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)

SNV
Germline

Chr2:71574272

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA202484

rs_201477760

4 SubmittersRCV000177463 RCV000539475

NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter)

SNV
Germline

Chr2:71574253

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA275194

rs_794727534

2 SubmittersRCV000177464 RCV001852191

NM_001130987.2(DYSF):c.3403-2A>G

SNV
Germline

Chr2:71589591

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA275204

rs_370874727

6 SubmittersRCV000277199 RCV000701150 RCV000984258 RCV003468863 RCV004800315 RCV005889935

NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)

SNV
Germline

Chr2:71600759

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA244680

rs_146970014

9 SubmittersRCV000177777 RCV000656846 RCV001084687 RCV001336578 RCV002516753 RCV003937609

NM_001130987.2(DYSF):c.3957+9G>A

SNV
Germline

Chr2:71602814

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA244830

rs_794727590

2 SubmittersRCV000177874 RCV002516757

NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)

SNV
Germline

Chr2:71612673

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA244985

rs_142769942

6 SubmittersRCV000177975 RCV001084664 RCV001274833 RCV001640271

NM_001130987.2(DYSF):c.246G>A (p.Leu82=)

SNV
Germline

Chr2:71503220

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA245222

rs_756463088

3 SubmittersRCV000178192 RCV000810796 RCV001832021

NM_001130987.2(DYSF):c.279C>T (p.Leu93=)

SNV
Germline

Chr2:71503253

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA245224

rs_138870937

3 SubmittersRCV000178193 RCV001436730

NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr2:71503242

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA275254

rs_794727636

8 SubmittersRCV000178195 RCV000724670 RCV001040341 RCV003462284 RCV005600802

NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

SNV
Germline

Chr2:71643988

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275268

rs_766016391

10 SubmittersRCV000178461 RCV000527540 RCV000724391 RCV002485170 RCV003468866

NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)

SNV
Germline

Chr2:71664274

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA245726

rs_151276652

4 SubmittersRCV000178575 RCV001079331 RCV001835707

NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)

SNV
Germline

Chr2:71667447

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245812

rs_370866476

4 SubmittersRCV000178627 RCV000813699 RCV001826908 RCV003165373

NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)

SNV
Germline

Chr2:71682530

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA246386

rs_143762717

12 SubmittersRCV000724811 RCV001080306 RCV001276873 RCV003243003 RCV003977471

NM_001130987.2(DYSF):c.760-8G>C

SNV
Germline

Chr2:71515615

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA247122

rs_748159785

5 SubmittersRCV000179814 RCV001079092 RCV003895202

NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)

SNV
Germline

Chr2:71515749

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA275391

rs_794727851

4 SubmittersRCV000179815 RCV000724796 RCV004567382 RCV006555559

NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)

SNV
Germline

Chr2:71515666

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA247174

rs_150917600

7 SubmittersRCV000656845 RCV000706741 RCV001276722 RCV001336579

NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)

SNV
Germline

Chr2:71515660

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA275400

rs_141497053

7 SubmittersRCV000179859 RCV000984257 RCV002265663 RCV001852238 RCV003468872 RCV005025287

NM_001130987.2(DYSF):c.777C>T (p.Ile259=)

SNV
Germline

Chr2:71515640

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203476

rs_138054675

6 SubmittersRCV000179860 RCV000543185 RCV003422075

NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)

SNV
Germline

Chr2:71589667

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA208352

rs_576460368

4 SubmittersRCV000194280 RCV000664777 RCV001462615 RCV003895245

NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)

SNV
Germline

Chr2:71665182

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA351294

rs_779987458

3 SubmittersRCV000648020 RCV000672247 RCV003469178

NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

SNV
Germline

Chr2:71553092

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA277606

rs_746873768

11 SubmittersRCV000201076 RCV000255415 RCV000531181 RCV000763503 RCV003468914 RCV005864462

NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

SNV
Germline

Chr2:71570679

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA277609

rs_369607332

14 SubmittersRCV000201098 RCV000255805 RCV000526163 RCV001814110 RCV003462352 RCV005893611

NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)

SNV
Germline

Chr2:71665181

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA279083

rs_863225021

11 SubmittersRCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915 RCV005031752

NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)

SNV
Germline

Chr2:71570680

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706448

rs_150877497

19 SubmittersRCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174 RCV005031823 RCV005252832

NM_001130987.2(DYSF):c.378G>A (p.Pro126=)

SNV
Germline

Chr2:71511839

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705341

rs_377056951

4 SubmittersRCV000242037 RCV000725503 RCV001087267 RCV001276717

NM_001130987.2(DYSF):c.690C>T (p.Pro230=)

SNV
Germline

Chr2:71513852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705418

rs_376293526

6 SubmittersRCV000247945 RCV000725510 RCV001082722 RCV001273969

NM_001130987.2(DYSF):c.772G>A (p.Val258Met)

SNV
Germline

Chr2:71515635

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705456

rs_150345121

6 SubmittersRCV000249294 RCV000532146 RCV000733997 RCV001833275

NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)

SNV
Germline

Chr2:71553838

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706027

rs_199565036

4 SubmittersRCV000246296 RCV000665737 RCV000966654

NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)

SNV
Germline

Chr2:71553929

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706042

rs_74423119

9 SubmittersRCV000251223 RCV000513999 RCV001081560 RCV001828138 RCV002519917

NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)

SNV
Germline

Chr2:71568007

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706238

rs_191337920

7 SubmittersRCV000251826 RCV000726086 RCV001086817 RCV001271794

NM_001130987.2(DYSF):c.2980-15C>T

SNV
Germline

Chr2:71570214

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706360

rs_148732505

4 SubmittersRCV000252169 RCV001137792 RCV001753721

NM_001130987.2(DYSF):c.3403-10G>A

SNV
Germline

Chr2:71589583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706549

rs_116733194

6 SubmittersRCV000249764 RCV000725483 RCV001272830 RCV001082993

NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)

SNV
Germline

Chr2:71600797

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706726

rs_139983909

6 SubmittersRCV000247034 RCV000725763 RCV001087720 RCV001272838

NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)

SNV
Germline

Chr2:71643979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707050

rs_148055736

5 SubmittersRCV000244684 RCV000725538 RCV001080585 RCV001271542

NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr2:71503308

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10588346

rs_746315830

9 SubmittersRCV000254734 RCV001004980 RCV001089583 RCV001855002 RCV005025407 RCV006252444

NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)

SNV
Germline

Chr2:71526295

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1705654

rs_758180890

8 SubmittersRCV000255632 RCV000817143 RCV000763502 RCV003993912 RCV003463719 RCV004547650

NM_001130987.2(DYSF):c.1693-6T>A

SNV
Germline

Chr2:71551601

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10588347

rs_886039573

8 SubmittersRCV000254712 RCV000597734 RCV001381504 RCV003463720 RCV006252445

NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)

SNV
Germline

Chr2:71611483

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA1706889

rs_199870606

8 SubmittersRCV000408314 RCV000802767 RCV003469216 RCV005252849 RCV005025412

NM_001130987.2(DYSF):c.5174+5G>T

SNV
Germline

Chr2:71664443

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10603780

rs_745891180

3 SubmittersRCV000292755 RCV003232988 RCV006252446

NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)

SNV
Germline

Chr2:71590246

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10603799

rs_886042091

7 SubmittersRCV000518638 RCV001247365 RCV001828174 RCV003469217 RCV005031849

NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)

SNV
Germline

Chr2:71528393

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603801

rs_886042093

3 SubmittersRCV000379326 RCV001244501 RCV004800370

NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)

SNV
Germline

Chr2:71668799

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707403

rs_139879284

8 SubmittersRCV000725163 RCV001085921 RCV001276862 RCV004021072 RCV003939934

NM_001130987.2(DYSF):c.5003+1249G>T

SNV
Germline

Chr2:71661900

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10603819

rs_886042110

6 SubmittersRCV000353624 RCV000591407 RCV001855080 RCV003469219 RCV005031850 RCV005600888

NM_001130987.2(DYSF):c.5304C>A (p.Ser1768=)

SNV
Germline

Chr2:71665291

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707313

rs_748704263

2 SubmittersRCV000300278 RCV001470548

NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)

SNV
Germline

Chr2:71665253

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707306

rs_148541407

8 SubmittersRCV000302512 RCV000547122 RCV001274105 RCV001531488

NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)

SNV
Germline

Chr2:71590255

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706621

rs_139194093

8 SubmittersRCV000382528 RCV000648004 RCV001272831 RCV003243035

NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

SNV
Germline

Chr2:71682536

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707641

rs_147263499

8 SubmittersRCV000315999 RCV000540445 RCV001081387 RCV001449592 RCV001833308

NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)

SNV
Germline

Chr2:71570624

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706430

rs_143475751

6 SubmittersRCV000280424 RCV000648035 RCV001091458 RCV001276436

NM_001130987.2(DYSF):c.1276+5G>C

SNV
Germline

Chr2:71526351

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604017

rs_766433603

7 SubmittersRCV000311902 RCV001059832 RCV005407007 RCV005025417 RCV005614397

NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)

SNV
Germline

Chr2:71535087

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705737

rs_141818764

12 SubmittersRCV000711546 RCV001084088 RCV001449924 RCV001276725 RCV001820812

NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)

SNV
Germline

Chr2:71669708

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707485

rs_762258343

3 SubmittersRCV000317613 RCV000754725 RCV002521880

NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)

SNV
Germline

Chr2:71526334

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA10604166

rs_886042389

6 SubmittersRCV000292426 RCV000725084 RCV001070518 RCV003317179 RCV003469225

NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)

SNV
Germline

Chr2:71611324

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706844

rs_201476613

8 SubmittersRCV000340111 RCV001086001 RCV001820813 RCV001835749

NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)

SNV
Germline

Chr2:71570682

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706450

rs_760443264

8 SubmittersRCV000351237 RCV000665378 RCV001297834 RCV003469226 RCV004751419

NM_001130987.2(DYSF):c.4911+1G>T

SNV
Germline

Chr2:71659034

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1707169

rs_777216777

2 SubmittersRCV000397485 RCV001223491

NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)

SNV
Germline

Chr2:71667478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707357

rs_148860301

10 SubmittersRCV000266653 RCV000725114 RCV000757894 RCV001141002 RCV001810440 RCV003463743

NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)

SNV
Germline

Chr2:71643997

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707053

rs_544993852

6 SubmittersRCV000356459 RCV000542418 RCV001833323 RCV003977746

NM_001130987.2(DYSF):c.978A>T (p.Thr326=)

SNV
Germline

Chr2:71517015

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705538

rs_112007817

5 SubmittersRCV000328096 RCV001085447 RCV001273973 RCV003955443

NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)

SNV
Germline

Chr2:71589599

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706555

rs_144634077

4 SubmittersRCV000284503 RCV000648010

NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)

SNV
Germline

Chr2:71570251

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706371

rs_34061568

8 SubmittersRCV000725139 RCV001084284 RCV001272823 RCV003920053

NM_001130987.2(DYSF):c.2409+1G>A

SNV
Germline

Chr2:71561945

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604289

rs_151317754

6 SubmittersRCV000261362 RCV000349131 RCV001379694 RCV003463745 RCV005632351

NM_001130987.2(DYSF):c.1167C>T (p.Pro389=)

SNV
Germline

Chr2:71526237

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10604307

rs_886042490

2 SubmittersRCV000283141 RCV002518861

NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)

SNV
Germline

Chr2:71665263

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA1707309

rs_147678255

10 SubmittersRCV000689268 RCV000711566 RCV001274852 RCV003278732 RCV005895589

NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)

SNV
Germline

Chr2:71590212

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1706606

rs_758944159

3 SubmittersRCV000385716 RCV000407800

NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr2:71556002

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Cervical cancer

Criteria Provided
Conflicting Classifications

CA1706065

rs_145007061

7 SubmittersRCV000725234 RCV001087666 RCV001271785 RCV005895592

NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)

SNV
Germline

Chr2:71535299

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705768

rs_199879861

6 SubmittersRCV000330051 RCV000525084 RCV001274442

NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr2:71551676

Pathogenic/Likely pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10604502

rs_886042633

3 SubmittersRCV000259897 RCV001727667 RCV001859579

NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr2:71644013

Pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10604504

rs_886042635

4 SubmittersRCV000299421 RCV001815304 RCV003765605

NM_001130987.2(DYSF):c.5785-7G>A

SNV
Germline

Chr2:71674190

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA1707510

rs_753861836

11 SubmittersRCV000331428 RCV000485381 RCV001058932 RCV001788187 RCV003469228

NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)

SNV
Germline

Chr2:71553833

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706026

rs_538170367

4 SubmittersRCV000348203 RCV001466761 RCV001823130 RCV004619239

NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)

SNV
Germline

Chr2:71590266

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706624

rs_201319864

5 SubmittersRCV000262877 RCV001088632 RCV001272832 RCV003920065

NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)

SNV
Germline

Chr2:71481890

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10604511

rs_886042641

5 SubmittersRCV000323798 RCV000695592 RCV000984260

NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)

SNV
Germline

Chr2:71612774

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706972

rs_139411595

6 SubmittersRCV000278721 RCV000792442 RCV001274838 RCV002518888 RCV003909953

NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)

SNV
Germline

Chr2:71515717

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705480

rs_140002194

10 SubmittersRCV000488274 RCV001142308 RCV001828197 RCV002518899 RCV002494838

NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)

SNV
Germline

Chr2:71564125

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA1706183

rs_35297901

10 SubmittersRCV000356959 RCV000695150 RCV001271793 RCV002487214 RCV005863084 RCV005895631

NM_001130987.2(DYSF):c.6249G>T (p.Arg2083=)

SNV
Germline

Chr2:71682605

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10604648

rs_886042758

2 SubmittersRCV000386316 RCV001462470

NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)

SNV
Germline

Chr2:71570626

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706432

rs_764931697

7 SubmittersRCV000313635 RCV000701610 RCV000666376 RCV002494839

NM_001130987.2(DYSF):c.5361G>A (p.Glu1787=)

SNV
Germline

Chr2:71667419

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707343

rs_140812535

2 SubmittersRCV000275091 RCV002059147

NM_001130987.2(DYSF):c.3863T>G (p.Leu1288Arg)

SNV
Germline

Chr2:71600808

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10604735

rs_886042828

2 SubmittersRCV000316493 RCV001855139

NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

SNV
Germline

Chr2:71569884

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706331

rs_202218890

14 SubmittersRCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231 RCV006445646

NM_001130987.2(DYSF):c.1577-1699C>T

SNV
Germline

Chr2:71549342

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705835

rs_183489578

3 SubmittersRCV000349882 RCV001087804 RCV001276728

NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

SNV
Germline

Chr2:71481940

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604804

rs_886042878

6 SubmittersRCV000596973 RCV000725459 RCV003736685 RCV006252447

NM_001130987.2(DYSF):c.5458-1G>A

SNV
Germline

Chr2:71668753

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604805

rs_886042879

4 SubmittersRCV000591549 RCV001376862 RCV003463754

NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)

SNV
Germline

Chr2:71669200

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604806

rs_886042880

5 SubmittersRCV000265900 RCV001859602 RCV003401247 RCV006263826

NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)

SNV
Germline

Chr2:71528332

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705699

rs_148697028

6 SubmittersRCV000406958 RCV000543795 RCV001731560 RCV001828203

NM_001130987.2(DYSF):c.254C>T (p.Ala85Val)

SNV
Germline

Chr2:71503228

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705297

rs_772008300

3 SubmittersRCV000293243 RCV002519155

NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)

SNV
Germline

Chr2:71568053

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706245

rs_200049922

8 SubmittersRCV000416052 RCV000531939 RCV001271795

NM_001130987.2(DYSF):c.1450-6C>T

SNV
Germline

Chr2:71535262

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705763

rs_757776087

2 SubmittersRCV000302558 RCV001461758

NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)

SNV
Germline

Chr2:71515716

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705479

rs_149827237

12 SubmittersRCV000595594 RCV001379021 RCV001254624 RCV002502122 RCV003469232 RCV006252448

NM_001130987.2(DYSF):c.3085+2T>C

SNV
Germline

Chr2:71570336

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604913

rs_886042951

7 SubmittersRCV000280615 RCV001037309 RCV001828208 RCV003469233 RCV006252449

NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

SNV
Germline

Chr2:71481936

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705253

rs_114986640

5 SubmittersRCV000284030 RCV000544371 RCV001283516

NM_001130987.2(DYSF):c.2864+8G>A

SNV
Germline

Chr2:71568346

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706300

rs_371686795

4 SubmittersRCV000308748 RCV001086799 RCV001271798 RCV003939998

NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)

SNV
Germline

Chr2:71674286

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707524

rs_750860886

6 SubmittersRCV000262181 RCV000648008 RCV001276869 RCV004619242

NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)

SNV
Germline

Chr2:71598667

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706662

rs_148858485

7 SubmittersRCV000274574 RCV000725546 RCV001083505 RCV001276446 RCV001509578

NM_001130987.2(DYSF):c.888+2T>A

SNV
Germline

Chr2:71515753

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10604937

rs_886042970

3 SubmittersRCV000352399 RCV003765624

NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)

SNV
Germline

Chr2:71526299

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705655

rs_746610724

5 SubmittersRCV000264809 RCV001241483 RCV001828209 RCV002521928

NM_001130987.2(DYSF):c.4222-8C>T

SNV
Germline

Chr2:71612633

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706932

rs_772066982

2 SubmittersRCV000319197 RCV001080903

NM_001130987.2(DYSF):c.397C>T (p.Leu133=)

SNV
Germline

Chr2:71511858

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10604985

rs_886043009

2 SubmittersRCV000283972 RCV000541561

NM_001130987.2(DYSF):c.6174-8G>A

SNV
Germline

Chr2:71682522

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707636

rs_777167646

3 SubmittersRCV000310275 RCV000725581 RCV001088913

NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)

SNV
Germline

Chr2:71535047

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705732

rs_150093305

4 SubmittersRCV000259934 RCV000725584 RCV001089239 RCV001274441

NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)

SNV
Germline

Chr2:71598667

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706663

rs_148858485

8 SubmittersRCV000725593 RCV001081328 RCV001272833

NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)

SNV
Germline

Chr2:71681110

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10605008

rs_886042452

2 SubmittersRCV000304230 RCV000811495

NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)

SNV
Germline

Chr2:71667482

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707358

rs_137855767

3 SubmittersRCV000289625 RCV001088815 RCV001274107

NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)

SNV
Germline

Chr2:71513721

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705380

rs_200970855

6 SubmittersRCV000301411 RCV001082288 RCV001833344

NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)

SNV
Germline

Chr2:71612701

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706954

rs_769721856

6 SubmittersRCV000272470 RCV000984261 RCV001382219 RCV005025423 RCV005864467

NM_001130987.2(DYSF):c.1371G>C (p.Ala457=)

SNV
Germline

Chr2:71528392

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705710

rs_140667960

2 SubmittersRCV000336901 RCV001489194

NM_001130987.2(DYSF):c.4474G>A (p.Gly1492Ser)

SNV
Germline

Chr2:71620556

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707026

rs_766512164

3 SubmittersRCV000725599 RCV001495704

NM_001130987.2(DYSF):c.1577-1G>A

SNV
Germline

Chr2:71551040

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1705868

rs_189923208

2 SubmittersRCV000317735 RCV000809637

NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)

SNV
Germline

Chr2:71570638

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706435

rs_372880553

7 SubmittersRCV000310622 RCV000803161 RCV001833347 RCV003463758

NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)

SNV
Germline

Chr2:71660631

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707204

rs_142301132

6 SubmittersRCV000260045 RCV001088177 RCV001274850 RCV003940005

NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)

SNV
Germline

Chr2:71644034

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1707060

rs_150139276

9 SubmittersRCV000530924 RCV000664797 RCV000725642 RCV003235177

NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)

SNV
Germline

Chr2:71612772

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605167

rs_886043145

5 SubmittersRCV000556431 RCV000597200 RCV002494847 RCV003463761

NM_001130987.2(DYSF):c.3757-2A>G

SNV
Germline

Chr2:71600700

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10605171

rs_886043149

2 SubmittersRCV000273343 RCV006462334

NM_001130987.2(DYSF):c.316C>T (p.Leu106=)

SNV
Germline

Chr2:71503290

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705310

rs_374934430

3 SubmittersRCV000377708 RCV001481283

NM_001130987.2(DYSF):c.5004-1G>A

SNV
Germline

Chr2:71664267

Pathogenic/Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10605197

rs_886043170

3 SubmittersRCV000367315 RCV005031860 RCV006462335

NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)

SNV
Germline

Chr2:71667391

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1707338

rs_145272777

10 SubmittersRCV000374736 RCV000664874 RCV000778917 RCV001329706 RCV001563739 RCV003940011 RCV005355595

NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)

SNV
Germline

Chr2:71658902

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707143

rs_149768871

7 SubmittersRCV000306735 RCV001055238 RCV002519192 RCV001833354

NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)

SNV
Germline

Chr2:71664358

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707241

rs_149087116

5 SubmittersRCV000356086 RCV001081951 RCV001274103

NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)

SNV
Germline

Chr2:71539161

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1705795

rs_185119682

7 SubmittersRCV000335981 RCV000535143 RCV001274443 RCV002480026

NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)

SNV
Germline

Chr2:71520183

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705569

rs_146687581

5 SubmittersRCV000321068 RCV001084085

NM_001130987.2(DYSF):c.4756-3C>T

SNV
Germline

Chr2:71658875

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707142

rs_371227553

7 SubmittersRCV000334866 RCV000529091 RCV001083939 RCV001833355 RCV003947911

NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)

SNV
Germline

Chr2:71667477

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707356

rs_746243052

14 SubmittersRCV000294536 RCV000725796 RCV000817667 RCV003469237 RCV005025425 RCV003114448

NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp)

SNV
Germline

Chr2:71553926

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706039

rs_148652047

7 SubmittersRCV000329065 RCV000559041 RCV000725802 RCV004021194

NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)

SNV
Germline

Chr2:71611553

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706904

rs_149182447

4 SubmittersRCV000331066 RCV000820404 RCV001828229 RCV005821677

NM_001130987.2(DYSF):c.432G>T (p.Pro144=)

SNV
Germline

Chr2:71511893

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705350

rs_542176164

2 SubmittersRCV000308273 RCV001447475

NM_001130987.2(DYSF):c.5478C>T (p.Val1826=)

SNV
Germline

Chr2:71668774

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707398

rs_145143725

5 SubmittersRCV000311115 RCV000648047 RCV003949878

NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)

SNV
Germline

Chr2:71553148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705986

rs_115849497

4 SubmittersRCV000382853 RCV000725847 RCV001078656 RCV001271783

NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)

SNV
Germline

Chr2:71570688

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706454

rs_144598063

12 SubmittersRCV000361984 RCV000665677 RCV000693473 RCV003401254 RCV005025426

NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)

SNV
Germline

Chr2:71513790

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705397

rs_143562525

6 SubmittersRCV000342489 RCV000793369 RCV001273965

NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)

SNV
Germline

Chr2:71611255

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706829

rs_116426399

8 SubmittersRCV000291125 RCV000526675 RCV001085337 RCV003967764 RCV004975396

NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)

SNV
Germline

Chr2:71556003

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706066

rs_201239189

4 SubmittersRCV000392895 RCV001088299 RCV001563802 RCV001563803 RCV001271786

NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)

SNV
Germline

Chr2:71574312

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706529

rs_147483765

4 SubmittersRCV000383544 RCV001085324 RCV001276442

NM_001130987.2(DYSF):c.990C>T (p.Leu330=)

SNV
Germline

Chr2:71517027

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705539

rs_140809078

4 SubmittersRCV000726069 RCV001086161 RCV001833377

NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)

SNV
Germline

Chr2:71611548

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706903

rs_145412880

8 SubmittersRCV001086923 RCV003957489 RCV000710131

NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

SNV
Germline

Chr2:71681053

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Primary dilated cardiomyopathy
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707599

rs_115407852

14 SubmittersRCV000356385 RCV000487973 RCV000675073 RCV001085395 RCV001449928 RCV003448906 RCV004549599

NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)

SNV
Germline

Chr2:71520794

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705596

rs_745746091

4 SubmittersRCV000329171 RCV001247468 RCV001833378

NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr2:71526325

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705660

rs_527435707

8 SubmittersRCV000726094 RCV001139795 RCV001833380 RCV003155152

NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)

SNV
Germline

Chr2:71561937

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi myopathy
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706139

rs_147139414

6 SubmittersRCV000385438 RCV000525552 RCV001535516

NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)

SNV
Germline

Chr2:71659033

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707168

rs_141704244

6 SubmittersRCV000387010 RCV001241552 RCV001828247

NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)

SNV
Germline

Chr2:71682670

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10605966

rs_886043805

2 SubmittersRCV000282124 RCV001039650

NM_001130987.2(DYSF):c.1149+4A>G

SNV
Germline

Chr2:71520908

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705618

rs_761302882

4 SubmittersRCV000311787 RCV001855200 RCV005409647 RCV005864470

NM_001130987.2(DYSF):c.1167C>G (p.Pro389=)

SNV
Germline

Chr2:71526237

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10605976

rs_886042490

2 SubmittersRCV000325322 RCV002059233

NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)

SNV
Germline

Chr2:71520871

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605994

rs_766891289

7 SubmittersRCV000336319 RCV001067684 RCV001823131 RCV005409648 RCV004800374

NM_001130987.2(DYSF):c.135T>C (p.Pro45=)

SNV
Germline

Chr2:71480926

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606030

rs_886043852

2 SubmittersRCV000392352 RCV002059234

NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)

SNV
Germline

Chr2:71561905

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606035

rs_553605812

4 SubmittersRCV000726140 RCV001271791 RCV000384090 RCV001396652

NM_001130987.2(DYSF):c.4830C>T (p.Ala1610=)

SNV
Germline

Chr2:71658952

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707153

rs_375485030

3 SubmittersRCV000337609 RCV001086983

NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

SNV
Germline

Chr2:71520904

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705617

rs_199955501

9 SubmittersRCV000402278 RCV000726161 RCV000665200 RCV001080526 RCV001449952 RCV003897632

NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)

SNV
Germline

Chr2:71681037

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707595

rs_201890095

5 SubmittersRCV000310459 RCV001087591

NM_001130987.2(DYSF):c.4371C>T (p.Ser1457=)

SNV
Germline

Chr2:71612790

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606087

rs_886043896

2 SubmittersRCV000355881 RCV002518037

NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)

SNV
Germline

Chr2:71553119

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606091

rs_886043900

8 SubmittersRCV000597376 RCV000726165 RCV001214514 RCV003469244 RCV005600893

NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)

SNV
Germline

Chr2:71561879

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606093

rs_886043901

3 SubmittersRCV000592091 RCV005090385

NM_001130987.2(DYSF):c.378G>T (p.Pro126=)

SNV
Germline

Chr2:71511839

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705342

rs_377056951

4 SubmittersRCV000292028 RCV001087400 RCV003940055

NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)

SNV
Germline

Chr2:71659026

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707164

rs_772664716

6 SubmittersRCV000647992 RCV000726189 RCV001271547

NM_001130987.2(DYSF):c.5934C>A (p.Ala1978=)

SNV
Germline

Chr2:71679106

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606158

rs_886043955

2 SubmittersRCV000406225 RCV001495071

NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)

SNV
Germline

Chr2:71611593

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706914

rs_774464702

3 SubmittersRCV000301701 RCV001087439 RCV003977802

NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)

SNV
Germline

Chr2:71612740

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706966

rs_377706756

5 SubmittersRCV000358891 RCV001140902 RCV001833383

NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)

SNV
Germline

Chr2:71664407

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707253

rs_141137410

10 SubmittersRCV000388999 RCV000493108 RCV000986770 RCV001079670 RCV001526431

NM_001130987.2(DYSF):c.2865-2A>C

SNV
Germline

Chr2:71569818

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606168

rs_886043964

5 SubmittersRCV000368085 RCV000594701 RCV003574727 RCV004999238

NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)

SNV
Germline

Chr2:71669608

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606170

rs_886043966

5 SubmittersRCV000371436 RCV003574728 RCV003469245 RCV004999239

NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr)

SNV
Germline

Chr2:71664414

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA10606239

rs_753279446

3 SubmittersRCV000370944 RCV002518057 RCV005025437

NM_001130987.2(DYSF):c.2070C>T (p.Ile690=)

SNV
Germline

Chr2:71553892

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706034

rs_746480529

2 SubmittersRCV000381106 RCV001081408

NM_001130987.2(DYSF):c.799G>A (p.Val267Met)

SNV
Germline

Chr2:71515662

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705466

rs_750724439

7 SubmittersRCV000363052 RCV000557862 RCV001273970

NM_001130987.2(DYSF):c.432G>A (p.Pro144=)

SNV
Germline

Chr2:71511893

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705349

rs_542176164

3 SubmittersRCV000387377 RCV001828264 RCV001510878

NM_001130987.2(DYSF):c.2864+5G>A

SNV
Germline

Chr2:71568343

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Reviewed By Expert Panel

CA10606385

rs_886044131

6 SubmittersRCV000342909 RCV000668205 RCV004567837 RCV005864471 RCV000647998

NM_001130987.2(DYSF):c.127G>A (p.Val43Met)

SNV
Germline

Chr2:71480918

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705230

rs_374203339

7 SubmittersRCV000536797 RCV000711545 RCV001835762 RCV005895875

NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)

SNV
Germline

Chr2:71556060

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706081

rs_754177085

4 SubmittersRCV001139896 RCV000322931 RCV003930171

NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)

SNV
Germline

Chr2:71551625

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705911

rs_767415886

4 SubmittersRCV000389310 RCV000726337 RCV001271778 RCV001850449

NM_001130987.2(DYSF):c.1276+5G>A

SNV
Germline

Chr2:71526351

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Pancreatic adenocarcinoma
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705673

rs_766433603

11 SubmittersRCV000675165 RCV000726343 RCV001048102 RCV003463775 RCV004751442 RCV005033847 RCV005895877 RCV005600895

NM_001130987.2(DYSF):c.1080C>T (p.Asp360=)

SNV
Germline

Chr2:71520835

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606485

rs_886044211

2 SubmittersRCV000331214 RCV002519322

NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)

SNV
Germline

Chr2:71669190

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707450

rs_577921112

6 SubmittersRCV000283009 RCV000726377 RCV001084464 RCV001276865

NM_001130987.2(DYSF):c.847C>A (p.Arg283=)

SNV
Germline

Chr2:71515710

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705475

rs_769180834

2 SubmittersRCV000306206 RCV003736689

NM_001130987.2(DYSF):c.4126G>A (p.Val1376Met)

SNV
Germline

Chr2:71611531

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706898

rs_760627822

3 SubmittersRCV000266054 RCV002518100

NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)

SNV
Germline

Chr2:71669704

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1707484

rs_769289729

6 SubmittersRCV000726394 RCV001083266 RCV003910034 RCV005434770

NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

SNV
Germline

Chr2:71611511

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706892

rs_139529811

7 SubmittersRCV000726406 RCV001086957 RCV001271534 RCV003910035

NM_001130987.2(DYSF):c.3228+7C>T

SNV
Germline

Chr2:71570748

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706463

rs_534331009

4 SubmittersRCV000386995 RCV001088534 RCV001272825

NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)

SNV
Germline

Chr2:71658996

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707161

rs_538781815

6 SubmittersRCV000287690 RCV001062505 RCV001271546 RCV002518115 RCV004549620

NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)

SNV
Germline

Chr2:71539181

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705798

rs_34387018

4 SubmittersRCV000335708 RCV001084714 RCV001828273

NM_001130987.2(DYSF):c.*107T>A

SNV
Germline

Chr2:71686599

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606673

rs_11903223

5 SubmittersRCV000351649 RCV000986771 RCV001138535 RCV001723875

NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)

SNV
Germline

Chr2:71556014

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706069

rs_775539496

6 SubmittersRCV000304844 RCV000726444 RCV000804560 RCV001279899

NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)

SNV
Germline

Chr2:71660630

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707202

rs_144383140

7 SubmittersRCV000348647 RCV001240482 RCV001833403 RCV002494891 RCV005562332

NM_001130987.2(DYSF):c.888+1G>A

SNV
Germline

Chr2:71515752

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606682

rs_886044377

6 SubmittersRCV000597496 RCV000726446 RCV002518120 RCV003469247 RCV005864474

NM_001130987.2(DYSF):c.2217-1G>T

SNV
Germline

Chr2:71561751

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606685

rs_886044379

3 SubmittersRCV000382100 RCV001172377 RCV003574729

NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr2:71513919

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA10606688

rs_886044381

5 SubmittersRCV000597870 RCV002519337 RCV004999247 RCV005033853

NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)

SNV
Germline

Chr2:71561792

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706110

rs_202123283

7 SubmittersRCV001082501 RCV001271788 RCV003910038 RCV004975406 RCV000726455

NM_001130987.2(DYSF):c.1668C>A (p.Pro556=)

SNV
Germline

Chr2:71551132

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705881

rs_180970066

2 SubmittersRCV000337954 RCV001078664

NM_001130987.2(DYSF):c.1577-1655C>G

SNV
Germline

Chr2:71549386

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606720

rs_886044410

4 SubmittersRCV000404144 RCV002518128 RCV003463777 RCV005864475

NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

SNV
Germline

Chr2:71613408

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606721

rs_886044411

7 SubmittersRCV000306643 RCV000726457 RCV003463778 RCV003736690 RCV005025440 RCV006445657

NM_001130987.2(DYSF):c.2217-2A>G

SNV
Germline

Chr2:71561750

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706103

rs_747289205

5 SubmittersRCV000326270 RCV000726460 RCV001859714 RCV006445658

NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)

SNV
Germline

Chr2:71665187

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10606735

rs_886044422

4 SubmittersRCV000291296 RCV000726461 RCV001859715 RCV004567838

NM_001130987.2(DYSF):c.3476C>T (p.Thr1159Met)

SNV
Germline

Chr2:71589666

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706576

rs_140058659

4 SubmittersRCV000398537 RCV002518140

NM_001130987.2(DYSF):c.759G>C (p.Gln253His)

SNV
Germline

Chr2:71513921

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606797

rs_886044472

2 SubmittersRCV000333472 RCV000812750

NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)

SNV
Germline

Chr2:71590215

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706609

rs_138317526

3 SubmittersRCV000348989 RCV001459031 RCV001835771

NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

SNV
Germline

Chr2:71600724

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706705

rs_2303603

8 SubmittersRCV000326858 RCV000517716 RCV000710129 RCV001085630 RCV003957518

NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)

SNV
Germline

Chr2:71611484

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706890

rs_747583441

5 SubmittersRCV000266196 RCV001140152 RCV003380540

NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)

SNV
Germline

Chr2:71568329

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706296

rs_150717638

6 SubmittersRCV000380360 RCV001246606 RCV001833413 RCV002480056

NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)

SNV
Germline

Chr2:71553915

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706038

rs_770228554

3 SubmittersRCV000311911 RCV001139894

NM_001130987.2(DYSF):c.2034G>A (p.Val678=)

SNV
Germline

Chr2:71553856

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706029

rs_138111360

5 SubmittersRCV000726558 RCV001086499 RCV001835773

NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)

SNV
Germline

Chr2:71568294

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706289

rs_373328706

5 SubmittersRCV000726568 RCV001084706 RCV001271797

NM_001130987.2(DYSF):c.2892C>T (p.His964=)

SNV
Germline

Chr2:71569847

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10607002

rs_886044637

2 SubmittersRCV000340463 RCV001410486

NM_001130987.2(DYSF):c.5785-8C>T

SNV
Germline

Chr2:71674189

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707507

rs_201191038

6 SubmittersRCV001276868 RCV005895902 RCV005895901 RCV000348163 RCV001081056

NM_001130987.2(DYSF):c.2424G>T (p.Leu808=)

SNV
Germline

Chr2:71564072

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706174

rs_762226707

2 SubmittersRCV000370148 RCV001083022

NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)

SNV
Germline

Chr2:71574266

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706509

rs_144936357

3 SubmittersRCV000323183 RCV001272828 RCV001089268

NM_001130987.2(DYSF):c.1329C>A (p.Asn443Lys)

SNV
Germline

Chr2:71528350

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705704

rs_143355224

6 SubmittersRCV000313593 RCV004021322 RCV001240422

NM_001130987.2(DYSF):c.6174-9C>T

SNV
Germline

Chr2:71682521

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707635

rs_201070766

8 SubmittersRCV000265268 RCV000726633 RCV001276872 RCV001084824 RCV003940080

NM_001130987.2(DYSF):c.225G>A (p.Thr75=)

SNV
Germline

Chr2:71481956

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705260

rs_200957354

6 SubmittersRCV000591502 RCV000711551 RCV001080690 RCV001276713

NM_001130987.2(DYSF):c.1577-1639G>C

SNV
Germline

Chr2:71549402

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705851

rs_767550929

2 SubmittersRCV001140569

NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)

SNV
Germline

Chr2:71553121

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705978

rs_769518034

3 SubmittersRCV000871697 RCV001271781

NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)

SNV
Germline

Chr2:71611314

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706842

rs_145401010

6 SubmittersRCV000419423 RCV001080538 RCV001272842 RCV001753802

NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)

SNV
Germline

Chr2:71612671

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706942

rs_151268930

10 SubmittersRCV000517870 RCV000727268 RCV001083961 RCV001274832 RCV004751483 RCV005033872

NM_001130987.2(DYSF):c.*267C>G

SNV
Germline

Chr2:71686759

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613918

rs_181677134

3 SubmittersRCV001141099 RCV001590983

NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)

SNV
Germline

Chr2:71513880

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705427

rs_150029218

6 SubmittersRCV000732976 RCV000553818 RCV001276721

NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)

SNV
Germline

Chr2:71526285

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705651

rs_754820811

3 SubmittersRCV001137568 RCV003144228

NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)

SNV
Germline

Chr2:71528308

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705696

rs_769254776

4 SubmittersRCV001139798 RCV001526418 RCV006445874

NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)

SNV
Germline

Chr2:71551713

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705931

rs_546679270

7 SubmittersRCV000665544 RCV000727415 RCV001080579

NM_001130987.2(DYSF):c.2409+14G>A

SNV
Germline

Chr2:71561958

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706141

rs_141170955

3 SubmittersRCV001140669 RCV001697827

NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)

SNV
Germline

Chr2:71589632

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706568

rs_148925399

5 SubmittersRCV000727170 RCV001140788 RCV001276443

NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)

SNV
Germline

Chr2:71611530

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706897

rs_773240314

3 SubmittersRCV000876243 RCV005562345

NM_001130987.2(DYSF):c.1807-10C>T

SNV
Germline

Chr2:71553001

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705960

rs_749361351

2 SubmittersRCV001142423

NM_001130987.2(DYSF):c.4464+7T>C

SNV
Germline

Chr2:71613417

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707013

rs_369949055

4 SubmittersRCV000876154 RCV001274841 RCV003144232

NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)

SNV
Germline

Chr2:71660580

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707193

rs_763309812

2 SubmittersRCV001138429

NM_001130987.2(DYSF):c.558A>G (p.Thr186=)

SNV
Germline

Chr2:71513720

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705379

rs_781732915

2 SubmittersRCV001140453

NM_001130987.2(DYSF):c.1276+13C>T

SNV
Germline

Chr2:71526359

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705676

rs_373530549

2 SubmittersRCV001139797

NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)

SNV
Germline

Chr2:71528391

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705708

rs_146588926

4 SubmittersRCV000705827 RCV001828331 RCV005632375

NM_001130987.2(DYSF):c.1493+13T>C

SNV
Germline

Chr2:71535324

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10616101

rs_886056279

2 SubmittersRCV001140566

NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)

SNV
Germline

Chr2:71551698

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705924

rs_201515915

3 SubmittersRCV001066203 RCV003144229

NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)

SNV
Germline

Chr2:71570674

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706444

rs_770883682

2 SubmittersRCV001140034

NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)

SNV
Germline

Chr2:71644045

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707061

rs_182185801

4 SubmittersRCV001138012 RCV001828334 RCV003144233

NM_001130987.2(DYSF):c.5643-12A>G

SNV
Germline

Chr2:71669593

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707471

rs_375507062

2 SubmittersRCV001142847

NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)

SNV
Germline

Chr2:71679197

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA16604254

rs_1057521141

6 SubmittersRCV000424011 RCV000671182 RCV001861509 RCV003470383 RCV005027488

NM_001130987.2(DYSF):c.92-3T>C

SNV
Germline

Chr2:71480880

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705216

rs_367833503

2 SubmittersRCV000435463 RCV001861586

NM_001130987.2(DYSF):c.3496+14C>T

SNV
Germline

Chr2:71589700

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706582

rs_112034381

3 SubmittersRCV000436262 RCV001140790

NM_001130987.2(DYSF):c.5547-4C>T

SNV
Germline

Chr2:71669108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707434

rs_373098428

4 SubmittersRCV000429925 RCV000945659 RCV001082323

NM_001130987.2(DYSF):c.1985-15G>T

SNV
Germline

Chr2:71553792

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706019

rs_146407633

3 SubmittersRCV000436616 RCV001139893

NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

SNV
Germline

Chr2:71679173

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA16617750

rs_1064794020

6 SubmittersRCV000484686 RCV000537475 RCV000668514 RCV005027543

NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr2:71526343

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347213670

rs_1131691651

3 SubmittersRCV000494297 RCV003574778 RCV006252454

NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

SNV
Germline

Chr2:71612672

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706944

rs_138268837

11 SubmittersRCV000494287 RCV000672486 RCV001085319 RCV001449591

NM_001130987.2(DYSF):c.231G>A (p.Gly77=)

SNV
Germline

Chr2:71481962

Conflicting classifications of pathogenicity

Muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426699550

rs_1553508988

2 SubmittersRCV000501359 RCV003736797

NM_001130987.2(DYSF):c.2864+1G>A

SNV
Germline

Chr2:71568339

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA1706298

rs_199954546

10 SubmittersRCV000512137 RCV001217776 RCV001263253 RCV002286745 RCV005252937 RCV005027592

NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

SNV
Germline

Chr2:71553016

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347218306

rs_1553543506

3 SubmittersRCV000517890 RCV001834663 RCV001382905

NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)

SNV
Germline

Chr2:71570703

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706459

rs_752810646

6 SubmittersRCV000518215 RCV001239622 RCV001834664 RCV003144306 RCV005549984

NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)

SNV
Germline

Chr2:71564157

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706191

rs_371841411

5 SubmittersRCV000523223 RCV001829489 RCV002527605 RCV004023559

NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)

SNV
Germline

Chr2:71590219

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706610

rs_200719174

4 SubmittersRCV000523566 RCV001142639 RCV001829492

NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)

SNV
Germline

Chr2:71598684

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706667

rs_150942486

8 SubmittersRCV000727399 RCV000765698 RCV001272834 RCV001485096 RCV001563734 RCV001563735

NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)

SNV
Germline

Chr2:71656162

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707094

rs_143895253

6 SubmittersRCV000552425 RCV000595695 RCV001507565 RCV001274843 RCV003960357

NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)

SNV
Germline

Chr2:71664411

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707257

rs_138472236

3 SubmittersRCV000532679 RCV001834797 RCV004024174

NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)

SNV
Germline

Chr2:71481888

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216250

rs_1553508863

1 SubmittersRCV000538326

NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)

SNV
Germline

Chr2:71513839

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705412

rs_201980470

3 SubmittersRCV000548747 RCV001829592 RCV005632487

NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)

SNV
Germline

Chr2:71561928

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706135

rs_763456750

5 SubmittersRCV000550765 RCV001274454 RCV001558981 RCV005027652

NM_001130987.2(DYSF):c.2673G>A (p.Gly891=)

SNV
Germline

Chr2:71568058

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706246

rs_530181166

3 SubmittersRCV000591270 RCV001089370

NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)

SNV
Germline

Chr2:71570652

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA347216998

rs_1358370392

5 SubmittersRCV000551403 RCV001272824 RCV003144341 RCV004975662

NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter)

SNV
Germline

Chr2:71644027

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217983

rs_778185705

1 SubmittersRCV000552484

NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)

SNV
Germline

Chr2:71664410

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707255

rs_771735871

3 SubmittersRCV000554512 RCV001508442 RCV001834796

NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)

SNV
Germline

Chr2:71682603

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707654

rs_185617318

4 SubmittersRCV000533199 RCV001755866 RCV001834801

NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)

SNV
Germline

Chr2:71658914

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707145

rs_146213322

6 SubmittersRCV000559661 RCV000732545 RCV004619331

NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)

SNV
Germline

Chr2:71668763

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347221697

rs_1553415109

2 SubmittersRCV000531309 RCV006447386

NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)

SNV
Germline

Chr2:71556022

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706074

rs_182450244

4 SubmittersRCV000547561 RCV000734858 RCV001834789 RCV002506358

NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)

SNV
Germline

Chr2:71660584

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1707194

rs_138357301

6 SubmittersRCV000558437 RCV000592365 RCV001271549 RCV005367398

NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val)

SNV
Germline

Chr2:71669643

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223572

rs_1553416071

1 SubmittersRCV000534201

NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)

SNV
Germline

Chr2:71679193

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347226507

rs_1553420848

3 SubmittersRCV000578874 RCV001853842 RCV002509453

NM_001130987.2(DYSF):c.5785-824C>T

SNV
Germline

Chr2:71673373

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA658795804

rs_1285082850

7 SubmittersRCV000594297 RCV001853996 RCV001731152 RCV003117359 RCV005409681

NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)

SNV
Germline

Chr2:71564158

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706192

rs_748636047

5 SubmittersRCV000596941 RCV000817716 RCV001829634

NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)

SNV
Germline

Chr2:71567978

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706231

rs_200487610

5 SubmittersRCV000593115 RCV000647988 RCV002532373

NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)

SNV
Germline

Chr2:71664324

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347220291

rs_1553412643

5 SubmittersRCV000592288 RCV001867926

NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)

SNV
Germline

Chr2:71574273

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706513

rs_764208388

5 SubmittersRCV000593694 RCV001034781 RCV001276440

NM_001130987.2(DYSF):c.2175G>A (p.Ser725=)

SNV
Germline

Chr2:71556030

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706075

rs_373820597

2 SubmittersRCV000593436 RCV001501865

NM_001130987.2(DYSF):c.240-6T>A

SNV
Germline

Chr2:71503208

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49747925

rs_896011451

2 SubmittersRCV000595053 RCV001501323

NM_001130987.2(DYSF):c.1033+4A>T

SNV
Germline

Chr2:71520212

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA533254958

rs_1397221551

6 SubmittersRCV000594895 RCV001860168 RCV003117360

NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)

SNV
Germline

Chr2:71551712

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1705929

rs_149386446

7 SubmittersRCV000598052 RCV000648023 RCV001274446 RCV001526744

NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)

SNV
Germline

Chr2:71665203

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707293

rs_149408006

5 SubmittersRCV000595675 RCV001243854 RCV001829645

NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)

SNV
Germline

Chr2:71570685

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347217064

rs_1553556116

8 SubmittersRCV000591140 RCV001376861 RCV002271535 RCV003465340 RCV003338676

NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter)

SNV
Germline

Chr2:71600769

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347225281

rs_1553376538

2 SubmittersRCV000594208 RCV003736833

NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)

SNV
Germline

Chr2:71568174

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706267

rs_149979662

3 SubmittersRCV000593326 RCV001085310 RCV001834883

NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)

SNV
Germline

Chr2:71613335

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706997

rs_61746816

4 SubmittersRCV000594283 RCV001082513 RCV001829647

NM_001130987.2(DYSF):c.1449+7C>T

SNV
Germline

Chr2:71535096

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705742

rs_199608017

4 SubmittersRCV000592742 RCV000726939 RCV001088797 RCV004751613

NM_001130987.2(DYSF):c.1692+7C>T

SNV
Germline

Chr2:71551163

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705887

rs_775395972

2 SubmittersRCV000595160 RCV001480083

NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)

SNV
Germline

Chr2:71570689

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706455

rs_754763074

5 SubmittersRCV000592866 RCV001563740 RCV001563742 RCV001563741 RCV001854033

NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)

SNV
Germline

Chr2:71528392

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705709

rs_140667960

3 SubmittersRCV000593047 RCV001087712

NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)

SNV
Germline

Chr2:71528302

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705694

rs_147244033

4 SubmittersRCV000593985 RCV001087072 RCV001449931 RCV003962677

NM_001130987.2(DYSF):c.2226G>A (p.Leu742=)

SNV
Germline

Chr2:71561761

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49740778

rs_145868833

2 SubmittersRCV000593403 RCV001473690

NM_001130987.2(DYSF):c.1041C>A (p.Ala347=)

SNV
Germline

Chr2:71520796

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA426699980

rs_1553525671

3 SubmittersRCV000594500 RCV001503763 RCV005614426

NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)

SNV
Germline

Chr2:71570231

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706362

rs_142404822

7 SubmittersRCV000726965 RCV001081802 RCV001834885 RCV001449654 RCV003927915

NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)

SNV
Germline

Chr2:71513908

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705435

rs_147876220

4 SubmittersRCV000593233 RCV001240944 RCV001834886

NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)

SNV
Germline

Chr2:71515657

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi myopathy
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705463

rs_143053635

7 SubmittersRCV000598072 RCV000792953 RCV001535517 RCV003403397

NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)

SNV
Germline

Chr2:71612713

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706959

rs_774011358

3 SubmittersRCV000596365 RCV001370590 RCV001829658

NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)

SNV
Germline

Chr2:71667420

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707345

rs_545645581

5 SubmittersRCV000665182 RCV000711567 RCV002531059

NM_001130987.2(DYSF):c.906G>A (p.Leu302=)

SNV
Germline

Chr2:71516197

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49761053

rs_916319528

3 SubmittersRCV000597847 RCV001426938

NM_001130987.2(DYSF):c.1577-1663G>A

SNV
Germline

Chr2:71549378

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705843

rs_760021808

2 SubmittersRCV000597726 RCV001401156

NM_001130987.2(DYSF):c.4590C>T (p.Cys1530=)

SNV
Germline

Chr2:71644027

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707057

rs_778185705

2 SubmittersRCV000593138 RCV001415713

NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)

SNV
Germline

Chr2:71528385

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705707

rs_371593605

4 SubmittersRCV000592160 RCV000807941 RCV001276724 RCV005328327

NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)

SNV
Germline

Chr2:71669185

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347223040

rs_1553415622

3 SubmittersRCV000593308 RCV003231652 RCV005601042

NM_001130987.2(DYSF):c.889-2A>G

SNV
Germline

Chr2:71516178

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA49761016

rs_934428561

3 SubmittersRCV000594160 RCV001378702 RCV005027710

NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)

SNV
Germline

Chr2:71611540

Pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1706900

rs_776472879

4 SubmittersRCV000591033 RCV002491213 RCV003574784 RCV004689806

NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)

SNV
Germline

Chr2:71679110

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347226323

rs_1553420738

2 SubmittersRCV000594534 RCV000798409

NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)

SNV
Germline

Chr2:71612680

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706946

rs_767049254

6 SubmittersRCV000658870 RCV001140901 RCV001196059 RCV006362499

NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter)

SNV
Germline

Chr2:71681076

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347226846

rs_886043489

2 SubmittersRCV000592814 RCV005091572

NM_001130987.2(DYSF):c.3729G>T (p.Val1243=)

SNV
Germline

Chr2:71598718

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426702446

rs_1553375366

2 SubmittersRCV000595494 RCV002532569

NM_003494.4(DYSF):c.4C>T (p.Leu2=)

SNV
Germline

Chr2:71454002

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705168

rs_772536111

4 SubmittersRCV000597186 RCV000727360 RCV001137472

NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)

SNV
Germline

Chr2:71658953

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707154

rs_143163327

3 SubmittersRCV000594913 RCV000797230

NM_001130987.2(DYSF):c.3076G>A (p.Asp1026Asn)

SNV
Germline

Chr2:71570325

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706386

rs_200943384

2 SubmittersRCV000597007 RCV002532608

NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)

SNV
Germline

Chr2:71513727

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705382

rs_151054827

5 SubmittersRCV000593695 RCV000818446 RCV001276719

NM_001130987.2(DYSF):c.1545G>A (p.Ser515=)

SNV
Germline

Chr2:71539208

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705805

rs_755103680

2 SubmittersRCV000591273 RCV001089220

NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)

SNV
Germline

Chr2:71480923

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705231

rs_772240035

6 SubmittersRCV000596018 RCV000814681 RCV001829688 RCV002532670

NM_001130987.2(DYSF):c.1577-10T>C

SNV
Germline

Chr2:71551031

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705866

rs_371967475

3 SubmittersRCV000600271 RCV000734646 RCV001042794

NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)

SNV
Germline

Chr2:71551082

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705873

rs_777489323

5 SubmittersRCV000647986 RCV000765696 RCV001662702 RCV001835043

NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)

SNV
Germline

Chr2:71551651

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705916

rs_370872013

2 SubmittersRCV000735135 RCV001079983

NM_001130987.2(DYSF):c.5317+1G>A

SNV
Germline

Chr2:71665305

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1707318

rs_773386253

5 SubmittersRCV000647996 RCV000669143 RCV000733066 RCV002499105

NM_001130987.2(DYSF):c.5784+10C>T

SNV
Germline

Chr2:71669756

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707492

rs_758268866

2 SubmittersRCV000648037

NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

SNV
Germline

Chr2:71669174

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707445

rs_199649417

4 SubmittersRCV000648015 RCV001276864 RCV002222581 RCV003144430

NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)

SNV
Germline

Chr2:71503254

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705302

rs_759171890

5 SubmittersRCV000647989 RCV001835044 RCV005054235

NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)

SNV
Germline

Chr2:71658989

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707160

rs_571364996

3 SubmittersRCV000648011 RCV001563807 RCV001563809 RCV001563808

NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)

SNV
Germline

Chr2:71503282

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705307

rs_201834175

3 SubmittersRCV000647984 RCV001253301 RCV005632566

NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:71526326

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705662

rs_776036392

3 SubmittersRCV000647995 RCV001835045 RCV003162956

NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)

SNV
Germline

Chr2:71551140

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705883

rs_541663451

4 SubmittersRCV000648014 RCV001829805 RCV003243237 RCV005632567

NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)

SNV
Germline

Chr2:71667421

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707346

rs_531935195

4 SubmittersRCV000647987 RCV001276860 RCV003144428

NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)

SNV
Germline

Chr2:71679080

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707548

rs_144116735

5 SubmittersRCV000648022 RCV001276870 RCV001311193

NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)

SNV
Germline

Chr2:71551635

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1705913

rs_200916654

6 SubmittersRCV000656079 RCV001089586 RCV001220606 RCV005027769

NM_001130987.2(DYSF):c.460+1G>A

SNV
Germline

Chr2:71511922

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347205592

rs_1278864604

5 SubmittersRCV000665139 RCV000694014 RCV005027775

NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr2:71513784

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347207027

rs_1553521017

4 SubmittersRCV000672170 RCV001855574 RCV003459635

NM_001130987.2(DYSF):c.952-2A>G

SNV
Germline

Chr2:71516987

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347210021

rs_1553522730

2 SubmittersRCV000672471 RCV002531316

NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)

SNV
Germline

Chr2:71539207

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347216767

rs_139258703

3 SubmittersRCV000669615 RCV002531232 RCV004568528

NM_001130987.2(DYSF):c.4221+1G>C

SNV
Germline

Chr2:71611627

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347228990

rs_1474151297

2 SubmittersRCV000671253 RCV002531273

NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)

SNV
Germline

Chr2:71656166

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707097

rs_757820496

6 SubmittersRCV000696171 RCV001784229 RCV001810464 RCV003235334 RCV003459566

NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)

SNV
Germline

Chr2:71520871

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347212168

rs_766891289

7 SubmittersRCV000667055 RCV001058931 RCV001784244 RCV003465460 RCV005864522

NM_001130987.2(DYSF):c.1277-2A>C

SNV
Germline

Chr2:71528296

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347214357

rs_1553531682

3 SubmittersRCV000670531 RCV003574799 RCV004568538

NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)

SNV
Germline

Chr2:71564196

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1706198

rs_199543257

3 SubmittersRCV000667000 RCV003574794 RCV004568505

NM_001130987.2(DYSF):c.3897+1G>A

SNV
Germline

Chr2:71600843

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225730

rs_1553376691

2 SubmittersRCV000674149 RCV001386682

NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)

SNV
Germline

Chr2:71611481

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA1706888

rs_757917335

12 SubmittersRCV000671892 RCV001247195 RCV001531487 RCV004568544 RCV004586866 RCV005027813

NM_001130987.2(DYSF):c.5785-1G>C

SNV
Germline

Chr2:71674196

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Lung cancer
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1707512

rs_751473506

6 SubmittersRCV000665467 RCV000823836 RCV003465443 RCV005901440 RCV005034238

NM_003494.4(DYSF):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:71454000

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347205795

rs_1459713589

3 SubmittersRCV000668555 RCV001377517

NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)

SNV
Germline

Chr2:71516996

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347210094

rs_1553522751

5 SubmittersRCV000671651 RCV001244231 RCV003459630 RCV006257312 RCV006448564

NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)

SNV
Germline

Chr2:71520816

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705600

rs_768546511

5 SubmittersRCV000666238 RCV001235470 RCV003465449 RCV006448561

NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)

SNV
Germline

Chr2:71598644

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347223890

rs_1380642629

3 SubmittersRCV000673436 RCV003465528 RCV003574802

NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

SNV
Germline

Chr2:71611329

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA49778670

rs_778092738

3 SubmittersRCV000669562 RCV001089589 RCV001868234

NM_001130987.2(DYSF):c.4528-2A>G

SNV
Germline

Chr2:71643963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347217740

rs_1213965862

4 SubmittersRCV000665741 RCV001256195 RCV001784234

NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)

SNV
Germline

Chr2:71664366

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
not specified
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707245

rs_143059463

6 SubmittersRCV000670528 RCV001247777 RCV001507566 RCV002271559 RCV002477502

NM_001130987.2(DYSF):c.5174+2T>C

SNV
Germline

Chr2:71664440

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347220710

rs_1553412826

3 SubmittersRCV000673134 RCV003574801 RCV003459640

NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)

SNV
Germline

Chr2:71682607

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347227214

rs_1553422709

3 SubmittersRCV000666916 RCV003465457 RCV003767952

NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)

SNV
Germline

Chr2:71517029

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA347210280

rs_1258728780

4 SubmittersRCV000667928 RCV001067569 RCV002469246

NM_001130987.2(DYSF):c.1493+1G>A

SNV
Germline

Chr2:71535312

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215841

rs_1553536007

2 SubmittersRCV000670424 RCV001061856

NM_001130987.2(DYSF):c.1577-2A>G

SNV
Germline

Chr2:71551039

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217280

rs_1553542142

2 SubmittersRCV000667216 RCV003574795

NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)

SNV
Germline

Chr2:71570277

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1706376

rs_750028300

5 SubmittersRCV000666237 RCV000763506 RCV003465448 RCV004689834 RCV005091928

NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

SNV
Germline

Chr2:71600804

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1706733

rs_763674597

4 SubmittersRCV000674515 RCV001784295 RCV001855610 RCV003459646

NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

SNV
Germline

Chr2:71664414

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707259

rs_753279446

5 SubmittersRCV000668653 RCV002507163 RCV002532078 RCV003459599 RCV005401566

NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)

SNV
Germline

Chr2:71669122

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347222104

rs_1280185461

5 SubmittersRCV000673454 RCV001141004 RCV006452825 RCV006556526

NM_001130987.2(DYSF):c.5784+1G>A

SNV
Germline

Chr2:71669747

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA49769333

rs_909564120

4 SubmittersRCV000669228 RCV003459608 RCV003736882

NM_001130987.2(DYSF):c.5885-1G>C

SNV
Germline

Chr2:71679056

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707541

rs_771257070

4 SubmittersRCV000670990 RCV002532106 RCV003465504 RCV006252460

NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

SNV
Germline

Chr2:71682669

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707668

rs_746663568

7 SubmittersRCV000673203 RCV001035887 RCV003144473 RCV003465524 RCV005240445

NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)

SNV
Germline

Chr2:71564154

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706189

rs_749002214

4 SubmittersRCV000690013 RCV000997160 RCV001825341

NM_001130987.2(DYSF):c.5210C>G (p.Pro1737Arg)

SNV
Germline

Chr2:71665197

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707292

rs_776452710

2 SubmittersRCV000687119 RCV003144489

NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)

SNV
Germline

Chr2:71665254

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49767324

rs_957111625

5 SubmittersRCV000695255 RCV001274106 RCV002493198 RCV003163191 RCV005641783

NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)

SNV
Germline

Chr2:71564074

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49742304

rs_121908956

2 SubmittersRCV000685812 RCV003144484

NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)

SNV
Germline

Chr2:71598730

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347224324

rs_375160101

1 SubmittersRCV000697485

NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr2:71511822

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347205400

rs_1423123313

1 SubmittersRCV000687636

NM_001130987.2(DYSF):c.1003-2A>G

SNV
Germline

Chr2:71520176

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347211410

rs_1559065297

1 SubmittersRCV000685236

NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)

SNV
Germline

Chr2:71612775

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706973

rs_368451006

3 SubmittersRCV000690467 RCV001274839

NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)

SNV
Germline

Chr2:71549377

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705842

rs_144931729

4 SubmittersRCV000706854 RCV000711549 RCV001271777 RCV002534470

NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)

SNV
Germline

Chr2:71600781

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706720

rs_202013788

4 SubmittersRCV000707469 RCV001830568 RCV003144573 RCV005821765

NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)

SNV
Germline

Chr2:71659031

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347219916

rs_1558750788

1 SubmittersRCV000696956

NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)

SNV
Germline

Chr2:71664350

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220391

rs_368142107

1 SubmittersRCV000695893

NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter)

SNV
Germline

Chr2:71669686

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223854

rs_1558787893

1 SubmittersRCV000693077

NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)

SNV
Germline

Chr2:71568218

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1706275

rs_769739410

7 SubmittersRCV000711553 RCV001048828 RCV001830577 RCV002532913 RCV003330916

NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)

SNV
Germline

Chr2:71568295

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706290

rs_747089235

4 SubmittersRCV000711555 RCV001825419 RCV006629191

NM_001130987.2(DYSF):c.4060-7T>A

SNV
Germline

Chr2:71611458

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706885

rs_753614306

4 SubmittersRCV000711559 RCV000815486 RCV001271532

NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)

SNV
Germline

Chr2:71682668

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707667

rs_549673939

3 SubmittersRCV000729231 RCV001087446 RCV001276876

NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)

SNV
Germline

Chr2:71656247

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707110

rs_144422408

4 SubmittersRCV000729424 RCV001243182 RCV001825453

NM_001130987.2(DYSF):c.4755+8C>T

SNV
Germline

Chr2:71656298

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA533262265

rs_1278005040

2 SubmittersRCV000729525 RCV001432031

NM_001130987.2(DYSF):c.5716T>A (p.Phe1906Ile)

SNV
Germline

Chr2:71669678

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347223803

rs_1558787823

2 SubmittersRCV000729826 RCV006464116

NM_001130987.2(DYSF):c.1716C>T (p.Gly572=)

SNV
Germline

Chr2:71551630

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426701202

rs_1559138079

2 SubmittersRCV000730006 RCV002060987

NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)

SNV
Germline

Chr2:71611325

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706845

rs_751571463

2 SubmittersRCV000730010 RCV001396629

NM_001130987.2(DYSF):c.3741C>T (p.Tyr1247=)

SNV
Germline

Chr2:71598730

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706678

rs_375160101

2 SubmittersRCV000730463 RCV001432731

NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)

SNV
Germline

Chr2:71667485

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1707359

rs_763198861

4 SubmittersRCV000730669 RCV001089213 RCV003965525 RCV006436893

NM_001130987.2(DYSF):c.4260C>T (p.Thr1420=)

SNV
Germline

Chr2:71612679

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706945

rs_547886773

2 SubmittersRCV000731460 RCV001497591

NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)

SNV
Germline

Chr2:71535046

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705730

rs_376358025

4 SubmittersRCV000731709 RCV000802202 RCV001830617 RCV002535234

NM_001130987.2(DYSF):c.3501G>T (p.Gly1167=)

SNV
Germline

Chr2:71590215

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706608

rs_138317526

2 SubmittersRCV000731716 RCV002535235

NM_001130987.2(DYSF):c.240-5C>T

SNV
Germline

Chr2:71503209

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA913189576

rs_1559021086

2 SubmittersRCV000731980 RCV001088790

NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)

SNV
Germline

Chr2:71611554

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706905

rs_566381009

3 SubmittersRCV000732770 RCV001089056

NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)

SNV
Germline

Chr2:71511856

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705343

rs_775881095

5 SubmittersRCV000732785 RCV001139687 RCV002535291

NM_001130987.2(DYSF):c.1654G>A (p.Gly552Ser)

SNV
Germline

Chr2:71551118

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705878

rs_780677692

2 SubmittersRCV000732902 RCV002535298

NM_001130987.2(DYSF):c.1053G>A (p.Lys351=)

SNV
Germline

Chr2:71520808

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705597

rs_778686949

2 SubmittersRCV000732913 RCV001422916

NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)

SNV
Germline

Chr2:71520895

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705613

rs_373744398

5 SubmittersRCV000733000 RCV001422852 RCV003892654

NM_001130987.2(DYSF):c.6210A>G (p.Pro2070=)

SNV
Germline

Chr2:71682566

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426704901

rs_372244975

2 SubmittersRCV000733503 RCV001470274

NM_001130987.2(DYSF):c.5223C>T (p.Leu1741=)

SNV
Germline

Chr2:71665210

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426704042

rs_1558771751

2 SubmittersRCV000733641 RCV001444642

NM_001130987.2(DYSF):c.5784+8T>C

SNV
Germline

Chr2:71669754

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA913189344

rs_1558788338

2 SubmittersRCV000733648 RCV002535344

NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)

SNV
Germline

Chr2:71611333

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706848

rs_61742872

4 SubmittersRCV000733708 RCV001247790 RCV001830635

NM_001130987.2(DYSF):c.5884+1G>A

SNV
Germline

Chr2:71674297

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA49771597

rs_756689063

5 SubmittersRCV000733869 RCV000809651 RCV002290000 RCV003465667

NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)

SNV
Germline

Chr2:71511811

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705338

rs_199677396

5 SubmittersRCV000733873 RCV001038268 RCV001273962 RCV002536504

NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)

SNV
Germline

Chr2:71574330

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347218361

rs_1558513494

4 SubmittersRCV000734038 RCV003574807 RCV004569419

NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)

SNV
Germline

Chr2:71570686

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA1706453

rs_372226487

3 SubmittersRCV000734072 RCV001855799 RCV004768624

NM_001130987.2(DYSF):c.5610G>A (p.Thr1870=)

SNV
Germline

Chr2:71669175

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707446

rs_759960173

2 SubmittersRCV000734109 RCV001490952

NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)

SNV
Germline

Chr2:71590242

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706617

rs_770648429

4 SubmittersRCV000734455 RCV000795781 RCV001830640 RCV005821773

NM_001130987.2(DYSF):c.1197C>T (p.Asn399=)

SNV
Germline

Chr2:71526267

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705645

rs_781380886

2 SubmittersRCV000734636 RCV001409217

NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)

SNV
Germline

Chr2:71669673

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347223773

rs_1024524968

3 SubmittersRCV000786071 RCV003144580 RCV003736901

NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp)

SNV
Germline

Chr2:71611582

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706911

rs_368601323

2 SubmittersRCV000762272 RCV001855711

NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)

SNV
Germline

Chr2:71658980

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707158

rs_752946123

4 SubmittersRCV000778625 RCV002477780 RCV003230588 RCV005633675

NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)

SNV
Germline

Chr2:71515659

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347208440

rs_1573657614

1 SubmittersRCV000808963

NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)

SNV
Germline

Chr2:71551688

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705922

rs_376932915

6 SubmittersRCV000815952 RCV001830788 RCV001664434 RCV004619428

NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)

SNV
Germline

Chr2:71553927

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706040

rs_749488054

4 SubmittersRCV000807551 RCV001825603 RCV003145159

NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)

SNV
Germline

Chr2:71564133

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706187

rs_562925562

3 SubmittersRCV000822206 RCV001274455 RCV003353063

NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)

SNV
Germline

Chr2:71569839

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706322

rs_535367520

4 SubmittersRCV000793819 RCV001271799 RCV003144591 RCV005550045

NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)

SNV
Germline

Chr2:71570631

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706433

rs_762486621

3 SubmittersRCV000799347 RCV001830718 RCV002487681

NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)

SNV
Germline

Chr2:71600750

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706711

rs_753817458

4 SubmittersRCV000796223 RCV001507562 RCV001272837

NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)

SNV
Germline

Chr2:71611344

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
DYSF-related disorder

Reviewed By Expert Panel

CA1706854

rs_758993965

10 SubmittersRCV000812166 RCV001089590 RCV001830775 RCV003461204 RCV005253143 RCV005870901

NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)

SNV
Germline

Chr2:71611558

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347228576

rs_1574340403

2 SubmittersRCV000801537 RCV003461132

NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)

SNV
Germline

Chr2:71613369

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707003

rs_367709130

4 SubmittersRCV000824074 RCV001271539 RCV001766755 RCV002538195

NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)

SNV
Germline

Chr2:71613390

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347229643

rs_1574354515

2 SubmittersRCV000824113 RCV001830826

NM_001130987.2(DYSF):c.5000G>T (p.Gly1667Val)

SNV
Germline

Chr2:71660648

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220124

rs_1573020369

1 SubmittersRCV000815299

NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)

SNV
Germline

Chr2:71665163

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347220902

rs_1573060017

2 SubmittersRCV000824068 RCV005253649

NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)

SNV
Germline

Chr2:71665262

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707308

rs_757240900

3 SubmittersRCV000796972 RCV001830714 RCV003489878

NM_001130987.2(DYSF):c.1807-13T>C

SNV
Germline

Chr2:71552998

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705958

rs_756387775

3 SubmittersRCV000826986 RCV001142422

NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)

SNV
Germline

Chr2:71561922

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706133

rs_185891286

3 SubmittersRCV000876867 RCV001271792 RCV001772165

NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)

SNV
Germline

Chr2:71574290

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49749680

rs_945602962

2 SubmittersRCV000876566

NM_001130987.2(DYSF):c.1449+3G>A

SNV
Germline

Chr2:71535092

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705740

rs_764771218

3 SubmittersRCV000874517 RCV001276727 RCV003145218

NM_001130987.2(DYSF):c.5458-5C>T

SNV
Germline

Chr2:71668749

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707395

rs_780391061

3 SubmittersRCV000872858 RCV001276861 RCV002064714

NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)

SNV
Germline

Chr2:71569892

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706334

rs_192717273

3 SubmittersRCV000953941 RCV001271800

NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)

SNV
Germline

Chr2:71612760

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706969

rs_144072850

3 SubmittersRCV000960106 RCV001274837

NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)

SNV
Germline

Chr2:71613407

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707011

rs_751456837

3 SubmittersRCV000895370 RCV001274840

NM_001130987.2(DYSF):c.4059+7C>T

SNV
Germline

Chr2:71611353

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA1706857

rs_562567295

3 SubmittersRCV000904463 RCV005432489

NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)

SNV
Germline

Chr2:71682677

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707670

rs_139267208

3 SubmittersRCV000912278 RCV001276877 RCV005865424

NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)

SNV
Germline

Chr2:71553130

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705979

rs_550180529

3 SubmittersRCV000930776 RCV001271782

NM_001130987.2(DYSF):c.4806C>T (p.Pro1602=)

SNV
Germline

Chr2:71658928

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707150

rs_774070544

2 SubmittersRCV001452961 RCV005633779

NM_001130987.2(DYSF):c.554-8C>T

SNV
Germline

Chr2:71513708

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA892709605

rs_1257627361

2 SubmittersRCV001140452

NM_001130987.2(DYSF):c.5547-1G>C

SNV
Germline

Chr2:71669111

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347222051

rs_1573094617

2 SubmittersRCV000991934 RCV001869370

NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr2:71515713

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347208767

rs_1573658295

3 SubmittersRCV001004963 RCV003736956 RCV006250903

NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)

SNV
Germline

Chr2:71613375

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707005

rs_767788624

2 SubmittersRCV001004986 RCV002551719

NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)

SNV
Germline

Chr2:71658944

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347219737

rs_1573009747

3 SubmittersRCV001004961 RCV001862745 RCV005864540

NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)

SNV
Germline

Chr2:71669689

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347223875

rs_1336670524

2 SubmittersRCV001004987 RCV001860571

NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)

SNV
Germline

Chr2:71679093

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347226288

rs_1573176526

3 SubmittersRCV001004960 RCV003574818

NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)

SNV
Germline

Chr2:71517028

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA49761605

rs_121908963

2 SubmittersRCV001038919 RCV006252476

NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter)

SNV
Germline

Chr2:71553169

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347218736

rs_759841019

2 SubmittersRCV001038949 RCV005029589

NM_001130987.2(DYSF):c.2442G>A (p.Trp814Ter)

SNV
Germline

Chr2:71564090

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347211234

rs_2091945455

1 SubmittersRCV001071497

NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)

SNV
Germline

Chr2:71570235

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347216336

rs_2092340623

2 SubmittersRCV001054582 RCV003467777

NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu)

SNV
Germline

Chr2:71570661

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217018

rs_2092366383

1 SubmittersRCV001038453

NM_001130987.2(DYSF):c.3756T>A (p.Tyr1252Ter)

SNV
Germline

Chr2:71598745

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347224358

rs_141720146

1 SubmittersRCV001063313

NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)

SNV
Germline

Chr2:71602791

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706803

rs_535831045

4 SubmittersRCV001056589 RCV001272841 RCV003145310 RCV005809421

NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser)

SNV
Germline

Chr2:71611598

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA347228816

rs_2093763492

2 SubmittersRCV001071496 RCV004702629

NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)

SNV
Germline

Chr2:71612667

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA49779889

rs_971134497

4 SubmittersRCV001043809 RCV001827266 RCV004570145 RCV006437000

NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)

SNV
Germline

Chr2:71613401

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707009

rs_758226677

3 SubmittersRCV001043044 RCV001277417 RCV002551526

NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)

SNV
Germline

Chr2:71665193

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707288

rs_758206608

3 SubmittersRCV001035975 RCV001827215 RCV005550093

NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)

SNV
Germline

Chr2:71665214

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707296

rs_575920691

3 SubmittersRCV001068212 RCV001274851 RCV006279347

NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)

SNV
Germline

Chr2:71665298

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347221184

rs_762398889

3 SubmittersRCV001058448 RCV003467792 RCV003152748

NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp)

SNV
Germline

Chr2:71681062

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347226819

rs_1395588065

2 SubmittersRCV001064810 RCV001836103

NM_001130987.2(DYSF):c.148-1G>A

SNV
Germline

Chr2:71481878

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216207

rs_2082940446

1 SubmittersRCV001062232

NM_001130987.2(DYSF):c.1002+4A>G

SNV
Germline

Chr2:71517043

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA49761619

rs_905322985

4 SubmittersRCV001072066 RCV001828532 RCV002480447 RCV003462626

NM_001130987.2(DYSF):c.1003-3C>A

SNV
Germline

Chr2:71520175

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Reviewed By Expert Panel

CA426699920

rs_2087101244

4 SubmittersRCV001064001 RCV006252477 RCV005633864

NM_001130987.2(DYSF):c.1806+2T>G

SNV
Germline

Chr2:71551722

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217834

rs_2090962038

1 SubmittersRCV001038452

NM_001130987.2(DYSF):c.4387+2T>C

SNV
Germline

Chr2:71612808

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1706981

rs_759939755

3 SubmittersRCV001040069 RCV003467720 RCV005036314

NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)

SNV
Germline

Chr2:71526331

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA49771569

rs_778673716

7 SubmittersRCV001089584 RCV001862659 RCV003339470 RCV005614489

NM_001130987.2(DYSF):c.2707G>T (p.Glu903Ter)

SNV
Germline

Chr2:71568181

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA49744793

rs_770997582

2 SubmittersRCV001089588 RCV003736973

NM_003494.4(DYSF):c.-327G>T

SNV
Germline

Chr2:71453672

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49734132

rs_535087290

2 SubmittersRCV001142214 RCV003425949

NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)

SNV
Germline

Chr2:71503311

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705312

rs_753922932

3 SubmittersRCV001139685 RCV003918724

NM_001130987.2(DYSF):c.405G>A (p.Pro135=)

SNV
Germline

Chr2:71511866

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49756490

rs_973059586

2 SubmittersRCV001139689

NM_001130987.2(DYSF):c.603G>A (p.Glu201=)

SNV
Germline

Chr2:71513765

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705390

rs_765064954

2 SubmittersRCV001140454

NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)

SNV
Germline

Chr2:71528395

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705711

rs_771092045

2 SubmittersRCV001139799

NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)

SNV
Germline

Chr2:71561935

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706138

rs_757613811

3 SubmittersRCV001140668 RCV002292611

NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)

SNV
Germline

Chr2:71564082

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706178

rs_371609233

6 SubmittersRCV001140670 RCV001828567 RCV001541058 RCV004032709

NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)

SNV
Germline

Chr2:71570321

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA426702034

rs_2092344930

2 SubmittersRCV001140033

NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)

SNV
Germline

Chr2:71669179

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707448

rs_201592500

3 SubmittersRCV001141005 RCV003145356

NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp)

SNV
Germline

Chr2:71682610

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707657

rs_1271141178

2 SubmittersRCV001138101

NM_001130987.2(DYSF):c.1985-15G>A

SNV
Germline

Chr2:71553792

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706020

rs_146407633

2 SubmittersRCV001137672

NM_001130987.2(DYSF):c.3402+11C>G

SNV
Germline

Chr2:71574382

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706537

rs_780844859

2 SubmittersRCV001140787

NM_001130987.2(DYSF):c.1567G>T (p.Glu523Ter)

SNV
Germline

Chr2:71539230

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216834

rs_2089684117

1 SubmittersRCV001215690

NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)

SNV
Germline

Chr2:71570262

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706372

rs_763925689

3 SubmittersRCV001215611 RCV001833880 RCV005328600

NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr2:71567953

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347213004

rs_2092204417

3 SubmittersRCV001207233 RCV001776143 RCV001263672

NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg)

SNV
Germline

Chr2:71600801

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225521

rs_2093531900

1 SubmittersRCV001207234

NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)

SNV
Germline

Chr2:71613384

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707007

rs_765027886

3 SubmittersRCV001211296 RCV001833852 RCV003145388

NM_001130987.2(DYSF):c.2697+1G>C

SNV
Germline

Chr2:71568083

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347214076

rs_140108514

2 SubmittersRCV001205457 RCV004998721

NM_001130987.2(DYSF):c.2697+5G>C

SNV
Germline

Chr2:71568087

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA1139657082

rs_2092213253

1 SubmittersRCV001208442

NM_001130987.2(DYSF):c.3228+1G>A

SNV
Germline

Chr2:71570742

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347217178

rs_2092371566

2 SubmittersRCV001201509 RCV005614494

NM_001130987.2(DYSF):c.3575-1G>A

SNV
Germline

Chr2:71598563

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223208

rs_2093462674

1 SubmittersRCV001221399

NM_001130987.2(DYSF):c.5004-2A>G

SNV
Germline

Chr2:71664266

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220141

rs_2094956322

1 SubmittersRCV001220247

NM_001130987.2(DYSF):c.5546+1G>A

SNV
Germline

Chr2:71668843

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347222009

rs_398123793

1 SubmittersRCV001220119

NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg)

SNV
Germline

Chr2:71480930

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216094

rs_2082832384

1 SubmittersRCV001235835

NM_001130987.2(DYSF):c.247G>A (p.Gly83Arg)

SNV
Germline

Chr2:71503221

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA1705295

rs_780227798

1 SubmittersRCV001234543

NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)

SNV
Germline

Chr2:71555980

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA49797983

rs_756258757

5 SubmittersRCV001237372 RCV003469441 RCV005036518 RCV006249722

NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)

SNV
Germline

Chr2:71568028

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706239

rs_146153109

3 SubmittersRCV001231055 RCV001834003 RCV004978164

NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser)

SNV
Germline

Chr2:71669691

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223886

rs_2095084796

1 SubmittersRCV001235799

NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)

SNV
Germline

Chr2:71480889

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705218

rs_539484245

4 SubmittersRCV001244563 RCV001829933 RCV003145481 RCV005550223

NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)

SNV
Germline

Chr2:71513754

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705388

rs_142265349

4 SubmittersRCV001243658 RCV001835179 RCV003145476 RCV004978193

NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)

SNV
Germline

Chr2:71551130

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705879

rs_749866053

3 SubmittersRCV001245099 RCV001835223 RCV004619584

NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)

SNV
Germline

Chr2:71553890

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706032

rs_367901920

4 SubmittersRCV001244179 RCV001760277 RCV001829922

NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)

SNV
Germline

Chr2:71574208

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706492

rs_562368641

4 SubmittersRCV001244059 RCV001836227 RCV003166527 RCV003490155

NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)

SNV
Germline

Chr2:71612778

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706975

rs_371816429

3 SubmittersRCV001239752 RCV001664773 RCV001828935

NM_001130987.2(DYSF):c.2980-1G>C

SNV
Germline

Chr2:71570228

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216304

rs_2092340224

1 SubmittersRCV001232094

NM_001130987.2(DYSF):c.3957+2T>G

SNV
Germline

Chr2:71602807

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347226682

rs_1553377764

2 SubmittersRCV001246686 RCV003469475

NM_001130987.2(DYSF):c.147+1G>A

SNV
Germline

Chr2:71480939

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216132

rs_2082833010

2 SubmittersRCV001249863 RCV003574861

NM_001130987.2(DYSF):c.5547-2A>G

SNV
Germline

Chr2:71669110

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347222046

rs_1238293747

4 SubmittersRCV001256196 RCV002272435 RCV005409791

NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)

SNV
Germline

Chr2:71570284

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216541

rs_2092343409

2 SubmittersRCV001263963 RCV003574867

NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)

SNV
Germline

Chr2:71574222

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347218012

rs_1252415299

3 SubmittersRCV001263966 RCV001880071 RCV003462841

NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)

SNV
Germline

Chr2:71613360

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA49780605

rs_576130413

5 SubmittersRCV001264130 RCV001389481 RCV003226456 RCV004570655

NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)

SNV
Germline

Chr2:71660628

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347220083

rs_2094861411

2 SubmittersRCV001264132 RCV002541614

NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr2:71481907

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705249

rs_566595009

3 SubmittersRCV001303550 RCV001830198 RCV002070129

NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn)

SNV
Germline

Chr2:71569929

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706341

rs_200422222

4 SubmittersRCV001309352 RCV001507561 RCV001836285

NM_001130987.2(DYSF):c.3086-2A>G

SNV
Germline

Chr2:71570597

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216880

rs_2092361815

1 SubmittersRCV001379579

NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)

SNV
Germline

Chr2:71665175

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347220924

rs_1476505138

3 SubmittersRCV001908555 RCV003146308 RCV005023377

NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)

SNV
Germline

Chr2:71589636

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49761609

rs_959125009

4 SubmittersRCV001344867 RCV001831109 RCV004036438 RCV003145594

NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)

SNV
Germline

Chr2:71551616

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705910

rs_771062534

3 SubmittersRCV001364685 RCV001826032 RCV003145621

NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro)

SNV
Germline

Chr2:71656171

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347219314

rs_2094765878

5 SubmittersRCV001367502 RCV001831276 RCV005409815 RCV005409814 RCV005634115

NM_001130987.2(DYSF):c.345+2T>C

SNV
Germline

Chr2:71503321

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347204691

rs_2152715847

1 SubmittersRCV001379521

NM_001130987.2(DYSF):c.3574+1G>A

SNV
Germline

Chr2:71590289

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220889

rs_2152843484

1 SubmittersRCV001377377

NM_001130987.2(DYSF):c.5785-2A>C

SNV
Germline

Chr2:71674195

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347224809

rs_2152961243

1 SubmittersRCV001379869

NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)

SNV
Germline

Chr2:71454022

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347205987

rs_2080944539

3 SubmittersRCV001388527 RCV001780363 RCV003469742

NM_001130987.2(DYSF):c.1380+1G>C

SNV
Germline

Chr2:71528402

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215093

rs_2152751353

1 SubmittersRCV001386529

NM_001130987.2(DYSF):c.1984+2T>C

SNV
Germline

Chr2:71553190

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218782

rs_2152791033

1 SubmittersRCV001387635

NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr2:71567990

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347213314

rs_780129376

2 SubmittersRCV001389285 RCV003469755

NM_001130987.2(DYSF):c.2624G>A (p.Trp875Ter)

SNV
Germline

Chr2:71568009

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347213506

rs_2152811000

1 SubmittersRCV001384842

NM_001130987.2(DYSF):c.3883A>C (p.Ile1295Leu)

SNV
Germline

Chr2:71600828

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706740

rs_555343068

2 SubmittersRCV001401897 RCV003145658

NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys)

SNV
Germline

Chr2:71515748

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705488

rs_201550600

2 SubmittersRCV001431894 RCV006437062

NM_001130987.2(DYSF):c.5107G>A (p.Val1703Ile)

SNV
Germline

Chr2:71664371

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707248

rs_747210644

2 SubmittersRCV001507567 RCV001859342

NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)

SNV
Germline

Chr2:71598726

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA347224316

rs_2152855991

3 SubmittersRCV001873812 RCV001814396 RCV002290717

NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)

SNV
Germline

Chr2:71669680

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347223820

rs_1233961202

3 SubmittersRCV001542524 RCV005914903 RCV002568950

NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)

SNV
Germline

Chr2:71556047

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706077

rs_570860273

4 SubmittersRCV001563902 RCV001563903 RCV001563944 RCV002488382 RCV002573185 RCV003146217

NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)

SNV
Germline

Chr2:71664422

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707262

rs_753176482

2 SubmittersRCV002569021 RCV001563907 RCV001563909 RCV001563908

NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)

SNV
Germline

Chr2:71511838

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705340

rs_372573603

5 SubmittersRCV001567007 RCV001832773 RCV002568441 RCV004039348

NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His)

SNV
Germline

Chr2:71574274

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706515

rs_369345918

4 SubmittersRCV001727140 RCV002032690 RCV005564892

NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro)

SNV
Germline

Chr2:71569885

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347216100

rs_752689148

3 SubmittersRCV001770715 RCV002540281

NM_001130987.2(DYSF):c.6203C>A (p.Thr2068Asn)

SNV
Germline

Chr2:71682559

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347227010

rs_1261660052

3 SubmittersRCV001772881 RCV002538831

NM_001130987.2(DYSF):c.6218C>A (p.Thr2073Asn)

SNV
Germline

Chr2:71682574

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707649

rs_771663815

3 SubmittersRCV001765751 RCV002538852

NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)

SNV
Germline

Chr2:71602779

Pathogenic

Muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347226559

rs_1324430830

3 SubmittersRCV001775503 RCV001868822 RCV005614674

NM_001130987.2(DYSF):c.2149C>T (p.Gln717Ter)

SNV
Germline

Chr2:71556004

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347219142

rs_1320536163

2 SubmittersRCV001783178 RCV002541141

NM_001130987.2(DYSF):c.1985-1G>T

SNV
Germline

Chr2:71553806

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347218788

rs_2091139939

3 SubmittersRCV001783185 RCV001885159 RCV004571093

NM_001130987.2(DYSF):c.1494G>A (p.Trp498Ter)

SNV
Germline

Chr2:71539157

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1705794

rs_141400095

2 SubmittersRCV001783188 RCV002544244

NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)

SNV
Germline

Chr2:71570683

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA1706451

rs_149617331

2 SubmittersRCV001988775 RCV003230723

NM_001130987.2(DYSF):c.3228+1G>C

SNV
Germline

Chr2:71570742

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347217179

rs_2092371566

2 SubmittersRCV002028017 RCV005868549

NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser)

SNV
Germline

Chr2:71612671

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706943

rs_151268930

2 SubmittersRCV002036793 RCV003146503

NM_001130987.2(DYSF):c.5671C>T (p.Gln1891Ter)

SNV
Germline

Chr2:71669633

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223512

rs_2152956531

1 SubmittersRCV001905682

NM_001130987.2(DYSF):c.3928-2A>G

SNV
Germline

Chr2:71602774

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347226522

rs_2152861747

1 SubmittersRCV001968869

NM_001130987.2(DYSF):c.3575-2A>G

SNV
Germline

Chr2:71598562

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223204

rs_2152855735

1 SubmittersRCV001999911

NM_001130987.2(DYSF):c.5571G>A (p.Trp1857Ter)

SNV
Germline

Chr2:71669136

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347222734

rs_1573094789

1 SubmittersRCV001888810

NM_001130987.2(DYSF):c.4586A>T (p.Lys1529Met)

SNV
Germline

Chr2:71644023

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707056

rs_527574888

3 SubmittersRCV001884248 RCV003146306 RCV002553510

NM_001130987.2(DYSF):c.345+1G>T

SNV
Germline

Chr2:71503320

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347204685

rs_2152715844

1 SubmittersRCV001970086

NM_001130987.2(DYSF):c.4059+1G>A

SNV
Germline

Chr2:71611347

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347228368

rs_1229707459

2 SubmittersRCV001950781 RCV003490975

NM_001130987.2(DYSF):c.3898-1G>C

SNV
Germline

Chr2:71601498

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225842

rs_2152859973

1 SubmittersRCV002003158

NM_001130987.2(DYSF):c.3368G>A (p.Gly1123Glu)

SNV
Germline

Chr2:71574337

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706534

rs_148489131

2 SubmittersRCV001987721 RCV003146403

NM_001130987.2(DYSF):c.6334A>G (p.Met2112Val)

SNV
Germline

Chr2:71686466

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347227869

rs_2152976526

2 SubmittersRCV001981714 RCV006448791

NM_001130987.2(DYSF):c.2077C>T (p.Gln693Ter)

SNV
Germline

Chr2:71553899

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218989

rs_2152792645

1 SubmittersRCV001985387

NM_001130987.2(DYSF):c.4528-5C>G

SNV
Germline

Chr2:71643960

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707047

rs_774448845

3 SubmittersRCV001980078 RCV004571691 RCV005635366

NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)

SNV
Germline

Chr2:71669143

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347222793

rs_2152955939

2 SubmittersRCV001962334 RCV004571456

NM_001130987.2(DYSF):c.3614A>G (p.Lys1205Arg)

SNV
Germline

Chr2:71598603

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706654

rs_757123788

2 SubmittersRCV002011936 RCV006367831

NM_001130987.2(DYSF):c.3050G>A (p.Trp1017Ter)

SNV
Germline

Chr2:71570299

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347216644

rs_2152814618

1 SubmittersRCV001911224

NM_003494.4(DYSF):c.1522+1G>A

SNV
Germline

Chr2:71549392

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347217273

rs_1473130799

2 SubmittersRCV002047913 RCV003471257

NM_001130987.2(DYSF):c.1692+1G>A

SNV
Germline

Chr2:71551157

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217539

rs_1319833991

1 SubmittersRCV002000170

NM_001130987.2(DYSF):c.1969C>T (p.Arg657Cys)

SNV
Germline

Chr2:71553173

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705990

rs_752848496

2 SubmittersRCV001974243 RCV003146443

NM_001130987.2(DYSF):c.3460G>A (p.Gly1154Ser)

SNV
Germline

Chr2:71589650

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706574

rs_554800123

2 SubmittersRCV001912870 RCV005635286

NM_001130987.2(DYSF):c.6131G>A (p.Gly2044Asp)

SNV
Germline

Chr2:71681068

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347226835

rs_2152970043

1 SubmittersRCV001976799

NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser)

SNV
Germline

Chr2:71520810

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347211961

rs_2152742210

2 SubmittersRCV002040474 RCV003146481

NM_001130987.2(DYSF):c.4071G>A (p.Trp1357Ter)

SNV
Germline

Chr2:71611476

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347228403

rs_1424374529

1 SubmittersRCV001915349

NM_001130987.2(DYSF):c.2410-2A>G

SNV
Germline

Chr2:71564056

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347211053

rs_1242016118

1 SubmittersRCV002005540

NM_001130987.2(DYSF):c.668C>A (p.Ser223Ter)

SNV
Germline

Chr2:71513830

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347207253

rs_2152731856

1 SubmittersRCV001946823

NM_001130987.2(DYSF):c.2865-1G>A

SNV
Germline

Chr2:71569819

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215851

rs_2152813916

1 SubmittersRCV001998988

NM_001130987.2(DYSF):c.3496+1G>A

SNV
Germline

Chr2:71589687

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220707

rs_1486303961

1 SubmittersRCV001995956

NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)

SNV
Germline

Chr2:71569885

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706332

rs_752689148

3 SubmittersRCV002014091 RCV003314031 RCV005552616

NM_001130987.2(DYSF):c.2109+1G>C

SNV
Germline

Chr2:71553932

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347219053

rs_2152792714

2 SubmittersRCV002003447 RCV005401899

NM_001130987.2(DYSF):c.5718C>A (p.Phe1906Leu)

SNV
Germline

Chr2:71669680

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223818

rs_1233961202

1 SubmittersRCV002051269

NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter)

SNV
Germline

Chr2:71611308

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347228293

rs_147950418

2 SubmittersRCV001972811 RCV004571743

NM_001130987.2(DYSF):c.3898-2A>C

SNV
Germline

Chr2:71601497

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA49772049

rs_989599402

1 SubmittersRCV002045839

NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)

SNV
Germline

Chr2:71520182

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705568

rs_763604611

4 SubmittersRCV002018410 RCV002290838 RCV004809730

NM_001130987.2(DYSF):c.5893C>T (p.Gln1965Ter)

SNV
Germline

Chr2:71679065

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347226225

rs_2152967730

1 SubmittersRCV001963080

NM_001130987.2(DYSF):c.2905G>T (p.Glu969Ter)

SNV
Germline

Chr2:71569860

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215983

rs_2152813970

1 SubmittersRCV001915974

NM_001130987.2(DYSF):c.5207G>A (p.Arg1736His)

SNV
Germline

Chr2:71665194

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707289

rs_777701226

2 SubmittersRCV001935797 RCV003490940

NM_001130987.2(DYSF):c.2697+5G>A

SNV
Germline

Chr2:71568087

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA2573135709

rs_2092213253

4 SubmittersRCV002042107 RCV003339763 RCV005253904

NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)

SNV
Germline

Chr2:71561801

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA347208953

rs_1172643225

5 SubmittersRCV001982343 RCV003989735 RCV006252491 RCV006275103 RCV005409855

NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr2:71526275

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA49771477

rs_375071568

2 SubmittersRCV001948729 RCV002492023

NM_001130987.2(DYSF):c.4982C>A (p.Thr1661Lys)

SNV
Germline

Chr2:71660630

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707203

rs_144383140

2 SubmittersRCV002157001 RCV004044970

NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys)

SNV
Germline

Chr2:71590231

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706615

rs_372297758

3 SubmittersRCV002222905 RCV003101252 RCV006372705

NM_001130987.2(DYSF):c.3085+1G>A

SNV
Germline

Chr2:71570335

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216876

rs_1553555585

2 SubmittersRCV002247163 RCV003101356

NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)

SNV
Germline

Chr2:71520882

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347212192

rs_2152742282

2 SubmittersRCV002272728 RCV005095973

NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)

SNV
Germline

Chr2:71515632

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347208337

rs_2545413054

2 SubmittersRCV002287923 RCV003574900

NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)

SNV
Germline

Chr2:71660571

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347219957

rs_376679461

2 SubmittersRCV002309767 RCV003738180

NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)

SNV
Germline

Chr2:71568306

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347215181

rs_2545800359

2 SubmittersRCV002310059 RCV003574904

NM_001130987.2(DYSF):c.3440C>T (p.Ser1147Phe)

SNV
Germline

Chr2:71589630

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706566

rs_755476936

3 SubmittersRCV003051307 RCV003143457 RCV004070291

NM_001130987.2(DYSF):c.2560C>G (p.Leu854Val)

SNV
Germline

Chr2:71564208

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706199

rs_775456247

2 SubmittersRCV003077081 RCV006363036

NM_001130987.2(DYSF):c.3958-1G>A

SNV
Germline

Chr2:71611244

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347227973

rs_2546125695

1 SubmittersRCV003083345

NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)

SNV
Germline

Chr2:71574303

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347218251

rs_2545876644

3 SubmittersRCV003085524 RCV003465948 RCV005406580

NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)

SNV
Germline

Chr2:71665170

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707284

rs_542182076

2 SubmittersRCV003074963 RCV003340619

NM_001130987.2(DYSF):c.3806G>A (p.Arg1269Gln)

SNV
Germline

Chr2:71600751

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706712

rs_759192836

3 SubmittersRCV003082972 RCV003143488

NM_001130987.2(DYSF):c.766G>A (p.Val256Ile)

SNV
Germline

Chr2:71515629

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705455

rs_145360241

2 SubmittersRCV003092120 RCV003143485

NM_001130987.2(DYSF):c.4619C>T (p.Thr1540Ile)

SNV
Germline

Chr2:71644056

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA49751156

rs_200809348

2 SubmittersRCV002602735 RCV005567419

NM_001130987.2(DYSF):c.1111A>G (p.Thr371Ala)

SNV
Germline

Chr2:71520866

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA49763095

rs_1049651735

2 SubmittersRCV002632439 RCV005567428

NM_001130987.2(DYSF):c.345+1G>A

SNV
Germline

Chr2:71503320

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347204681

rs_2152715844

2 SubmittersRCV002664239 RCV005409909

NM_001130987.2(DYSF):c.359T>C (p.Leu120Pro)

SNV
Germline

Chr2:71511820

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347205395

rs_2545376508

1 SubmittersRCV002651475

NM_001130987.2(DYSF):c.1261G>T (p.Glu421Ter)

SNV
Germline

Chr2:71526331

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347213583

rs_778673716

1 SubmittersRCV002634376

NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)

SNV
Germline

Chr2:71611483

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347228416

rs_199870606

3 SubmittersRCV002664240 RCV003459773 RCV005028321

NM_001130987.2(DYSF):c.1999T>C (p.Tyr667His)

SNV
Germline

Chr2:71553821

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706025

rs_368462679

2 SubmittersRCV002612401 RCV005636752

NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)

SNV
Germline

Chr2:71513797

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705400

rs_761985420

3 SubmittersRCV002511973 RCV002571619

NM_001130987.2(DYSF):c.3575-1G>C

SNV
Germline

Chr2:71598563

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347223212

rs_2093462674

2 SubmittersRCV003105132 RCV004572849

NM_001130987.2(DYSF):c.691G>A (p.Gly231Arg)

SNV
Germline

Chr2:71513853

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705419

rs_769802282

2 SubmittersRCV003118639 RCV004779486

NM_001130987.2(DYSF):c.1102T>C (p.Tyr368His)

SNV
Germline

Chr2:71520857

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347212130

rs_2545459688

1 SubmittersRCV003118723

NM_001130987.2(DYSF):c.593C>G (p.Thr198Ser)

SNV
Germline

Chr2:71513755

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705389

rs_759461742

2 SubmittersRCV003116239 RCV005333567

NM_003494.4(DYSF):c.1512A>T (p.Lys504Asn)

SNV
Germline

Chr2:71549381

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705844

rs_149066183

2 SubmittersRCV002714966 RCV003146606

NM_001130987.2(DYSF):c.5693G>A (p.Arg1898His)

SNV
Germline

Chr2:71669655

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707477

rs_143939123

3 SubmittersRCV002690776 RCV003146608 RCV004067625

NM_001130987.2(DYSF):c.5175-2A>G

SNV
Germline

Chr2:71665160

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220896

rs_2546546691

1 SubmittersRCV002691234

NM_001130987.2(DYSF):c.1216G>A (p.Val406Ile)

SNV
Germline

Chr2:71526286

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705652

rs_150724610

2 SubmittersRCV002711984 RCV005635604

NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)

SNV
Germline

Chr2:71503221

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347204115

rs_780227798

1 SubmittersRCV002712026

NM_001130987.2(DYSF):c.1985-2A>G

SNV
Germline

Chr2:71553805

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218783

rs_2545694414

1 SubmittersRCV002765775

NM_001130987.2(DYSF):c.1241G>A (p.Cys414Tyr)

SNV
Germline

Chr2:71526311

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705656

rs_770578593

2 SubmittersRCV002756801 RCV003146627

NM_001130987.2(DYSF):c.2777C>T (p.Thr926Met)

SNV
Germline

Chr2:71568251

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706283

rs_571178452

3 SubmittersRCV002781119 RCV003146634 RCV002790261

NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)

SNV
Germline

Chr2:71667478

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347221413

rs_148860301

2 SubmittersRCV002790734 RCV005027968

NM_001130987.2(DYSF):c.6148A>G (p.Met2050Val)

SNV
Germline

Chr2:71681085

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707604

rs_758523519

3 SubmittersRCV002775797 RCV003146628 RCV004973621

NM_001130987.2(DYSF):c.3336G>A (p.Trp1112Ter)

SNV
Germline

Chr2:71574305

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218256

rs_1558513252

1 SubmittersRCV002825164

NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)

SNV
Germline

Chr2:71664350

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707238

rs_368142107

3 SubmittersRCV002829424 RCV005027982 RCV004719272

NM_001130987.2(DYSF):c.5389C>T (p.Gln1797Ter)

SNV
Germline

Chr2:71667447

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA1707349

rs_370866476

1 SubmittersRCV002866085

NM_001130987.2(DYSF):c.3957+1G>A

SNV
Germline

Chr2:71602806

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347226677

rs_2546074494

1 SubmittersRCV002866449

NM_001130987.2(DYSF):c.5440C>T (p.Gln1814Ter)

SNV
Germline

Chr2:71667498

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347221467

rs_2546561685

1 SubmittersRCV002876274

NM_001130987.2(DYSF):c.3245C>T (p.Ala1082Val)

SNV
Germline

Chr2:71574214

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706496

rs_200637035

2 SubmittersRCV002922603 RCV003146679

NM_003494.4(DYSF):c.46G>C (p.Asp16His)

SNV
Germline

Chr2:71454044

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705174

rs_140603487

3 SubmittersRCV002942311 RCV003146687 RCV005565338

NM_001130987.2(DYSF):c.3425G>A (p.Ser1142Asn)

SNV
Germline

Chr2:71589615

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706559

rs_751332312

2 SubmittersRCV002957272 RCV005565343

NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)

SNV
Germline

Chr2:71513832

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705409

rs_369719244

3 SubmittersRCV002975763 RCV003146698 RCV004973788

NM_001130987.2(DYSF):c.4054A>G (p.Ile1352Val)

SNV
Germline

Chr2:71611341

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706852

rs_146242836

2 SubmittersRCV002953714 RCV003146694

NM_001130987.2(DYSF):c.2194G>A (p.Asp732Asn)

SNV
Germline

Chr2:71556049

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49798129

rs_773783407

2 SubmittersRCV003250634 RCV002947966

NM_001130987.2(DYSF):c.1276+2T>A

SNV
Germline

Chr2:71526348

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347213700

rs_2545492910

1 SubmittersRCV003009469

NM_001130987.2(DYSF):c.1883C>G (p.Ala628Gly)

SNV
Germline

Chr2:71553087

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705975

rs_374204501

2 SubmittersRCV002993994 RCV002993993

NM_001130987.2(DYSF):c.5169C>A (p.Tyr1723Ter)

SNV
Germline

Chr2:71664433

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220671

rs_2546541049

1 SubmittersRCV003028155

NM_001130987.2(DYSF):c.6173+1G>A

SNV
Germline

Chr2:71681111

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347226922

rs_1293857367

3 SubmittersRCV003021279 RCV003459695 RCV004813212

NM_001130987.2(DYSF):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr2:71600792

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225446

rs_2546061717

1 SubmittersRCV003038626

NM_001130987.2(DYSF):c.4528-2A>T

SNV
Germline

Chr2:71643963

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217742

rs_1213965862

1 SubmittersRCV003022547

NM_001130987.2(DYSF):c.5643-2A>C

SNV
Germline

Chr2:71669603

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223300

rs_2152956502

1 SubmittersRCV003042867

NM_001130987.2(DYSF):c.4221+1G>T

SNV
Germline

Chr2:71611627

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347228988

rs_1474151297

2 SubmittersRCV003059087 RCV005636686

NM_001130987.2(DYSF):c.346-2A>C

SNV
Germline

Chr2:71511805

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Acute myeloid leukemia

Criteria Provided
Single Submitter

CA347205366

rs_2152728575

2 SubmittersRCV003030304 RCV005926827

NM_001130987.2(DYSF):c.5885-1G>A

SNV
Germline

Chr2:71679056

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347226210

rs_771257070

2 SubmittersRCV003123434 RCV003778670

NM_001130987.2(DYSF):c.3332G>A (p.Arg1111His)

SNV
Germline

Chr2:71574301

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706526

rs_111488441

2 SubmittersRCV003146924 RCV005099403

NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)

SNV
Germline

Chr2:71667471

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707354

rs_771402331

6 SubmittersRCV003146936 RCV003236671 RCV005419599

NM_001130987.2(DYSF):c.5687A>G (p.His1896Arg)

SNV
Germline

Chr2:71669649

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA49769275

rs_199601326

2 SubmittersRCV003146939 RCV003575041

NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)

SNV
Germline

Chr2:71570325

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347216793

rs_200943384

2 SubmittersRCV003146957 RCV003738374

NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)

SNV
Germline

Chr2:71515738

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347208985

rs_1559053603

2 SubmittersRCV003146968 RCV003778869

NM_001130987.2(DYSF):c.3170G>T (p.Arg1057Leu)

SNV
Germline

Chr2:71570683

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347217062

rs_149617331

3 SubmittersRCV003146973 RCV005240710 RCV006473719

NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)

SNV
Germline

Chr2:71664413

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347220599

rs_766091136

3 SubmittersRCV003475592 RCV003575101 RCV005616639

NM_001130987.2(DYSF):c.148-2A>G

SNV
Germline

Chr2:71481877

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216203

rs_2467183830

2 SubmittersRCV003460012 RCV006473219

NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)

SNV
Germline

Chr2:71520810

Pathogenic

Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347211959

rs_2152742210

2 SubmittersRCV003460013 RCV003575102

NM_001130987.2(DYSF):c.3402+1G>A

SNV
Germline

Chr2:71574372

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218605

rs_2545877361

1 SubmittersRCV003579365

NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)

SNV
Germline

Chr2:71520896

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347212218

rs_1301200599

2 SubmittersRCV003575140 RCV004574058

NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr2:71535057

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347215655

rs_2545554704

2 SubmittersRCV003573541 RCV005030109

NM_001130987.2(DYSF):c.1692+1G>C

SNV
Germline

Chr2:71551157

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347217540

rs_1319833991

2 SubmittersRCV003573542 RCV004574095

NM_001130987.2(DYSF):c.922G>T (p.Glu308Ter)

SNV
Germline

Chr2:71516213

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347209479

rs_2086635662

1 SubmittersRCV003573559

NM_001130987.2(DYSF):c.3854C>T (p.Ser1285Leu)

SNV
Germline

Chr2:71600799

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706728

rs_759487846

2 SubmittersRCV003573575 RCV005333623

NM_001130987.2(DYSF):c.2278C>T (p.Gln760Ter)

SNV
Germline

Chr2:71561813

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347209116

rs_2545753136

1 SubmittersRCV003576136

NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)

SNV
Germline

Chr2:71674270

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225328

rs_1237492797

1 SubmittersRCV003576155

NM_001130987.2(DYSF):c.2865-2A>G

SNV
Germline

Chr2:71569818

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215847

rs_886043964

1 SubmittersRCV003576126

NM_001130987.2(DYSF):c.5174+14G>A

SNV
Germline

Chr2:71664452

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707270

rs_531408610

2 SubmittersRCV003576166 RCV005254844

NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)

SNV
Germline

Chr2:71570703

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217092

rs_752810646

1 SubmittersRCV003580416

NM_001130987.2(DYSF):c.2409+1G>T

SNV
Germline

Chr2:71561945

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347210175

rs_151317754

1 SubmittersRCV003578580

NM_001130987.2(DYSF):c.1276+1G>C

SNV
Germline

Chr2:71526347

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347213690

rs_2545492904

1 SubmittersRCV003735175

NM_001130987.2(DYSF):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr2:71568331

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215345

rs_1402556079

1 SubmittersRCV003735188

NM_001130987.2(DYSF):c.4556A>T (p.Lys1519Ile)

SNV
Germline

Chr2:71643993

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217870

rs_398123788

1 SubmittersRCV003735245

NM_001130987.2(DYSF):c.4387+2T>G

SNV
Germline

Chr2:71612808

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347229510

rs_759939755

1 SubmittersRCV003735237

NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)

SNV
Germline

Chr2:71551073

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217357

rs_121908962

1 SubmittersRCV003735193

NM_001130987.2(DYSF):c.4639C>T (p.Gln1547Ter)

SNV
Germline

Chr2:71656174

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347219319

rs_2094765959

1 SubmittersRCV003735233

NM_001130987.2(DYSF):c.345+1G>C

SNV
Germline

Chr2:71503320

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347204682

rs_2152715844

1 SubmittersRCV003735299

NM_001130987.2(DYSF):c.5061T>G (p.Tyr1687Ter)

SNV
Germline

Chr2:71664325

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347220295

rs_2546540241

1 SubmittersRCV003735309

NM_001130987.2(DYSF):c.3159C>A (p.Tyr1053Ter)

SNV
Germline

Chr2:71570672

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217047

rs_1205077486

1 SubmittersRCV003735388

NM_001130987.2(DYSF):c.3897+1G>T

SNV
Germline

Chr2:71600843

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225731

rs_1553376691

1 SubmittersRCV003735416

NM_001130987.2(DYSF):c.5626G>C (p.Asp1876His)

SNV
Germline

Chr2:71669191

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223076

rs_398123794

1 SubmittersRCV003735522

NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)

SNV
Germline

Chr2:71682661

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347227440

rs_2546652931

1 SubmittersRCV003735535

NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)

SNV
Germline

Chr2:71574360

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347218542

rs_1231906656

2 SubmittersRCV003739570 RCV005030234

NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)

SNV
Germline

Chr2:71570663

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217023

rs_529077809

1 SubmittersRCV003737099

NM_001130987.2(DYSF):c.5684T>A (p.Val1895Glu)

SNV
Germline

Chr2:71669646

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347223597

rs_1306107119

1 SubmittersRCV003738747

NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)

SNV
Germline

Chr2:71574303

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347218250

rs_2545876644

1 SubmittersRCV003739399

NM_001130987.2(DYSF):c.3167G>C (p.Arg1056Pro)

SNV
Germline

Chr2:71570680

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347217058

rs_150877497

2 SubmittersRCV003738749 RCV005602080

NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)

SNV
Germline

Chr2:71515660

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347208444

rs_141497053

1 SubmittersRCV003866056

NM_001130987.2(DYSF):c.2864+1G>C

SNV
Germline

Chr2:71568339

Pathogenic

Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

rs_199954546

2 SubmittersRCV004575862 RCV006488979

NM_001130987.2(DYSF):c.3090G>A (p.Trp1030Ter)

SNV
Germline

Chr2:71570603

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005084553

NM_001130987.2(DYSF):c.1277-2A>G

SNV
Germline

Chr2:71528296

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005085012

NM_001130987.2(DYSF):c.1054T>G (p.Trp352Gly)

SNV
Germline

Chr2:71520809

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005121804

NM_001130987.2(DYSF):c.1493+5G>C

SNV
Germline

Chr2:71535316

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

2 SubmittersRCV005618449 RCV005142310

NM_001130987.2(DYSF):c.5132C>T (p.Ser1711Phe)

SNV
Germline

Chr2:71664396

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005154426 RCV006455991

NM_001130987.2(DYSF):c.3229-1G>A

SNV
Germline

Chr2:71574197

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005158957

NM_001130987.2(DYSF):c.2426C>A (p.Pro809Gln)

SNV
Germline

Chr2:71564074

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005159063

NM_001130987.2(DYSF):c.1373G>A (p.Gly458Glu)

SNV
Germline

Chr2:71528394

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005174926

NM_001130987.2(DYSF):c.1916G>A (p.Gly639Glu)

SNV
Germline

Chr2:71553120

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005192704

NM_001130987.2(DYSF):c.3228+1G>T

SNV
Germline

Chr2:71570742

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005186263

NM_001130987.2(DYSF):c.3927+1G>A

SNV
Germline

Chr2:71601529

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005207298

NM_001130987.2(DYSF):c.4999G>A (p.Gly1667Arg)

SNV
Germline

Chr2:71660647

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV005198152

NM_001130987.2(DYSF):c.4549T>C (p.Trp1517Arg)

SNV
Germline

Chr2:71643986

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006477113

NM_001130987.2(DYSF):c.5004-2A>C

SNV
Germline

Chr2:71664266

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006496348

NM_001130987.2(DYSF):c.239+1G>C

SNV
Germline

Chr2:71481971

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006523672

NM_001130987.2(DYSF):c.3997G>T (p.Glu1333Ter)

SNV
Germline

Chr2:71611284

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006529631

NM_001130987.2(DYSF):c.346-2A>G

SNV
Germline

Chr2:71511805

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006516057

NM_001130987.2(DYSF):c.5628C>A (p.Asp1876Glu)

SNV
Germline

Chr2:71669193

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006534135

NM_001130987.2(DYSF):c.240-2A>G

SNV
Germline

Chr2:71503212

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006587430

NM_001130987.2(DYSF):c.1023C>A (p.Tyr341Ter)

SNV
Germline

Chr2:71520198

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

1 SubmittersRCV006620422