Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	SNV Germline	Chr11:22255485	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy ANO5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224408	rs_137854524	10 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889 RCV004732524
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	SNV Germline	Chr11:22236206	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Hereditary fructosuria Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy Acute rhabdomyolysis Nonpapillary renal cell carcinoma Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA224418	rs_137854523	30 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000825558 RCV000762830 RCV003993729 RCV003993730 RCV005865150 RCV005887208 RCV005887209
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	SNV Germline	Chr11:22274605	Pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy ANO5 Muscle Disease	Reviewed By Expert Panel	CA130516	rs_137854529	22 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162 RCV004998071 RCV005249979
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.991G>T (p.Gly331Trp)	SNV Germline	Chr2:71517028	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253918	rs_121908963	5 SubmittersRCV000007069 RCV000594920 RCV003159090 RCV006252416
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_213599.3(ANO5):c.1407+5G>A	SNV Germline	Chr11:22257759	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA343748	rs_281865464	4 SubmittersRCV000032968 RCV000032553 RCV001091512 RCV006555352
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_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.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.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.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.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.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.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.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_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	SNV Germline	Chr11:22262231	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA232785	rs_137854526	13 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119
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.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.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.1439T>C (p.Leu480Pro)	SNV Germline	Chr2:71535079	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 not specified Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA240279	rs_794727119	5 SubmittersRCV000174707 RCV000674572 RCV003468855 RCV005237647 RCV005864457
NM_213599.3(ANO5):c.1898+1G>A	SNV Germline	Chr11:22263044	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Reviewed By Expert Panel	CA201366	rs_142027093	17 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118 RCV005864458 RCV005632283
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.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.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.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.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_213599.3(ANO5):c.172C>T (p.Arg58Trp)	SNV Germline	Chr11:22218279	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy ANO5-related disorder Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Reviewed By Expert Panel	CA202865	rs_201725369	21 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002 RCV004732749 RCV005042389
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.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.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.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.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.460+2T>G	SNV Germline	Chr2:71511923	Conflicting classifications of pathogenicity	not specified 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 Familial cancer of breast Acute myeloid leukemia Familial pancreatic carcinoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA1705352	rs_750356247	4 SubmittersRCV000264961 RCV000986769 RCV005025414 RCV005895495 RCV005895496 RCV005895498 RCV005895497
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.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.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_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	SNV Germline	Chr11:22262138	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA5923316	rs_139618850	7 SubmittersRCV000322343 RCV000807697 RCV000758149 RCV003323487 RCV005044527
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.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.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.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.5561G>T (p.Cys1854Phe)	SNV Germline	Chr2:71669126	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604436	rs_886042584	4 SubmittersRCV000725239 RCV000595427 RCV003463747
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.6064-1G>C	SNV Germline	Chr2:71681000	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604506	rs_886042636	2 SubmittersRCV000307535 RCV003469229
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.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.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.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.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.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.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.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_213599.3(ANO5):c.2498T>A (p.Met833Lys)	SNV Germline	Chr11:22276177	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA5923597	rs_142073798	11 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129 RCV005355594
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)	SNV Germline	Chr11:22274589	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3	Criteria Provided Conflicting Classifications	CA5923512	rs_144048656	9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259770 RCV002259772
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.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.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_213599.3(ANO5):c.1103C>T (p.Thr368Met)	SNV Germline	Chr11:22250830	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA5923127	rs_760792371	6 SubmittersRCV000355856 RCV002521946 RCV005044536 RCV005409646 RCV005418048
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_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	SNV Germline	Chr11:22262162	Conflicting classifications of pathogenicity	Myopathy Condition: not provided Fatty replacement of skeletal muscle Distal muscle weakness Elevated circulating creatine kinase concentration Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Muscular dystrophy Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923318	rs_375014127	13 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585 RCV005044538 RCV005416272 RCV006249374
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_213599.3(ANO5):c.169C>T (p.Arg57Trp)	SNV Germline	Chr11:22218276	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3	Criteria Provided Conflicting Classifications	CA379924809	rs_1323349209	5 SubmittersRCV000497926 RCV000688833 RCV001254061
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.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.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.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_213599.3(ANO5):c.148C>T (p.Arg50Ter)	SNV Germline	Chr11:22218255	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA379924765	rs_1168346560	3 SubmittersRCV000545507 RCV000762829 RCV005000183
NM_001130987.2(DYSF):c.5546+2T>A	SNV Germline	Chr2:71668844	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347222015	rs_1553415233	2 SubmittersRCV000579204 RCV004568239
NM_001130987.2(DYSF):c.3085+1G>T	SNV Germline	Chr2:71570335	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA347216871	rs_1553555585	2 SubmittersRCV000590966 RCV005409680
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.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.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.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.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.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.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.6028T>C (p.Cys2010Arg)	SNV Germline	Chr2:71679200	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA347226529	rs_1553420858	2 SubmittersRCV000596899 RCV004568316
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)	SNV Germline	Chr11:22270378	Pathogenic/Likely pathogenic	Elevated circulating creatine kinase concentration Fatty replacement of skeletal muscle Distal muscle weakness Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA5923415	rs_760137559	4 SubmittersRCV000627022 RCV001860483 RCV005409691 RCV006459690
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.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.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_213599.3(ANO5):c.1120-1G>A	SNV Germline	Chr11:22250950	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA5923150	rs_561719071	4 SubmittersRCV000645351 RCV000729498 RCV003117452 RCV006605288
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)	SNV Germline	Chr11:22272871	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided not specified Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA218775842	rs_926233739	6 SubmittersRCV000645356 RCV000729727 RCV004586850 RCV005046830
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.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.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.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_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.1449+1G>A	SNV Germline	Chr2:71535090	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347215726	rs_1553535902	2 SubmittersRCV000670711 RCV005409713
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.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.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.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.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.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.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.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_213599.3(ANO5):c.1982T>C (p.Leu661Pro)	SNV Germline	Chr11:22270395	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L not specified Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA379923407	rs_1472414854	3 SubmittersRCV001973711 RCV004690208 RCV005042631
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.3991C>T (p.Gln1331Ter)	SNV Germline	Chr2:71611278	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA347228166	rs_1558613592	2 SubmittersRCV000785919 RCV005409736
NM_001130987.2(DYSF):c.1149+3G>C	SNV Germline	Chr2:71520907	Pathogenic/Likely pathogenic	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 Multiple Submitters No Conflicts	CA915944007	rs_1573704236	2 SubmittersRCV000993851 RCV005029453
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.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.5842C>T (p.Gln1948Ter)	SNV Unknown	Chr2:71674254	Likely pathogenic	Distal lower limb muscle weakness Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347225264	rs_1573138313	2 SubmittersRCV000850339 RCV003461294
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)	SNV Germline	Chr11:22257706	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA5923225	rs_754889480	4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437
NM_001130987.2(DYSF):c.1149+1G>C	SNV Germline	Chr2:71520905	Pathogenic	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	Reviewed By Expert Panel	CA347212236	rs_398123763	3 SubmittersRCV000997158 RCV005029554 RCV005601641
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.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.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.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.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.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.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.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.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.118A>T (p.Lys40Ter)	SNV Unknown	Chr2:71480909	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347216014	rs_2082829594	1 SubmittersRCV001264239
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)	SNV Unknown	Chr2:71481924	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347216396	rs_2082945195	1 SubmittersRCV001264240
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)	SNV Unknown	Chr2:71515641	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347208373	rs_759065714	1 SubmittersRCV001264241
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)	SNV Unknown	Chr2:71526338	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213635	rs_2087900330	1 SubmittersRCV001264242
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)	SNV Unknown	Chr2:71535066	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347215677	rs_2089169741	1 SubmittersRCV001264243
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)	SNV Unknown	Chr2:71551081	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347217373	rs_2090909751	1 SubmittersRCV001264244
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)	SNV Unknown	Chr2:71553831	Likely pathogenic	Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter	CA347218841	rs_2091142154	1 SubmittersRCV001264245
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)	SNV Unknown	Chr2:71553861	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347218903	rs_2091144091	1 SubmittersRCV001264246
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)	SNV Unknown	Chr2:71564211	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347211901	rs_2091951931	1 SubmittersRCV001263671
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)	SNV Unknown	Chr2:71567963	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213101	rs_2092205152	1 SubmittersRCV001263673
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)	SNV Unknown	Chr2:71568021	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213610	rs_2092208616	1 SubmittersRCV001263674
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)	SNV Unknown	Chr2:71568029	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213684	rs_2092209337	1 SubmittersRCV001263675
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)	SNV Unknown	Chr2:71568035	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213735	rs_2092210085	1 SubmittersRCV001263676
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)	SNV Unknown	Chr2:71568059	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213907	rs_2092211777	1 SubmittersRCV001263677
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)	SNV Unknown	Chr2:71568327	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347215317	rs_2092231526	1 SubmittersRCV001263678
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)	SNV Unknown	Chr2:71570262	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347216447	rs_763925689	1 SubmittersRCV001263962
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.3179G>A (p.Trp1060Ter)	SNV Unknown	Chr2:71570692	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347217073	rs_2092369130	1 SubmittersRCV001263964
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)	SNV Unknown	Chr2:71574210	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347217954	rs_1666836481	1 SubmittersRCV001263965
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.3559A>T (p.Lys1187Ter)	SNV Unknown	Chr2:71590273	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347220852	rs_2093222376	1 SubmittersRCV001263967
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)	SNV Unknown	Chr2:71598640	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347223846	rs_2093464314	1 SubmittersRCV001263968
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)	SNV Germline	Chr2:71598661	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347224044	rs_143393575	3 SubmittersRCV001263969 RCV001780216 RCV003469492
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)	SNV Unknown	Chr2:71598668	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347224121	rs_773773555	1 SubmittersRCV001264128
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)	SNV Unknown	Chr2:71600840	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347225716	rs_1462064763	1 SubmittersRCV001264129
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.4888C>T (p.Gln1630Ter)	SNV Unknown	Chr2:71659010	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347219870	rs_2094828804	1 SubmittersRCV001264131
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.4999G>T (p.Gly1667Ter)	SNV Unknown	Chr2:71660647	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347220121	rs_868779799	1 SubmittersRCV001264133
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	SNV Germline	Chr2:71664425	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 Condition: not provided Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA1707263	rs_758992291	6 SubmittersRCV001264134 RCV003399036 RCV003145501 RCV003469493
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)	SNV Unknown	Chr2:71665226	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221029	rs_1342179740	1 SubmittersRCV001264135
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)	SNV Unknown	Chr2:71665238	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221057	rs_2094975129	1 SubmittersRCV001264255
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)	SNV Unknown	Chr2:71665283	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221149	rs_2094975881	1 SubmittersRCV001264256
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)	SNV Unknown	Chr2:71665295	Likely pathogenic	Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter	CA347221175	rs_2094976185	1 SubmittersRCV001264257
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)	SNV Unknown	Chr2:71665304	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221196	rs_2094976441	1 SubmittersRCV001264258
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)	SNV Unknown	Chr2:71669182	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347223021	rs_2095073059	1 SubmittersRCV001264259
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)	SNV Unknown	Chr2:71669203	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347223148	rs_1320752132	1 SubmittersRCV001264260
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)	SNV Unknown	Chr2:71681046	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347226788	rs_2095289978	1 SubmittersRCV001264261
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_213599.3(ANO5):c.2116C>T (p.Arg706Ter)	SNV Unknown	Chr11:22272870	Pathogenic	Miyoshi muscular dystrophy 3	Criteria Provided Single Submitter	CA5923458	rs_768835530	1 SubmittersRCV001330859
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_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.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.4756-1G>A	SNV Germline	Chr2:71658877	Pathogenic/Likely pathogenic	Abnormality of the musculature Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347219585	rs_2152940909	2 SubmittersRCV001814577 RCV003463048
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.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_213599.3(ANO5):c.294+5G>A	SNV Germline	Chr11:22221215	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA2573053480	rs_2133589044	3 SubmittersRCV001787237 RCV005213595 RCV005409837
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_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.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.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.2472C>A (p.Tyr824Ter)	SNV Germline	Chr2:71564120	Pathogenic	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 Single Submitter	CA347211347	rs_765420779	2 SubmittersRCV002287921 RCV005025766
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)	SNV Germline	Chr2:71570648	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347216989	rs_2545823705	2 SubmittersRCV002306506 RCV003491083
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)	SNV Unknown	Chr2:71665280	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221143	rs_2094975847	1 SubmittersRCV002306561
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.1171G>T (p.Glu391Ter)	SNV Unknown	Chr2:71526241	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347213027	rs_2545491750	1 SubmittersRCV002310010
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)	SNV Unknown	Chr2:71665252	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347221083	rs_2546547546	1 SubmittersRCV002310053
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.697A>T (p.Lys233Ter)	SNV Unknown	Chr2:71513859	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347207385	rs_2545396702	1 SubmittersRCV002307876
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)	SNV Unknown	Chr2:71570280	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347216520	rs_2545819541	1 SubmittersRCV002307952
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)	SNV Unknown	Chr2:71568256	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347214738	rs_1324029651	1 SubmittersRCV002308036
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)	SNV Unknown	Chr2:71513904	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347207611	rs_2545397244	1 SubmittersRCV002308195
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)	SNV Unknown	Chr2:71553817	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347218812	rs_2545694520	1 SubmittersRCV002308262
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)	SNV Unknown	Chr2:71561774	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347208705	rs_369209261	1 SubmittersRCV002309053
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)	SNV Unknown	Chr2:71564178	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347211719	rs_2545770353	1 SubmittersRCV002309060
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)	SNV Unknown	Chr2:71669720	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347224057	rs_2546579917	1 SubmittersRCV002306860
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)	SNV Unknown	Chr2:71665180	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Single Submitter	CA347220938	rs_2546546851	1 SubmittersRCV002307253
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)	SNV Unknown	Chr2:71644036	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter	CA347218020	rs_2546398668	1 SubmittersRCV002310270
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)	SNV Germline	Chr2:71574267	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347218183	rs_144599077	2 SubmittersRCV002468702
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.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.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.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.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.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.4755+1G>A	SNV Germline	Chr2:71656291	Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1707118	rs_754039882	2 SubmittersRCV003144854 RCV003459787
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)	SNV Germline	Chr2:71570604	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347216898	rs_1424933941	2 SubmittersRCV003226741 RCV003466044
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)	SNV Unknown	Chr11:22274619	Likely pathogenic	Miyoshi muscular dystrophy 3	Criteria Provided Single Submitter	CA379924181	rs_2494386556	1 SubmittersRCV003314317
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)	SNV Germline	Chr2:71643987	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA347217851	rs_2094528176	2 SubmittersRCV003340929 RCV003466067
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)	SNV Unknown	Chr2:71682554	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347226984	rs_1288867889	1 SubmittersRCV003460000
NM_001130987.2(DYSF):c.5642+2T>A	SNV Unknown	Chr2:71669209	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347223195	rs_2546575776	1 SubmittersRCV003467869
NM_001130987.2(DYSF):c.1807-2A>G	SNV Unknown	Chr2:71553009	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347218279	rs_2545685225	1 SubmittersRCV003467870
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)	SNV Unknown	Chr2:71526331	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347213580	rs_778673716	1 SubmittersRCV003467872
NM_001130987.2(DYSF):c.1002+1G>A	SNV Unknown	Chr2:71517040	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347210332	rs_2545428157	1 SubmittersRCV003460003
NM_001130987.2(DYSF):c.5458-2A>G	SNV Unknown	Chr2:71668752	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347221649	rs_398123792	1 SubmittersRCV003467873
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.3672C>G (p.Tyr1224Ter)	SNV Germline	Chr2:71598661	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347224046	rs_143393575	3 SubmittersRCV003460004 RCV005616640 RCV005602045
NM_001130987.2(DYSF):c.1806+1G>T	SNV Unknown	Chr2:71551721	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347217828	rs_1216569807	1 SubmittersRCV003467876
NM_001130987.2(DYSF):c.760-2A>G	SNV Unknown	Chr2:71515621	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347208295	rs_2086573243	1 SubmittersRCV003467877
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)	SNV Germline	Chr2:71568080	Likely pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347214045	rs_1574042462	3 SubmittersRCV003460007 RCV005636938 RCV004801349
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)	SNV Unknown	Chr2:71520822	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347212004	rs_1289536335	1 SubmittersRCV003467883
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)	SNV Germline	Chr2:71679149	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA347226407	rs_1356633122	2 SubmittersRCV003460011 RCV004999944
NM_001130987.2(DYSF):c.1984+2T>A	SNV Unknown	Chr2:71553190	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347218781	rs_2152791033	1 SubmittersRCV003467884
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)	SNV Unknown	Chr2:71574229	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347218046	rs_2545875669	1 SubmittersRCV003467886
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.5642+3A>G	SNV Unknown	Chr2:71669210	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA1707452	rs_781127839	1 SubmittersRCV003467887
NM_001130987.2(DYSF):c.2110-1G>A	SNV Unknown	Chr2:71555964	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347219060	rs_1228463747	1 SubmittersRCV003467889
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)	SNV Unknown	Chr2:71679162	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347226442	rs_2152967860	1 SubmittersRCV003467890
NM_001130987.2(DYSF):c.2217-1G>A	SNV Unknown	Chr2:71561751	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347208480	rs_886044379	1 SubmittersRCV003467892
NM_003494.4(DYSF):c.88+1G>A	SNV Unknown	Chr2:71454087	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter	CA347206538	rs_2466864021	1 SubmittersRCV003460017
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.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.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.1003-1G>A	SNV Germline	Chr2:71520177	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2545453932	2 SubmittersRCV004576129 RCV004576128
NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)	SNV Germline	Chr2:71679153	Pathogenic	Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Single Submitter		rs_892133012	2 SubmittersRCV004575857 RCV004731661
NM_001130987.2(DYSF):c.5175-1G>A	SNV Unknown	Chr2:71665161	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2546546694	1 SubmittersRCV004575860
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.1902C>A (p.Ser634Arg)	SNV Germline	Chr2:71553106	Conflicting classifications of pathogenicity	Miyoshi muscular dystrophy 1 not specified	Criteria Provided Conflicting Classifications		rs_1573943032	2 SubmittersRCV004575863 RCV005419758
NM_001130987.2(DYSF):c.6321+1G>C	SNV Germline	Chr2:71682678	Likely pathogenic	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		rs_2546653051	2 SubmittersRCV004575864 RCV005038718
NM_001130987.2(DYSF):c.3228+2T>C	SNV Unknown	Chr2:71570743	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2545824673	1 SubmittersRCV004575865
NM_001130987.2(DYSF):c.1494-1G>C	SNV Unknown	Chr2:71539156	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_398123768	1 SubmittersRCV004575866
NM_001130987.2(DYSF):c.951+2T>C	SNV Unknown	Chr2:71516244	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_886042590	1 SubmittersRCV004575868
NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)	SNV Unknown	Chr2:71553118	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_35721373	1 SubmittersRCV004575869
NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)	SNV Unknown	Chr2:71669127	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2095071693	1 SubmittersRCV004575870
NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)	SNV Germline	Chr11:22239652	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005046678 RCV005223189
NM_001130987.2(DYSF):c.1150-2A>G	SNV Germline	Chr2:71526218	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032404
NM_001130987.2(DYSF):c.1493+1G>T	SNV Germline	Chr2:71535312	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032405
NM_001130987.2(DYSF):c.1806+2T>A	SNV Germline	Chr2:71551722	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005026754
NM_001130987.2(DYSF):c.1984+1G>A	SNV Germline	Chr2:71553189	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032407
NM_001130987.2(DYSF):c.2713A>T (p.Lys905Ter)	SNV Germline	Chr2:71568187	Pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005032409
NM_001130987.2(DYSF):c.3082C>T (p.Gln1028Ter)	SNV Germline	Chr2:71570331	Pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005026756
NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)	SNV Germline	Chr2:71570640	Likely pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005026758
NM_001130987.2(DYSF):c.6020G>A (p.Trp2007Ter)	SNV Germline	Chr2:71679192	Pathogenic	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Single Submitter			1 SubmittersRCV005026765
NM_001130987.2(DYSF):c.5458G>A (p.Gly1820Arg)	SNV Germline	Chr2:71668754	Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel			2 SubmittersRCV005254150 RCV005602713

NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)

SNV
Germline

Chr11:22255485

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy
ANO5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA224408

rs_137854524

10 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889 RCV004732524

NM_213599.3(ANO5):c.692G>T (p.Gly231Val)

SNV
Germline

Chr11:22236206

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Acute rhabdomyolysis
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA224418

rs_137854523

30 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000825558 RCV000762830 RCV003993729 RCV003993730 RCV005865150 RCV005887208 RCV005887209

NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)

SNV
Germline

Chr11:22274605

Pathogenic

Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy
ANO5 Muscle Disease

Reviewed By Expert Panel

CA130516

rs_137854529

22 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162 RCV004998071 RCV005249979

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.991G>T (p.Gly331Trp)

SNV
Germline

Chr2:71517028

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253918

rs_121908963

5 SubmittersRCV000007069 RCV000594920 RCV003159090 RCV006252416

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_213599.3(ANO5):c.1407+5G>A

SNV
Germline

Chr11:22257759

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA343748

rs_281865464

4 SubmittersRCV000032968 RCV000032553 RCV001091512 RCV006555352

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_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.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.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.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.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.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.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.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_213599.3(ANO5):c.1733T>C (p.Phe578Ser)

SNV
Germline

Chr11:22262231

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA232785

rs_137854526

13 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119

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.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.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.1439T>C (p.Leu480Pro)

SNV
Germline

Chr2:71535079

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
not specified
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA240279

rs_794727119

5 SubmittersRCV000174707 RCV000674572 RCV003468855 RCV005237647 RCV005864457

NM_213599.3(ANO5):c.1898+1G>A

SNV
Germline

Chr11:22263044

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Reviewed By Expert Panel

CA201366

rs_142027093

17 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118 RCV005864458 RCV005632283

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.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.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.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.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_213599.3(ANO5):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr11:22218279

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
ANO5-related disorder
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Reviewed By Expert Panel

CA202865

rs_201725369

21 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002 RCV004732749 RCV005042389

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.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.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.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.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.460+2T>G

SNV
Germline

Chr2:71511923

Conflicting classifications of pathogenicity

not specified
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
Familial cancer of breast
Acute myeloid leukemia
Familial pancreatic carcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA1705352

rs_750356247

4 SubmittersRCV000264961 RCV000986769 RCV005025414 RCV005895495 RCV005895496 RCV005895498 RCV005895497

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.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.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_213599.3(ANO5):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr11:22262138

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923316

rs_139618850

7 SubmittersRCV000322343 RCV000807697 RCV000758149 RCV003323487 RCV005044527

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.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.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.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.5561G>T (p.Cys1854Phe)

SNV
Germline

Chr2:71669126

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604436

rs_886042584

4 SubmittersRCV000725239 RCV000595427 RCV003463747

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.6064-1G>C

SNV
Germline

Chr2:71681000

Pathogenic/Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604506

rs_886042636

2 SubmittersRCV000307535 RCV003469229

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.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.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.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.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.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.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.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_213599.3(ANO5):c.2498T>A (p.Met833Lys)

SNV
Germline

Chr11:22276177

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923597

rs_142073798

11 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129 RCV005355594

NM_213599.3(ANO5):c.2256G>A (p.Thr752=)

SNV
Germline

Chr11:22274589

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Conflicting Classifications

CA5923512

rs_144048656

9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259770 RCV002259772

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.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.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_213599.3(ANO5):c.1103C>T (p.Thr368Met)

SNV
Germline

Chr11:22250830

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5923127

rs_760792371

6 SubmittersRCV000355856 RCV002521946 RCV005044536 RCV005409646 RCV005418048

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_213599.3(ANO5):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr11:22262162

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Muscular dystrophy
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923318

rs_375014127

13 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585 RCV005044538 RCV005416272 RCV006249374

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_213599.3(ANO5):c.169C>T (p.Arg57Trp)

SNV
Germline

Chr11:22218276

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Conflicting Classifications

CA379924809

rs_1323349209

5 SubmittersRCV000497926 RCV000688833 RCV001254061

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.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.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.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_213599.3(ANO5):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr11:22218255

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA379924765

rs_1168346560

3 SubmittersRCV000545507 RCV000762829 RCV005000183

NM_001130987.2(DYSF):c.5546+2T>A

SNV
Germline

Chr2:71668844

Pathogenic/Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347222015

rs_1553415233

2 SubmittersRCV000579204 RCV004568239

NM_001130987.2(DYSF):c.3085+1G>T

SNV
Germline

Chr2:71570335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347216871

rs_1553555585

2 SubmittersRCV000590966 RCV005409680

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.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.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.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.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.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.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.6028T>C (p.Cys2010Arg)

SNV
Germline

Chr2:71679200

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA347226529

rs_1553420858

2 SubmittersRCV000596899 RCV004568316

NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)

SNV
Germline

Chr11:22270378

Pathogenic/Likely pathogenic

Elevated circulating creatine kinase concentration
Fatty replacement of skeletal muscle
Distal muscle weakness
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923415

rs_760137559

4 SubmittersRCV000627022 RCV001860483 RCV005409691 RCV006459690

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.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.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_213599.3(ANO5):c.1120-1G>A

SNV
Germline

Chr11:22250950

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923150

rs_561719071

4 SubmittersRCV000645351 RCV000729498 RCV003117452 RCV006605288

NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)

SNV
Germline

Chr11:22272871

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
not specified
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218775842

rs_926233739

6 SubmittersRCV000645356 RCV000729727 RCV004586850 RCV005046830

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.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.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.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_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.1449+1G>A

SNV
Germline

Chr2:71535090

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347215726

rs_1553535902

2 SubmittersRCV000670711 RCV005409713

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.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.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.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.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.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.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.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_213599.3(ANO5):c.1982T>C (p.Leu661Pro)

SNV
Germline

Chr11:22270395

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
not specified
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379923407

rs_1472414854

3 SubmittersRCV001973711 RCV004690208 RCV005042631

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.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr2:71611278

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347228166

rs_1558613592

2 SubmittersRCV000785919 RCV005409736

NM_001130987.2(DYSF):c.1149+3G>C

SNV
Germline

Chr2:71520907

Pathogenic/Likely pathogenic

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
Multiple Submitters
No Conflicts

CA915944007

rs_1573704236

2 SubmittersRCV000993851 RCV005029453

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.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.5842C>T (p.Gln1948Ter)

SNV
Unknown

Chr2:71674254

Likely pathogenic

Distal lower limb muscle weakness
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347225264

rs_1573138313

2 SubmittersRCV000850339 RCV003461294

NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)

SNV
Germline

Chr11:22257706

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923225

rs_754889480

4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437

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

SNV
Germline

Chr2:71520905

Pathogenic

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

Reviewed By Expert Panel

CA347212236

rs_398123763

3 SubmittersRCV000997158 RCV005029554 RCV005601641

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.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.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.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.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.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.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.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.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.118A>T (p.Lys40Ter)

SNV
Unknown

Chr2:71480909

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216014

rs_2082829594

1 SubmittersRCV001264239

NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)

SNV
Unknown

Chr2:71481924

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216396

rs_2082945195

1 SubmittersRCV001264240

NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:71515641

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347208373

rs_759065714

1 SubmittersRCV001264241

NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)

SNV
Unknown

Chr2:71526338

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213635

rs_2087900330

1 SubmittersRCV001264242

NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)

SNV
Unknown

Chr2:71535066

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347215677

rs_2089169741

1 SubmittersRCV001264243

NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)

SNV
Unknown

Chr2:71551081

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217373

rs_2090909751

1 SubmittersRCV001264244

NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)

SNV
Unknown

Chr2:71553831

Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347218841

rs_2091142154

1 SubmittersRCV001264245

NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)

SNV
Unknown

Chr2:71553861

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347218903

rs_2091144091

1 SubmittersRCV001264246

NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)

SNV
Unknown

Chr2:71564211

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347211901

rs_2091951931

1 SubmittersRCV001263671

NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)

SNV
Unknown

Chr2:71567963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213101

rs_2092205152

1 SubmittersRCV001263673

NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)

SNV
Unknown

Chr2:71568021

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213610

rs_2092208616

1 SubmittersRCV001263674

NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)

SNV
Unknown

Chr2:71568029

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213684

rs_2092209337

1 SubmittersRCV001263675

NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)

SNV
Unknown

Chr2:71568035

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213735

rs_2092210085

1 SubmittersRCV001263676

NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)

SNV
Unknown

Chr2:71568059

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213907

rs_2092211777

1 SubmittersRCV001263677

NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)

SNV
Unknown

Chr2:71568327

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347215317

rs_2092231526

1 SubmittersRCV001263678

NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)

SNV
Unknown

Chr2:71570262

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216447

rs_763925689

1 SubmittersRCV001263962

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.3179G>A (p.Trp1060Ter)

SNV
Unknown

Chr2:71570692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217073

rs_2092369130

1 SubmittersRCV001263964

NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)

SNV
Unknown

Chr2:71574210

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217954

rs_1666836481

1 SubmittersRCV001263965

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.3559A>T (p.Lys1187Ter)

SNV
Unknown

Chr2:71590273

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220852

rs_2093222376

1 SubmittersRCV001263967

NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)

SNV
Unknown

Chr2:71598640

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223846

rs_2093464314

1 SubmittersRCV001263968

NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)

SNV
Germline

Chr2:71598661

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347224044

rs_143393575

3 SubmittersRCV001263969 RCV001780216 RCV003469492

NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)

SNV
Unknown

Chr2:71598668

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347224121

rs_773773555

1 SubmittersRCV001264128

NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)

SNV
Unknown

Chr2:71600840

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347225716

rs_1462064763

1 SubmittersRCV001264129

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.4888C>T (p.Gln1630Ter)

SNV
Unknown

Chr2:71659010

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347219870

rs_2094828804

1 SubmittersRCV001264131

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.4999G>T (p.Gly1667Ter)

SNV
Unknown

Chr2:71660647

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220121

rs_868779799

1 SubmittersRCV001264133

NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)

SNV
Germline

Chr2:71664425

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
Condition: not provided
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA1707263

rs_758992291

6 SubmittersRCV001264134 RCV003399036 RCV003145501 RCV003469493

NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)

SNV
Unknown

Chr2:71665226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221029

rs_1342179740

1 SubmittersRCV001264135

NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)

SNV
Unknown

Chr2:71665238

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221057

rs_2094975129

1 SubmittersRCV001264255

NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)

SNV
Unknown

Chr2:71665283

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221149

rs_2094975881

1 SubmittersRCV001264256

NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)

SNV
Unknown

Chr2:71665295

Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347221175

rs_2094976185

1 SubmittersRCV001264257

NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)

SNV
Unknown

Chr2:71665304

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221196

rs_2094976441

1 SubmittersRCV001264258

NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)

SNV
Unknown

Chr2:71669182

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223021

rs_2095073059

1 SubmittersRCV001264259

NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)

SNV
Unknown

Chr2:71669203

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223148

rs_1320752132

1 SubmittersRCV001264260

NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)

SNV
Unknown

Chr2:71681046

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347226788

rs_2095289978

1 SubmittersRCV001264261

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_213599.3(ANO5):c.2116C>T (p.Arg706Ter)

SNV
Unknown

Chr11:22272870

Pathogenic

Miyoshi muscular dystrophy 3

Criteria Provided
Single Submitter

CA5923458

rs_768835530

1 SubmittersRCV001330859

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_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.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.4756-1G>A

SNV
Germline

Chr2:71658877

Pathogenic/Likely pathogenic

Abnormality of the musculature
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347219585

rs_2152940909

2 SubmittersRCV001814577 RCV003463048

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.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_213599.3(ANO5):c.294+5G>A

SNV
Germline

Chr11:22221215

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2573053480

rs_2133589044

3 SubmittersRCV001787237 RCV005213595 RCV005409837

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_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.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.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.2472C>A (p.Tyr824Ter)

SNV
Germline

Chr2:71564120

Pathogenic

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
Single Submitter

CA347211347

rs_765420779

2 SubmittersRCV002287921 RCV005025766

NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)

SNV
Germline

Chr2:71570648

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347216989

rs_2545823705

2 SubmittersRCV002306506 RCV003491083

NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)

SNV
Unknown

Chr2:71665280

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221143

rs_2094975847

1 SubmittersRCV002306561

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.1171G>T (p.Glu391Ter)

SNV
Unknown

Chr2:71526241

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213027

rs_2545491750

1 SubmittersRCV002310010

NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)

SNV
Unknown

Chr2:71665252

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221083

rs_2546547546

1 SubmittersRCV002310053

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.697A>T (p.Lys233Ter)

SNV
Unknown

Chr2:71513859

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347207385

rs_2545396702

1 SubmittersRCV002307876

NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)

SNV
Unknown

Chr2:71570280

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216520

rs_2545819541

1 SubmittersRCV002307952

NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)

SNV
Unknown

Chr2:71568256

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347214738

rs_1324029651

1 SubmittersRCV002308036

NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)

SNV
Unknown

Chr2:71513904

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347207611

rs_2545397244

1 SubmittersRCV002308195

NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)

SNV
Unknown

Chr2:71553817

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347218812

rs_2545694520

1 SubmittersRCV002308262

NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)

SNV
Unknown

Chr2:71561774

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347208705

rs_369209261

1 SubmittersRCV002309053

NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)

SNV
Unknown

Chr2:71564178

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347211719

rs_2545770353

1 SubmittersRCV002309060

NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)

SNV
Unknown

Chr2:71669720

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347224057

rs_2546579917

1 SubmittersRCV002306860

NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)

SNV
Unknown

Chr2:71665180

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220938

rs_2546546851

1 SubmittersRCV002307253

NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)

SNV
Unknown

Chr2:71644036

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347218020

rs_2546398668

1 SubmittersRCV002310270

NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)

SNV
Germline

Chr2:71574267

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347218183

rs_144599077

2 SubmittersRCV002468702

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.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.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.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.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.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.4755+1G>A

SNV
Germline

Chr2:71656291

Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1707118

rs_754039882

2 SubmittersRCV003144854 RCV003459787

NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)

SNV
Germline

Chr2:71570604

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347216898

rs_1424933941

2 SubmittersRCV003226741 RCV003466044

NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)

SNV
Unknown

Chr11:22274619

Likely pathogenic

Miyoshi muscular dystrophy 3

Criteria Provided
Single Submitter

CA379924181

rs_2494386556

1 SubmittersRCV003314317

NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)

SNV
Germline

Chr2:71643987

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347217851

rs_2094528176

2 SubmittersRCV003340929 RCV003466067

NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)

SNV
Unknown

Chr2:71682554

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347226984

rs_1288867889

1 SubmittersRCV003460000

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

SNV
Unknown

Chr2:71669209

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347223195

rs_2546575776

1 SubmittersRCV003467869

NM_001130987.2(DYSF):c.1807-2A>G

SNV
Unknown

Chr2:71553009

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347218279

rs_2545685225

1 SubmittersRCV003467870

NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)

SNV
Unknown

Chr2:71526331

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347213580

rs_778673716

1 SubmittersRCV003467872

NM_001130987.2(DYSF):c.1002+1G>A

SNV
Unknown

Chr2:71517040

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347210332

rs_2545428157

1 SubmittersRCV003460003

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

SNV
Unknown

Chr2:71668752

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347221649

rs_398123792

1 SubmittersRCV003467873

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.3672C>G (p.Tyr1224Ter)

SNV
Germline

Chr2:71598661

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347224046

rs_143393575

3 SubmittersRCV003460004 RCV005616640 RCV005602045

NM_001130987.2(DYSF):c.1806+1G>T

SNV
Unknown

Chr2:71551721

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347217828

rs_1216569807

1 SubmittersRCV003467876

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

SNV
Unknown

Chr2:71515621

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347208295

rs_2086573243

1 SubmittersRCV003467877

NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)

SNV
Germline

Chr2:71568080

Likely pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347214045

rs_1574042462

3 SubmittersRCV003460007 RCV005636938 RCV004801349

NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)

SNV
Unknown

Chr2:71520822

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347212004

rs_1289536335

1 SubmittersRCV003467883

NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)

SNV
Germline

Chr2:71679149

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347226407

rs_1356633122

2 SubmittersRCV003460011 RCV004999944

NM_001130987.2(DYSF):c.1984+2T>A

SNV
Unknown

Chr2:71553190

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347218781

rs_2152791033

1 SubmittersRCV003467884

NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)

SNV
Unknown

Chr2:71574229

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347218046

rs_2545875669

1 SubmittersRCV003467886

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.5642+3A>G

SNV
Unknown

Chr2:71669210

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA1707452

rs_781127839

1 SubmittersRCV003467887

NM_001130987.2(DYSF):c.2110-1G>A

SNV
Unknown

Chr2:71555964

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347219060

rs_1228463747

1 SubmittersRCV003467889

NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)

SNV
Unknown

Chr2:71679162

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347226442

rs_2152967860

1 SubmittersRCV003467890

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

SNV
Unknown

Chr2:71561751

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347208480

rs_886044379

1 SubmittersRCV003467892

NM_003494.4(DYSF):c.88+1G>A

SNV
Unknown

Chr2:71454087

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347206538

rs_2466864021

1 SubmittersRCV003460017

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.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.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.1003-1G>A

SNV
Germline

Chr2:71520177

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2545453932

2 SubmittersRCV004576129 RCV004576128

NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)

SNV
Germline

Chr2:71679153

Pathogenic

Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Single Submitter

rs_892133012

2 SubmittersRCV004575857 RCV004731661

NM_001130987.2(DYSF):c.5175-1G>A

SNV
Unknown

Chr2:71665161

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2546546694

1 SubmittersRCV004575860

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.1902C>A (p.Ser634Arg)

SNV
Germline

Chr2:71553106

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
not specified

Criteria Provided
Conflicting Classifications

rs_1573943032

2 SubmittersRCV004575863 RCV005419758

NM_001130987.2(DYSF):c.6321+1G>C

SNV
Germline

Chr2:71682678

Likely pathogenic

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

rs_2546653051

2 SubmittersRCV004575864 RCV005038718

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

SNV
Unknown

Chr2:71570743

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2545824673

1 SubmittersRCV004575865

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

SNV
Unknown

Chr2:71539156

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_398123768

1 SubmittersRCV004575866

NM_001130987.2(DYSF):c.951+2T>C

SNV
Unknown

Chr2:71516244

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_886042590

1 SubmittersRCV004575868

NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)

SNV
Unknown

Chr2:71553118

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_35721373

1 SubmittersRCV004575869

NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)

SNV
Unknown

Chr2:71669127

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2095071693

1 SubmittersRCV004575870

NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)

SNV
Germline

Chr11:22239652

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005046678 RCV005223189

NM_001130987.2(DYSF):c.1150-2A>G

SNV
Germline

Chr2:71526218

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005032404

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

SNV
Germline

Chr2:71535312