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	Criteria Provided Multiple Submitters No Conflicts	CA224408	rs_137854524	8 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889
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 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Hereditary fructosuria Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA224418	rs_137854523	26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	SNV Germline	Chr11:22274605	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	CA130516	rs_137854529	20 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)	SNV Germline	Chr2:71553071	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA253901	rs_121908953	3 SubmittersRCV000007047 RCV000301362 RCV003574697
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	SNV Germline	Chr2:71602794	Conflicting classifications of pathogenicity	Miyoshi muscular dystrophy 1 not specified Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset DYSF-related disorder	Criteria Provided Conflicting Classifications	CA179991	rs_121908954	15 SubmittersRCV000007049 RCV000153183 RCV000509353 RCV000658868 RCV000681611 RCV001563901 RCV004547461
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	SNV Germline	Chr2:71682597	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA222203	rs_121908955	13 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)	SNV Germline	Chr2:71564074	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222139	rs_121908956	3 SubmittersRCV000007055 RCV000007056 RCV000807968 RCV000790785
NM_001130987.2(DYSF):c.5174+5G>A	SNV Germline	Chr2:71664443	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA253906	rs_745891180	5 SubmittersRCV000007057 RCV001781198 RCV001851715 RCV002298436 RCV003466824
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	SNV Germline	Chr2:71570300	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222147	rs_28937581	9 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	SNV Germline	Chr2:71570704	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Condition: not provided Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222152	rs_121908958	9 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764
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 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA118412	rs_121908959	12 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)	SNV Germline	Chr2:71551073	Conflicting classifications of pathogenicity	Miyoshi muscular dystrophy 1 Condition: not provided Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA253913	rs_121908962	5 SubmittersRCV000007066 RCV000342783 RCV001048974
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA253916	rs_121908963	7 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)	SNV Germline	Chr2:71517028	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA253918	rs_121908963	4 SubmittersRCV000007069 RCV000594920 RCV003159090
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	SNV Germline	Chr2:71668842	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided 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	CA253922	rs_786205084	6 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993
NM_213599.3(ANO5):c.1407+5G>A	SNV Germline	Chr11:22257759	Pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Single Submitter	CA343748	rs_281865464	3 SubmittersRCV000032968 RCV000032553 RCV001091512
NM_001130987.2(DYSF):c.1149+1G>A	SNV Germline	Chr2:71520905	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided 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	CA222120	rs_398123763	7 SubmittersRCV000174082 RCV000711544 RCV000700616 RCV000763501 RCV003466976
NM_001130987.2(DYSF):c.1380+2T>C	SNV Germline	Chr2:71528403	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA222122	rs_398123765	5 SubmittersRCV000080229 RCV000174526 RCV003466978 RCV003574709
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222125	rs_202044973	8 SubmittersRCV000080232 RCV000174882 RCV000698361 RCV003466979
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222130	rs_398123770	8 SubmittersRCV000175175 RCV000711548 RCV002477229 RCV002514411 RCV003460748
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222133	rs_377735262	9 SubmittersRCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)	SNV Germline	Chr2:71561900	Pathogenic	Condition: not provided Distal myopathy with anterior tibial onset Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222137	rs_398123773	5 SubmittersRCV000176393 RCV001089587 RCV001390522 RCV003466982
NM_001130987.2(DYSF):c.2697+1G>A	SNV Germline	Chr2:71568083	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222141	rs_140108514	14 SubmittersRCV000080255 RCV000233433 RCV000176550 RCV000697172 RCV000763504 RCV003415848
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)	SNV Germline	Chr2:71598577	Conflicting classifications of pathogenicity	not specified Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Conflicting Classifications	CA152665	rs_79899601	11 SubmittersRCV000116928 RCV000307614 RCV000343725 RCV000711556 RCV001082923 RCV001449951 RCV001276445
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)	SNV Germline	Chr2:71511847	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Muscular dystrophy Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided DYSF-related disorder Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA147747	rs_34997054	18 SubmittersRCV000080277 RCV000210633 RCV000499917 RCV000527027 RCV000675166 RCV001449935 RCV001573049 RCV003891555 RCV003993796
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222164	rs_398123787	10 SubmittersRCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)	SNV Germline	Chr2:71643993	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA222170	rs_398123788	4 SubmittersRCV000080290 RCV001854416 RCV003460752
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)	SNV Germline	Chr2:71644058	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Miyoshi myopathy Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA147760	rs_7573406	10 SubmittersRCV000080291 RCV000281446 RCV000378288 RCV000542076 RCV001271543 RCV001449941
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222174	rs_398123789	9 SubmittersRCV000178524 RCV000790739 RCV000794872 RCV003466985
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)	SNV Germline	Chr2:71659033	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B not specified Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA222176	rs_141704244	8 SubmittersRCV000080297 RCV000548178 RCV001271548 RCV002222381 RCV003466986 RCV004549503
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)	SNV Germline	Chr2:71513767	Conflicting classifications of pathogenicity	not specified Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA147766	rs_34999029	14 SubmittersRCV000080300 RCV000531528 RCV001273964 RCV001449921 RCV001699034
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)	SNV Germline	Chr2:71669191	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Abnormality of the musculature Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222190	rs_398123794	7 SubmittersRCV000178688 RCV000790680 RCV001384247 RCV001814049 RCV003466987
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)	SNV Germline	Chr2:71513868	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222201	rs_373585652	8 SubmittersRCV000179424 RCV000693273 RCV000711569 RCV003114244 RCV003474680
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)	SNV Germline	Chr2:71682612	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA222205	rs_150834671	8 SubmittersRCV000308010 RCV000407709 RCV000543402 RCV000725370 RCV001276874 RCV001449586
NM_001130987.2(DYSF):c.759+1G>C	SNV Germline	Chr2:71513922	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided 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	CA222207	rs_398123800	5 SubmittersRCV000179423 RCV000790678 RCV001386483 RCV003474681 RCV002498413
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)	SNV Germline	Chr2:71515714	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222210	rs_398123802	8 SubmittersRCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)	SNV Germline	Chr2:71516998	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA222222	rs_398123808	3 SubmittersRCV000080334 RCV003236666 RCV003460754
NM_001130987.2(DYSF):c.1033+1G>A	SNV Germline	Chr2:71520209	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided 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 Multiple Submitters No Conflicts	CA222224	rs_201869739	6 SubmittersRCV000173782 RCV000262780 RCV000801493 RCV001810422 RCV003466991
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	SNV Germline	Chr11:22262231	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA232785	rs_137854526	12 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)	SNV Germline	Chr2:71667441	Pathogenic	Condition: not provided 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 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 DYSF-related disorder Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA233937	rs_727503911	10 SubmittersRCV000323235 RCV000809801 RCV000984259 RCV002492572 RCV003917498 RCV003467211
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)	SNV Germline	Chr2:71568318	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA233931	rs_727503910	6 SubmittersRCV000153178 RCV000668306 RCV003462058 RCV003329115
NM_001130987.2(DYSF):c.5642+1G>A	SNV Germline	Chr2:71669208	Pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA233946	rs_727503915	4 SubmittersRCV000407918 RCV000648019 RCV002469027 RCV003467212
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)	SNV Germline	Chr2:71535079	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA240279	rs_794727119	3 SubmittersRCV000174707 RCV000674572 RCV003468855
NM_213599.3(ANO5):c.1898+1G>A	SNV Germline	Chr11:22263044	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA201366	rs_142027093	13 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	SNV Germline	Chr2:71553110	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA241938	rs_201049092	7 SubmittersRCV000176067 RCV000675177 RCV001852168 RCV003235095 RCV003468857
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)	SNV Germline	Chr2:71553842	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset DYSF-related disorder	Criteria Provided Conflicting Classifications	CA242074	rs_139754493	9 SubmittersRCV000292466 RCV000328757 RCV000487642 RCV001085988 RCV001563949 RCV001563948 RCV001563950 RCV003416078
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)	SNV Germline	Chr2:71561870	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 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	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided 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 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA242772	rs_144636654	13 SubmittersRCV000367959 RCV000403556 RCV000725533 RCV001079396 RCV001272822 RCV001449649 RCV001810433 RCV004552986
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 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 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA275204	rs_370874727	4 SubmittersRCV000277199 RCV000701150 RCV000984258 RCV003468863
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)	SNV Germline	Chr2:71600759	Conflicting classifications of pathogenicity	not specified Condition: not provided 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.4021C>G (p.Gln1341Glu)	SNV Germline	Chr2:71611308	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA244881	rs_147950418	9 SubmittersRCV000658869 RCV000691904 RCV001329091
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA275254	rs_794727636	6 SubmittersRCV000178195 RCV000724670 RCV001040341 RCV003462284
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	SNV Germline	Chr11:22218279	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA202865	rs_201725369	16 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)	SNV Germline	Chr2:71643988	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B 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	Criteria Provided Multiple Submitters No Conflicts	CA275268	rs_766016391	9 SubmittersRCV000178461 RCV000527540 RCV000724391 RCV002485170 RCV003468866
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)	SNV Germline	Chr2:71660585	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy DYSF-related disorder	Criteria Provided Conflicting Classifications	CA275275	rs_146384562	14 SubmittersRCV000245703 RCV000711564 RCV001274849 RCV001449590 RCV001085998 RCV002466461 RCV003891739
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	Criteria Provided Multiple Submitters No Conflicts	CA275391	rs_794727851	3 SubmittersRCV000179815 RCV000724796 RCV004567382
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)	SNV Germline	Chr2:71515666	Conflicting classifications of pathogenicity	Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA247174	rs_150917600	7 SubmittersRCV000706741 RCV000656845 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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA275400	rs_141497053	6 SubmittersRCV000179859 RCV000984257 RCV002265663 RCV001852238 RCV003468872
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)	SNV Germline	Chr2:71665182	Pathogenic/Likely pathogenic	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 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	CA277606	rs_746873768	9 SubmittersRCV000201076 RCV000255415 RCV000531181 RCV000763503 RCV003468914
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 Qualitative or quantitative defects of dysferlin Abnormality of the musculature Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA277609	rs_369607332	11 SubmittersRCV000201098 RCV000255805 RCV000526163 RCV001814110 RCV003462352
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	SNV Germline	Chr2:71665181	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA279083	rs_863225021	8 SubmittersRCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	SNV Germline	Chr2:71570680	Pathogenic/Likely pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1706448	rs_150877497	14 SubmittersRCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174
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 Abnormality of the musculature Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10588346	rs_746315830	7 SubmittersRCV000254734 RCV001004980 RCV001089583 RCV001814129 RCV001855002
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)	SNV Germline	Chr2:71526295	Pathogenic/Likely pathogenic	Condition: not provided 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 DYSF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1705654	rs_758180890	8 SubmittersRCV000255632 RCV000817143 RCV000763502 RCV003463719 RCV003993912 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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10588347	rs_886039573	7 SubmittersRCV000254712 RCV000597734 RCV001381504 RCV003463720
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)	SNV Germline	Chr2:71611483	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin not specified Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706889	rs_199870606	6 SubmittersRCV000408314 RCV000802767 RCV001804995 RCV003469216
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)	SNV Germline	Chr2:71553135	Conflicting classifications of pathogenicity	not specified Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705983	rs_141867897	8 SubmittersRCV000274204 RCV000710126 RCV001329088 RCV001084090 RCV003920032
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)	SNV Germline	Chr2:71590246	Pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10603799	rs_886042091	6 SubmittersRCV000518638 RCV001247365 RCV001828174 RCV003469217
NM_001130987.2(DYSF):c.5003+1249G>T	SNV Germline	Chr2:71661900	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10603819	rs_886042110	4 SubmittersRCV000353624 RCV000591407 RCV001855080 RCV003469219
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)	SNV Germline	Chr2:71682536	Conflicting classifications of pathogenicity	not specified Condition: not provided 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	7 SubmittersRCV000315999 RCV000540445 RCV001081387 RCV001449592 RCV001833308
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)	SNV Germline	Chr2:71535087	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 not specified	Criteria Provided Conflicting Classifications	CA1705737	rs_141818764	11 SubmittersRCV000300999 RCV000358093 RCV000711546 RCV001084088 RCV001276725 RCV001449924 RCV001820812
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	SNV Germline	Chr11:22262138	Conflicting classifications of pathogenicity	Condition: not provided ANO5-related disorder 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	Criteria Provided Conflicting Classifications	CA5923316	rs_139618850	6 SubmittersRCV000322343 RCV000778318 RCV000758149 RCV000807697 RCV003323487
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)	SNV Germline	Chr2:71526334	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10604166	rs_886042389	5 SubmittersRCV000292426 RCV000725084 RCV001070518 RCV003469225 RCV003317179
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1706450	rs_760443264	7 SubmittersRCV000351237 RCV000665378 RCV001297834 RCV003469226
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 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	8 SubmittersRCV000266653 RCV000725114 RCV000757894 RCV001141002 RCV001810440 RCV003463743
NM_001130987.2(DYSF):c.2409+1G>A	SNV Germline	Chr2:71561945	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604289	rs_151317754	4 SubmittersRCV000261362 RCV000349131 RCV001379694 RCV003463745
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)	SNV Germline	Chr2:71669126	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604436	rs_886042584	3 SubmittersRCV000595427 RCV000725239 RCV003463747
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)	SNV Germline	Chr2:71551676	Pathogenic/Likely pathogenic	Condition: not provided 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	CA10604502	rs_886042633	3 SubmittersRCV000259897 RCV001859579 RCV001727667
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)	SNV Germline	Chr2:71644013	Pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10604504	rs_886042635	3 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 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1707510	rs_753861836	10 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 Qualitative or quantitative defects of dysferlin Inborn genetic diseases 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	CA1705480	rs_140002194	10 SubmittersRCV000488274 RCV001142308 RCV002518899 RCV002494838 RCV001828197
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)	SNV Germline	Chr2:71564125	Conflicting classifications of pathogenicity	Miyoshi myopathy Condition: not provided Limb-girdle muscular dystrophy, recessive 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	CA1706183	rs_35297901	8 SubmittersRCV000271598 RCV000356959 RCV000366269 RCV000695150 RCV001271793 RCV002487214
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)	SNV Germline	Chr2:71570626	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B 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	CA1706432	rs_764931697	7 SubmittersRCV000313635 RCV000666376 RCV000701610 RCV002494839
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)	SNV Germline	Chr2:71569884	Pathogenic/Likely pathogenic	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 Qualitative or quantitative defects of dysferlin DYSF-related disorder Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1706331	rs_202218890	12 SubmittersRCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231
NM_001130987.2(DYSF):c.5458-1G>A	SNV Germline	Chr2:71668753	Pathogenic	Condition: not provided 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/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B 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 Multiple Submitters No Conflicts	CA1705479	rs_149827237	11 SubmittersRCV000595594 RCV001254624 RCV001379021 RCV002502122 RCV003469232
NM_001130987.2(DYSF):c.3085+2T>C	SNV Germline	Chr2:71570336	Pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10604913	rs_886042951	5 SubmittersRCV000280615 RCV001037309 RCV001828208 RCV003469233
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)	SNV Germline	Chr2:71598667	Conflicting classifications of pathogenicity	not specified Condition: not provided 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.3125C>T (p.Pro1042Leu)	SNV Germline	Chr2:71570638	Conflicting classifications of pathogenicity	Condition: not provided 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 Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA5923597	rs_142073798	9 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129
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 Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5923512	rs_144048656	9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259772 RCV002259770
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)	SNV Germline	Chr2:71612772	Pathogenic	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	4 SubmittersRCV000556431 RCV000597200 RCV002494847 RCV003463761
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707338	rs_145272777	10 SubmittersRCV000374736 RCV000664874 RCV000778917 RCV001329706 RCV001563739 RCV003940011
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)	SNV Germline	Chr2:71539161	Conflicting classifications of pathogenicity	Condition: not provided 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	CA1705795	rs_185119682	5 SubmittersRCV000335981 RCV000535143 RCV001274443 RCV002480026
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	SNV Germline	Chr2:71667477	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1707356	rs_746243052	11 SubmittersRCV000294536 RCV000725796 RCV000817667 RCV003114448 RCV003469237
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	SNV Germline	Chr11:22262162	Pathogenic/Likely pathogenic	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	Criteria Provided Multiple Submitters No Conflicts	CA5923318	rs_375014127	9 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)	SNV Germline	Chr2:71556003	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications	CA1706066	rs_201239189	4 SubmittersRCV000392895 RCV001088299 RCV001271786 RCV001563802 RCV001563803
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Primary dilated cardiomyopathy DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1707599	rs_115407852	13 SubmittersRCV000356385 RCV000487973 RCV000675073 RCV001085395 RCV001449928 RCV003448906 RCV004549599
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)	SNV Germline	Chr2:71520904	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Miyoshi myopathy not specified Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1705617	rs_199955501	9 SubmittersRCV000264345 RCV000356789 RCV000402278 RCV000665200 RCV000726161 RCV001080526 RCV001449952 RCV003897632
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)	SNV Germline	Chr2:71553119	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10606091	rs_886043900	6 SubmittersRCV000597376 RCV000726165 RCV001214514 RCV003469244
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)	SNV Germline	Chr2:71664407	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1707253	rs_141137410	10 SubmittersRCV000310014 RCV000362344 RCV000388999 RCV000493108 RCV000986770 RCV001079670 RCV001526431
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)	SNV Germline	Chr2:71669608	Pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA10606170	rs_886043966	4 SubmittersRCV000371436 RCV003574728 RCV003469245
NM_001130987.2(DYSF):c.2864+5G>A	SNV Germline	Chr2:71568343	Conflicting classifications of pathogenicity	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA10606385	rs_886044131	4 SubmittersRCV000342909 RCV000647998 RCV000668205 RCV004567837
NM_001130987.2(DYSF):c.1276+5G>A	SNV Germline	Chr2:71526351	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA1705673	rs_766433603	7 SubmittersRCV000675165 RCV000726343 RCV001048102 RCV003463775
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)	SNV Germline	Chr2:71660630	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 Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1707202	rs_144383140	6 SubmittersRCV000348647 RCV002494891 RCV001833403 RCV001240482
NM_001130987.2(DYSF):c.888+1G>A	SNV Germline	Chr2:71515752	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10606682	rs_886044377	5 SubmittersRCV000597496 RCV000726446 RCV003469247 RCV002518120
NM_001130987.2(DYSF):c.1577-1655C>G	SNV Germline	Chr2:71549386	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10606720	rs_886044410	3 SubmittersRCV000404144 RCV003463777 RCV002518128
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)	SNV Germline	Chr2:71613408	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA10606721	rs_886044411	5 SubmittersRCV000306643 RCV000726457 RCV003463778 RCV003736690
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 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 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	CA1706296	rs_150717638	6 SubmittersRCV000380360 RCV001246606 RCV001833413 RCV002480056
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)	SNV Germline	Chr2:71528308	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1705696	rs_769254776	3 SubmittersRCV000347517 RCV000385756 RCV001139798 RCV001526418
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA16604254	rs_1057521141	5 SubmittersRCV000424011 RCV000671182 RCV001861509 RCV003470383
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 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 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L 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/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1706298	rs_199954546	7 SubmittersRCV000512137 RCV001217776 RCV001263253 RCV002286745
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 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	CA1706667	rs_150942486	8 SubmittersRCV000727399 RCV000765698 RCV001485096 RCV001563734 RCV001563735 RCV001272834
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)	SNV Germline	Chr2:71556022	Conflicting classifications of pathogenicity	Qualitative or quantitative defects of dysferlin Condition: not provided 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	CA1706074	rs_182450244	4 SubmittersRCV000547561 RCV000734858 RCV001834789 RCV002506358
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	SNV Germline	Chr11:22218255	Pathogenic	Gnathodiaphyseal dysplasia 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	CA379924765	rs_1168346560	2 SubmittersRCV000545507 RCV000762829
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.5785-824C>T	SNV Germline	Chr2:71673373	Pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA658795804	rs_1285082850	5 SubmittersRCV000594297 RCV001731152 RCV001853996 RCV003117359
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)	SNV Germline	Chr2:71551712	Conflicting classifications of pathogenicity	Condition: not provided 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	6 SubmittersRCV000598052 RCV000648023 RCV001274446 RCV001526744
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	SNV Germline	Chr2:71570685	Pathogenic/Likely pathogenic	Condition: not provided 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	6 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 Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications	CA1706455	rs_754763074	4 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 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 Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B DYSF-related disorder	Criteria Provided Conflicting Classifications	CA1706362	rs_142404822	7 SubmittersRCV000726965 RCV001449654 RCV001081802 RCV001834885 RCV003927915
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)	SNV Germline	Chr2:71611540	Pathogenic/Likely pathogenic	Condition: not provided Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts	CA1706900	rs_776472879	3 SubmittersRCV000591033 RCV002491213 RCV003574784
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_001130987.2(DYSF):c.1618T>C (p.Tyr540His)	SNV Germline	Chr2:71551082	Conflicting classifications of pathogenicity	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset 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	Qualitative or quantitative defects of dysferlin 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	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	Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications	CA1707160	rs_571364996	3 SubmittersRCV000648011 RCV001563808 RCV001563809 RCV001563807
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)	SNV Germline	Chr2:71513784	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553521017	4 SubmittersRCV000672170 RCV001855574 RCV003459635
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)	SNV Germline	Chr2:71539207	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_139258703	3 SubmittersRCV000669615 RCV002531232 RCV004568528
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	SNV Germline	Chr2:71656166	Conflicting classifications of pathogenicity	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		rs_757820496	5 SubmittersRCV000696171 RCV001784229 RCV001810464 RCV003235334 RCV003459566
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)	SNV Germline	Chr2:71520871	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_766891289	6 SubmittersRCV000667055 RCV001058931 RCV001784244 RCV003465460
NM_001130987.2(DYSF):c.1277-2A>C	SNV Germline	Chr2:71528296	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_199543257	3 SubmittersRCV000667000 RCV003574794 RCV004568505
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	SNV Germline	Chr2:71611481	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_757917335	6 SubmittersRCV000671892 RCV001247195 RCV001531487 RCV004568544
NM_001130987.2(DYSF):c.5785-1G>C	SNV Germline	Chr2:71674196	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_751473506	4 SubmittersRCV000665467 RCV000823836 RCV003465443
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)	SNV Germline	Chr2:71516996	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553522751	3 SubmittersRCV000671651 RCV001244231 RCV003459630
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)	SNV Germline	Chr2:71520816	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_768546511	4 SubmittersRCV000666238 RCV001235470 RCV003465449
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 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		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 Qualitative or quantitative defects of dysferlin Condition: not provided not specified Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset	Criteria Provided Conflicting Classifications		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 Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		rs_1553412826	3 SubmittersRCV000673134 RCV003459640 RCV003574801
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 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		rs_1553422709	3 SubmittersRCV000666916 RCV003465457 RCV003767952
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	SNV Unknown	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	Criteria Provided Multiple Submitters No Conflicts		rs_750028300	3 SubmittersRCV000666237 RCV000763506 RCV003465448
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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		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 Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications		rs_753279446	4 SubmittersRCV000668653 RCV002507163 RCV002532078 RCV003459599
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 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_771257070	3 SubmittersRCV000670990 RCV002532106 RCV003465504
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)	SNV Germline	Chr2:71682669	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications		rs_746663568	4 SubmittersRCV000673203 RCV001035887 RCV003144473 RCV003465524
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)	SNV Germline	Chr2:71665254	Conflicting classifications of pathogenicity	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_957111625	4 SubmittersRCV000695255 RCV001274106 RCV002493198 RCV003163191
NM_001130987.2(DYSF):c.5884+1G>A	SNV Germline	Chr2:71674297	Pathogenic/Likely pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_756689063	4 SubmittersRCV000733869 RCV000809651 RCV002290000 RCV003465667
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)	SNV Germline	Chr2:71574330	Pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1558513494	3 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 Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications		rs_1024524968	3 SubmittersRCV000786071 RCV003144580 RCV003736901
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)	SNV Germline	Chr2:71658980	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications		rs_752946123	4 SubmittersRCV000778625 RCV002477780 RCV003230588
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)	SNV Germline	Chr2:71570631	Conflicting classifications of pathogenicity	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		rs_762486621	3 SubmittersRCV000799347 RCV001830718 RCV002487681
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)	SNV Germline	Chr2:71611344	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_758993965	6 SubmittersRCV000812166 RCV001089590 RCV001830775 RCV003461204
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)	SNV Germline	Chr2:71611558	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		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		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 Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_754889480	4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)	SNV Germline	Chr2:71570235	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2092340623	2 SubmittersRCV001054582 RCV003467777
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)	SNV Germline	Chr2:71612667	Pathogenic	Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_971134497	3 SubmittersRCV001043809 RCV001827266 RCV004570145
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)	SNV Germline	Chr2:71665298	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_762398889	3 SubmittersRCV001058448 RCV003152748 RCV003467792
NM_001130987.2(DYSF):c.1002+4A>G	SNV Germline	Chr2:71517043	Pathogenic/Likely pathogenic	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		rs_905322985	4 SubmittersRCV001072066 RCV001828532 RCV002480447 RCV003462626
NM_001130987.2(DYSF):c.4387+2T>C	SNV Germline	Chr2:71612808	Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_759939755	2 SubmittersRCV001040069 RCV003467720
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	SNV Germline	Chr2:71526331	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications		rs_778673716	4 SubmittersRCV001089584 RCV003339470 RCV001862659
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)	SNV Germline	Chr2:71567953	Pathogenic/Likely pathogenic	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 Multiple Submitters No Conflicts		rs_2092204417	3 SubmittersRCV001207233 RCV001263672 RCV001776143
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)	SNV Germline	Chr2:71555980	Pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_756258757	2 SubmittersRCV001237372 RCV003469441
NM_001130987.2(DYSF):c.3957+2T>G	SNV Germline	Chr2:71602807	Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1553377764	2 SubmittersRCV001246686 RCV003469475
NM_001130987.2(DYSF):c.147+1G>A	SNV Germline	Chr2:71480939	Pathogenic	Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		rs_2082833010	2 SubmittersRCV001249863 RCV003574861
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)	SNV Unknown	Chr2:71480909	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2090909751	1 SubmittersRCV001264244
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)	SNV Unknown	Chr2:71553831	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_763925689	1 SubmittersRCV001263962
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)	SNV Germline	Chr2:71570284	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_1462064763	1 SubmittersRCV001264129
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	SNV Germline	Chr2:71613360	Pathogenic/Likely pathogenic	Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_576130413	4 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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2094828804	1 SubmittersRCV001264131
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)	SNV Germline	Chr2:71660628	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_868779799	1 SubmittersRCV001264133
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	SNV Germline	Chr2:71664425	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 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_758992291	5 SubmittersRCV001264134 RCV003145501 RCV003469493 RCV003399036
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)	SNV Unknown	Chr2:71665226	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2094975881	1 SubmittersRCV001264256
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)	SNV Unknown	Chr2:71665295	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		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 Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter		rs_2095289978	1 SubmittersRCV001264261
NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter)	SNV Unknown	Chr11:22272870	Pathogenic	Miyoshi muscular dystrophy 3	Criteria Provided Single Submitter		rs_768835530	1 SubmittersRCV001330859
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)	SNV Germline	Chr2:71454022	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Condition: not provided Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2080944539	3 SubmittersRCV001388527 RCV001780363 RCV003469742
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)	SNV Germline	Chr2:71567990	Pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		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		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 Condition: not provided Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications		rs_570860273	4 SubmittersRCV001563902 RCV001563903 RCV001563944 RCV002488382 RCV003146217 RCV002573185
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)	SNV Germline	Chr2:71664422	Conflicting classifications of pathogenicity	Miyoshi muscular dystrophy 1 Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Qualitative or quantitative defects of dysferlin	Criteria Provided Conflicting Classifications		rs_753176482	2 SubmittersRCV001563907 RCV001563909 RCV001563908 RCV002569021
NM_001130987.2(DYSF):c.1985-1G>T	SNV Germline	Chr2:71553806	Pathogenic/Likely pathogenic	Condition: not provided Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2091139939	3 SubmittersRCV001783185 RCV001885159 RCV004571093
NM_001130987.2(DYSF):c.4528-5C>G	SNV Germline	Chr2:71643960	Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_774448845	2 SubmittersRCV001980078 RCV004571691
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)	SNV Germline	Chr2:71669143	Pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2152955939	2 SubmittersRCV001962334 RCV004571456
NM_003494.4(DYSF):c.1522+1G>A	SNV Germline	Chr2:71549392	Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1473130799	2 SubmittersRCV002047913 RCV003471257
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter)	SNV Germline	Chr2:71611308	Pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts		rs_147950418	2 SubmittersRCV001972811 RCV004571743
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)	SNV Germline	Chr2:71526275	Conflicting classifications of pathogenicity	Qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Conflicting Classifications		rs_375071568	2 SubmittersRCV001948729 RCV002492023
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			2 SubmittersRCV002306506 RCV003491083
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)	SNV Unknown	Chr2:71665280	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002306561
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)	SNV Germline	Chr2:71660571	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002309767 RCV003738180
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)	SNV Unknown	Chr2:71526241	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002310010
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)	SNV Unknown	Chr2:71665252	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			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 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002310059 RCV003574904
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)	SNV Unknown	Chr2:71513859	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002307876
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)	SNV Unknown	Chr2:71570280	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002307952
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)	SNV Unknown	Chr2:71568256	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002308036
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)	SNV Unknown	Chr2:71513904	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002308195
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)	SNV Unknown	Chr2:71553817	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002308262
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)	SNV Unknown	Chr2:71561774	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002309053
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)	SNV Unknown	Chr2:71564178	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002309060
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)	SNV Unknown	Chr2:71669720	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002306860
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)	SNV Unknown	Chr2:71665180	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV002307253
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)	SNV Unknown	Chr2:71644036	Likely pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			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			2 SubmittersRCV002468702
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)	SNV Germline	Chr2:71574303	Likely pathogenic	Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465948 RCV003085524
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)	SNV Germline	Chr2:71611483	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002664240 RCV003459773
NM_001130987.2(DYSF):c.3575-1G>C	SNV Germline	Chr2:71598563	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003105132 RCV004572849
NM_001130987.2(DYSF):c.6173+1G>A	SNV Germline	Chr2:71681111	Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003021279 RCV003459695
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			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			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			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			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			1 SubmittersRCV003460000
NM_001130987.2(DYSF):c.5642+2T>A	SNV Unknown	Chr2:71669209	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467869
NM_001130987.2(DYSF):c.1807-2A>G	SNV Unknown	Chr2:71553009	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467870
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)	SNV Unknown	Chr2:71526331	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467872
NM_001130987.2(DYSF):c.1002+1G>A	SNV Unknown	Chr2:71517040	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460003
NM_001130987.2(DYSF):c.5458-2A>G	SNV Unknown	Chr2:71668752	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467873
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)	SNV Germline	Chr2:71664413	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003475592 RCV003575101
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)	SNV Unknown	Chr2:71598661	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460004
NM_001130987.2(DYSF):c.1806+1G>T	SNV Unknown	Chr2:71551721	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467876
NM_001130987.2(DYSF):c.760-2A>G	SNV Unknown	Chr2:71515621	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467877
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)	SNV Unknown	Chr2:71568080	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460007
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)	SNV Unknown	Chr2:71520822	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467883
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)	SNV Unknown	Chr2:71679149	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460011
NM_001130987.2(DYSF):c.1984+2T>A	SNV Unknown	Chr2:71553190	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003467886
NM_001130987.2(DYSF):c.148-2A>G	SNV Unknown	Chr2:71481877	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460012
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)	SNV Germline	Chr2:71520810	Pathogenic	Miyoshi muscular dystrophy 1 Qualitative or quantitative defects of dysferlin	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460013 RCV003575102
NM_001130987.2(DYSF):c.5642+3A>G	SNV Unknown	Chr2:71669210	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467887
NM_001130987.2(DYSF):c.2110-1G>A	SNV Unknown	Chr2:71555964	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467889
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)	SNV Unknown	Chr2:71679162	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467890
NM_001130987.2(DYSF):c.2217-1G>A	SNV Unknown	Chr2:71561751	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003467892
NM_003494.4(DYSF):c.88+1G>A	SNV Unknown	Chr2:71454087	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV003460017
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)	SNV Germline	Chr2:71520896	Pathogenic/Likely pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003575140 RCV004574058
NM_001130987.2(DYSF):c.1692+1G>C	SNV Germline	Chr2:71551157	Pathogenic	Qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003573542 RCV004574095
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			2 SubmittersRCV004576129 RCV004576128
NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)	SNV Unknown	Chr2:71679153	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575857
NM_001130987.2(DYSF):c.5175-1G>A	SNV Unknown	Chr2:71665161	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575860
NM_001130987.2(DYSF):c.2864+1G>C	SNV Unknown	Chr2:71568339	Pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575862
NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)	SNV Unknown	Chr2:71553106	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575863
NM_001130987.2(DYSF):c.6321+1G>C	SNV Unknown	Chr2:71682678	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575864
NM_001130987.2(DYSF):c.3228+2T>C	SNV Unknown	Chr2:71570743	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575865
NM_001130987.2(DYSF):c.1494-1G>C	SNV Unknown	Chr2:71539156	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV004575866
NM_001130987.2(DYSF):c.951+2T>C	SNV Unknown	Chr2:71516244	Likely pathogenic	Miyoshi muscular dystrophy 1	Criteria Provided Single Submitter			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			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			1 SubmittersRCV004575870

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224408

rs_137854524

8 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224418

rs_137854523

26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730

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

SNV
Germline

Chr11:22274605

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

CA130516

rs_137854529

20 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162

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

SNV
Germline

Chr2:71553071

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA253901

rs_121908953

3 SubmittersRCV000007047 RCV000301362 RCV003574697

NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)

SNV
Germline

Chr2:71602794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA179991

rs_121908954

15 SubmittersRCV000007049 RCV000153183 RCV000509353 RCV000658868 RCV000681611 RCV001563901 RCV004547461

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

SNV
Germline

Chr2:71682597

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222203

rs_121908955

13 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961

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

SNV
Germline

Chr2:71564074

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222139

rs_121908956

3 SubmittersRCV000007055 RCV000007056 RCV000807968 RCV000790785

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

SNV
Germline

Chr2:71664443

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA253906

rs_745891180

5 SubmittersRCV000007057 RCV001781198 RCV001851715 RCV002298436 RCV003466824

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

SNV
Germline

Chr2:71570300

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222147

rs_28937581

9 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846

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

SNV
Germline

Chr2:71570704

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222152

rs_121908958

9 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764

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
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA118412

rs_121908959

12 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177

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

SNV
Germline

Chr2:71551073

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
Condition: not provided
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA253913

rs_121908962

5 SubmittersRCV000007066 RCV000342783 RCV001048974

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA253916

rs_121908963

7 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431

NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)

SNV
Germline

Chr2:71517028

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253918

rs_121908963

4 SubmittersRCV000007069 RCV000594920 RCV003159090

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

SNV
Germline

Chr2:71668842

Pathogenic/Likely pathogenic

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

CA253922

rs_786205084

6 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993

NM_213599.3(ANO5):c.1407+5G>A

SNV
Germline

Chr11:22257759

Pathogenic

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

Criteria Provided
Single Submitter

CA343748

rs_281865464

3 SubmittersRCV000032968 RCV000032553 RCV001091512

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

SNV
Germline

Chr2:71520905

Pathogenic/Likely pathogenic

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

CA222120

rs_398123763

7 SubmittersRCV000174082 RCV000711544 RCV000700616 RCV000763501 RCV003466976

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

SNV
Germline

Chr2:71528403

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA222122

rs_398123765

5 SubmittersRCV000080229 RCV000174526 RCV003466978 RCV003574709

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222125

rs_202044973

8 SubmittersRCV000080232 RCV000174882 RCV000698361 RCV003466979

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222130

rs_398123770

8 SubmittersRCV000175175 RCV000711548 RCV002477229 RCV002514411 RCV003460748

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA222133

rs_377735262

9 SubmittersRCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502

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

SNV
Germline

Chr2:71561900

Pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222137

rs_398123773

5 SubmittersRCV000176393 RCV001089587 RCV001390522 RCV003466982

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

SNV
Germline

Chr2:71568083

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222141

rs_140108514

14 SubmittersRCV000080255 RCV000233433 RCV000176550 RCV000697172 RCV000763504 RCV003415848

NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)

SNV
Germline

Chr2:71598577

Conflicting classifications of pathogenicity

not specified
Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA152665

rs_79899601

11 SubmittersRCV000116928 RCV000307614 RCV000343725 RCV000711556 RCV001082923 RCV001449951 RCV001276445

NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)

SNV
Germline

Chr2:71511847

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Muscular dystrophy
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA147747

rs_34997054

18 SubmittersRCV000080277 RCV000210633 RCV000499917 RCV000527027 RCV000675166 RCV001449935 RCV001573049 RCV003891555 RCV003993796

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222164

rs_398123787

10 SubmittersRCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797

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

SNV
Germline

Chr2:71643993

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA222170

rs_398123788

4 SubmittersRCV000080290 RCV001854416 RCV003460752

NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)

SNV
Germline

Chr2:71644058

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA147760

rs_7573406

10 SubmittersRCV000080291 RCV000281446 RCV000378288 RCV000542076 RCV001271543 RCV001449941

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222174

rs_398123789

9 SubmittersRCV000178524 RCV000790739 RCV000794872 RCV003466985

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

SNV
Germline

Chr2:71659033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222176

rs_141704244

8 SubmittersRCV000080297 RCV000548178 RCV001271548 RCV002222381 RCV003466986 RCV004549503

NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)

SNV
Germline

Chr2:71513767

Conflicting classifications of pathogenicity

not specified
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147766

rs_34999029

14 SubmittersRCV000080300 RCV000531528 RCV001273964 RCV001449921 RCV001699034

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

SNV
Germline

Chr2:71669191

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222190

rs_398123794

7 SubmittersRCV000178688 RCV000790680 RCV001384247 RCV001814049 RCV003466987

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

SNV
Germline

Chr2:71513868

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222201

rs_373585652

8 SubmittersRCV000179424 RCV000693273 RCV000711569 RCV003114244 RCV003474680

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

SNV
Germline

Chr2:71682612

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA222205

rs_150834671

8 SubmittersRCV000308010 RCV000407709 RCV000543402 RCV000725370 RCV001276874 RCV001449586

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

SNV
Germline

Chr2:71513922

Pathogenic

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

CA222207

rs_398123800

5 SubmittersRCV000179423 RCV000790678 RCV001386483 RCV003474681 RCV002498413

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

SNV
Germline

Chr2:71515714

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222210

rs_398123802

8 SubmittersRCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990

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

SNV
Germline

Chr2:71516998

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA222222

rs_398123808

3 SubmittersRCV000080334 RCV003236666 RCV003460754

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

SNV
Germline

Chr2:71520209

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
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
Multiple Submitters
No Conflicts

CA222224

rs_201869739

6 SubmittersRCV000173782 RCV000262780 RCV000801493 RCV001810422 RCV003466991

NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)

SNV
Germline

Chr11:22262231

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA232785

rs_137854526

12 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119

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

SNV
Germline

Chr2:71667441

Pathogenic

Condition: not provided
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
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
DYSF-related disorder
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA233937

rs_727503911

10 SubmittersRCV000323235 RCV000809801 RCV000984259 RCV002492572 RCV003917498 RCV003467211

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

SNV
Germline

Chr2:71568318

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA233931

rs_727503910

6 SubmittersRCV000153178 RCV000668306 RCV003462058 RCV003329115

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

SNV
Germline

Chr2:71669208

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA233946

rs_727503915

4 SubmittersRCV000407918 RCV000648019 RCV002469027 RCV003467212

NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)

SNV
Germline

Chr2:71535079

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240279

rs_794727119

3 SubmittersRCV000174707 RCV000674572 RCV003468855

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

SNV
Germline

Chr11:22263044

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA201366

rs_142027093

13 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118

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

SNV
Germline

Chr2:71553110

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA241938

rs_201049092

7 SubmittersRCV000176067 RCV000675177 RCV001852168 RCV003235095 RCV003468857

NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)

SNV
Germline

Chr2:71553842

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA242074

rs_139754493

9 SubmittersRCV000292466 RCV000328757 RCV000487642 RCV001085988 RCV001563949 RCV001563948 RCV001563950 RCV003416078

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

SNV
Germline

Chr2:71561870

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
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

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
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
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA242772

rs_144636654

13 SubmittersRCV000367959 RCV000403556 RCV000725533 RCV001079396 RCV001272822 RCV001449649 RCV001810433 RCV004552986

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
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
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275204

rs_370874727

4 SubmittersRCV000277199 RCV000701150 RCV000984258 RCV003468863

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

SNV
Germline

Chr2:71600759

Conflicting classifications of pathogenicity

not specified
Condition: not provided
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.4021C>G (p.Gln1341Glu)

SNV
Germline

Chr2:71611308

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA244881

rs_147950418

9 SubmittersRCV000658869 RCV000691904 RCV001329091

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275254

rs_794727636

6 SubmittersRCV000178195 RCV000724670 RCV001040341 RCV003462284

NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr11:22218279

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA202865

rs_201725369

16 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002

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

SNV
Germline

Chr2:71643988

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
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

Criteria Provided
Multiple Submitters
No Conflicts

CA275268

rs_766016391

9 SubmittersRCV000178461 RCV000527540 RCV000724391 RCV002485170 RCV003468866

NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)

SNV
Germline

Chr2:71660585

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA275275

rs_146384562

14 SubmittersRCV000245703 RCV000711564 RCV001274849 RCV001449590 RCV001085998 RCV002466461 RCV003891739

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275391

rs_794727851

3 SubmittersRCV000179815 RCV000724796 RCV004567382

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

SNV
Germline

Chr2:71515666

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA247174

rs_150917600

7 SubmittersRCV000706741 RCV000656845 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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275400

rs_141497053

6 SubmittersRCV000179859 RCV000984257 RCV002265663 RCV001852238 RCV003468872

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

SNV
Germline

Chr2:71665182

Pathogenic/Likely pathogenic

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
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

CA277606

rs_746873768

9 SubmittersRCV000201076 RCV000255415 RCV000531181 RCV000763503 RCV003468914

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
Qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA277609

rs_369607332

11 SubmittersRCV000201098 RCV000255805 RCV000526163 RCV001814110 RCV003462352

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

SNV
Germline

Chr2:71665181

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA279083

rs_863225021

8 SubmittersRCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915

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

SNV
Germline

Chr2:71570680

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1706448

rs_150877497

14 SubmittersRCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174

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
Abnormality of the musculature
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10588346

rs_746315830

7 SubmittersRCV000254734 RCV001004980 RCV001089583 RCV001814129 RCV001855002

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

SNV
Germline

Chr2:71526295

Pathogenic/Likely pathogenic

Condition: not provided
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
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1705654

rs_758180890

8 SubmittersRCV000255632 RCV000817143 RCV000763502 RCV003463719 RCV003993912 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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588347

rs_886039573

7 SubmittersRCV000254712 RCV000597734 RCV001381504 RCV003463720

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

SNV
Germline

Chr2:71611483

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of dysferlin
not specified
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706889

rs_199870606

6 SubmittersRCV000408314 RCV000802767 RCV001804995 RCV003469216

NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)

SNV
Germline

Chr2:71553135

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705983

rs_141867897

8 SubmittersRCV000274204 RCV000710126 RCV001329088 RCV001084090 RCV003920032

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

SNV
Germline

Chr2:71590246

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603799

rs_886042091

6 SubmittersRCV000518638 RCV001247365 RCV001828174 RCV003469217

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

SNV
Germline

Chr2:71661900

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603819

rs_886042110

4 SubmittersRCV000353624 RCV000591407 RCV001855080 RCV003469219

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

SNV
Germline

Chr2:71682536

Conflicting classifications of pathogenicity

not specified
Condition: not provided
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

7 SubmittersRCV000315999 RCV000540445 RCV001081387 RCV001449592 RCV001833308

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

SNV
Germline

Chr2:71535087

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
not specified

Criteria Provided
Conflicting Classifications

CA1705737

rs_141818764

11 SubmittersRCV000300999 RCV000358093 RCV000711546 RCV001084088 RCV001276725 RCV001449924 RCV001820812

NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr11:22262138

Conflicting classifications of pathogenicity

Condition: not provided
ANO5-related disorder
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

Criteria Provided
Conflicting Classifications

CA5923316

rs_139618850

6 SubmittersRCV000322343 RCV000778318 RCV000758149 RCV000807697 RCV003323487

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

SNV
Germline

Chr2:71526334

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604166

rs_886042389

5 SubmittersRCV000292426 RCV000725084 RCV001070518 RCV003469225 RCV003317179

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706450

rs_760443264

7 SubmittersRCV000351237 RCV000665378 RCV001297834 RCV003469226

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
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

8 SubmittersRCV000266653 RCV000725114 RCV000757894 RCV001141002 RCV001810440 RCV003463743

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

SNV
Germline

Chr2:71561945

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604289

rs_151317754

4 SubmittersRCV000261362 RCV000349131 RCV001379694 RCV003463745

NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)

SNV
Germline

Chr2:71669126

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604436

rs_886042584

3 SubmittersRCV000595427 RCV000725239 RCV003463747

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

SNV
Germline

Chr2:71551676

Pathogenic/Likely pathogenic

Condition: not provided
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

CA10604502

rs_886042633

3 SubmittersRCV000259897 RCV001859579 RCV001727667

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

SNV
Germline

Chr2:71644013

Pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10604504

rs_886042635

3 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
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1707510

rs_753861836

10 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
Qualitative or quantitative defects of dysferlin
Inborn genetic diseases
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

CA1705480

rs_140002194

10 SubmittersRCV000488274 RCV001142308 RCV002518899 RCV002494838 RCV001828197

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

SNV
Germline

Chr2:71564125

Conflicting classifications of pathogenicity

Miyoshi myopathy
Condition: not provided
Limb-girdle muscular dystrophy, recessive
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

CA1706183

rs_35297901

8 SubmittersRCV000271598 RCV000356959 RCV000366269 RCV000695150 RCV001271793 RCV002487214

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

SNV
Germline

Chr2:71570626

Conflicting classifications of pathogenicity

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

CA1706432

rs_764931697

7 SubmittersRCV000313635 RCV000666376 RCV000701610 RCV002494839

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

SNV
Germline

Chr2:71569884

Pathogenic/Likely pathogenic

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
Qualitative or quantitative defects of dysferlin
DYSF-related disorder
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1706331

rs_202218890

12 SubmittersRCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231

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

SNV
Germline

Chr2:71668753

Pathogenic

Condition: not provided
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/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
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
Multiple Submitters
No Conflicts

CA1705479

rs_149827237

11 SubmittersRCV000595594 RCV001254624 RCV001379021 RCV002502122 RCV003469232

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

SNV
Germline

Chr2:71570336

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604913

rs_886042951

5 SubmittersRCV000280615 RCV001037309 RCV001828208 RCV003469233

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

SNV
Germline

Chr2:71598667

Conflicting classifications of pathogenicity

not specified
Condition: not provided
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.3125C>T (p.Pro1042Leu)

SNV
Germline

Chr2:71570638

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5923597

rs_142073798

9 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129

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
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923512

rs_144048656

9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259772 RCV002259770

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

SNV
Germline

Chr2:71612772

Pathogenic

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

4 SubmittersRCV000556431 RCV000597200 RCV002494847 RCV003463761

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707338

rs_145272777

10 SubmittersRCV000374736 RCV000664874 RCV000778917 RCV001329706 RCV001563739 RCV003940011

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

SNV
Germline

Chr2:71539161

Conflicting classifications of pathogenicity

Condition: not provided
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

CA1705795

rs_185119682

5 SubmittersRCV000335981 RCV000535143 RCV001274443 RCV002480026

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

SNV
Germline

Chr2:71667477

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1707356

rs_746243052

11 SubmittersRCV000294536 RCV000725796 RCV000817667 RCV003114448 RCV003469237

NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr11:22262162

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5923318

rs_375014127

9 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585

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

SNV
Germline

Chr2:71556003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1706066

rs_201239189

4 SubmittersRCV000392895 RCV001088299 RCV001271786 RCV001563802 RCV001563803

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Primary dilated cardiomyopathy
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707599

rs_115407852

13 SubmittersRCV000356385 RCV000487973 RCV000675073 RCV001085395 RCV001449928 RCV003448906 RCV004549599

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

SNV
Germline

Chr2:71520904

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705617

rs_199955501

9 SubmittersRCV000264345 RCV000356789 RCV000402278 RCV000665200 RCV000726161 RCV001080526 RCV001449952 RCV003897632

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

SNV
Germline

Chr2:71553119

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10606091

rs_886043900

6 SubmittersRCV000597376 RCV000726165 RCV001214514 RCV003469244

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

SNV
Germline

Chr2:71664407

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707253

rs_141137410

10 SubmittersRCV000310014 RCV000362344 RCV000388999 RCV000493108 RCV000986770 RCV001079670 RCV001526431

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

SNV
Germline

Chr2:71669608

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10606170

rs_886043966

4 SubmittersRCV000371436 RCV003574728 RCV003469245

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

SNV
Germline

Chr2:71568343

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA10606385

rs_886044131

4 SubmittersRCV000342909 RCV000647998 RCV000668205 RCV004567837

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

SNV
Germline

Chr2:71526351

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1705673

rs_766433603

7 SubmittersRCV000675165 RCV000726343 RCV001048102 RCV003463775

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

SNV
Germline

Chr2:71660630

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
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707202

rs_144383140

6 SubmittersRCV000348647 RCV002494891 RCV001833403 RCV001240482

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

SNV
Germline

Chr2:71515752

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606682

rs_886044377

5 SubmittersRCV000597496 RCV000726446 RCV003469247 RCV002518120

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

SNV
Germline

Chr2:71549386

Pathogenic/Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606720

rs_886044410

3 SubmittersRCV000404144 RCV003463777 RCV002518128

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

SNV
Germline

Chr2:71613408

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606721

rs_886044411

5 SubmittersRCV000306643 RCV000726457 RCV003463778 RCV003736690

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
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
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

CA1706296

rs_150717638

6 SubmittersRCV000380360 RCV001246606 RCV001833413 RCV002480056

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

SNV
Germline

Chr2:71528308

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1705696

rs_769254776

3 SubmittersRCV000347517 RCV000385756 RCV001139798 RCV001526418

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16604254

rs_1057521141

5 SubmittersRCV000424011 RCV000671182 RCV001861509 RCV003470383

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
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
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
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/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1706298

rs_199954546

7 SubmittersRCV000512137 RCV001217776 RCV001263253 RCV002286745

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
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

CA1706667

rs_150942486

8 SubmittersRCV000727399 RCV000765698 RCV001485096 RCV001563734 RCV001563735 RCV001272834

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

SNV
Germline

Chr2:71556022

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of dysferlin
Condition: not provided
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

CA1706074

rs_182450244

4 SubmittersRCV000547561 RCV000734858 RCV001834789 RCV002506358

NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr11:22218255

Pathogenic

Gnathodiaphyseal dysplasia
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

CA379924765

rs_1168346560

2 SubmittersRCV000545507 RCV000762829

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.5785-824C>T

SNV
Germline

Chr2:71673373

Pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA658795804

rs_1285082850

5 SubmittersRCV000594297 RCV001731152 RCV001853996 RCV003117359

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

SNV
Germline

Chr2:71551712

Conflicting classifications of pathogenicity

Condition: not provided
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

6 SubmittersRCV000598052 RCV000648023 RCV001274446 RCV001526744

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

SNV
Germline

Chr2:71570685

Pathogenic/Likely pathogenic

Condition: not provided
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

6 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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706455

rs_754763074

4 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
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
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706362

rs_142404822

7 SubmittersRCV000726965 RCV001449654 RCV001081802 RCV001834885 RCV003927915

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

SNV
Germline

Chr2:71611540

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1706900

rs_776472879

3 SubmittersRCV000591033 RCV002491213 RCV003574784

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_001130987.2(DYSF):c.1618T>C (p.Tyr540His)

SNV
Germline

Chr2:71551082

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
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

Qualitative or quantitative defects of dysferlin
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

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

Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707160

rs_571364996

3 SubmittersRCV000648011 RCV001563808 RCV001563809 RCV001563807

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

SNV
Germline

Chr2:71513784

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553521017

4 SubmittersRCV000672170 RCV001855574 RCV003459635

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

SNV
Germline

Chr2:71539207

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_139258703

3 SubmittersRCV000669615 RCV002531232 RCV004568528

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

SNV
Germline

Chr2:71656166

Conflicting classifications of pathogenicity

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

rs_757820496

5 SubmittersRCV000696171 RCV001784229 RCV001810464 RCV003235334 RCV003459566

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

SNV
Germline

Chr2:71520871

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_766891289

6 SubmittersRCV000667055 RCV001058931 RCV001784244 RCV003465460

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

SNV
Germline

Chr2:71528296

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_199543257

3 SubmittersRCV000667000 RCV003574794 RCV004568505

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

SNV
Germline

Chr2:71611481

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_757917335

6 SubmittersRCV000671892 RCV001247195 RCV001531487 RCV004568544

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

SNV
Germline

Chr2:71674196

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_751473506

4 SubmittersRCV000665467 RCV000823836 RCV003465443

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

SNV
Germline

Chr2:71516996

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553522751

3 SubmittersRCV000671651 RCV001244231 RCV003459630

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

SNV
Germline

Chr2:71520816

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_768546511

4 SubmittersRCV000666238 RCV001235470 RCV003465449

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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Conflicting Classifications

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
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553412826

3 SubmittersRCV000673134 RCV003459640 RCV003574801

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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553422709

3 SubmittersRCV000666916 RCV003465457 RCV003767952

NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)

SNV
Unknown

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_750028300

3 SubmittersRCV000666237 RCV000763506 RCV003465448

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

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
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

rs_753279446

4 SubmittersRCV000668653 RCV002507163 RCV002532078 RCV003459599

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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_771257070

3 SubmittersRCV000670990 RCV002532106 RCV003465504

NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

SNV
Germline

Chr2:71682669

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

rs_746663568

4 SubmittersRCV000673203 RCV001035887 RCV003144473 RCV003465524

NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)

SNV
Germline

Chr2:71665254

Conflicting classifications of pathogenicity

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_957111625

4 SubmittersRCV000695255 RCV001274106 RCV002493198 RCV003163191

NM_001130987.2(DYSF):c.5884+1G>A

SNV
Germline

Chr2:71674297

Pathogenic/Likely pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_756689063

4 SubmittersRCV000733869 RCV000809651 RCV002290000 RCV003465667

NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)

SNV
Germline

Chr2:71574330

Pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558513494

3 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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

rs_1024524968

3 SubmittersRCV000786071 RCV003144580 RCV003736901

NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)

SNV
Germline

Chr2:71658980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752946123

4 SubmittersRCV000778625 RCV002477780 RCV003230588

NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)

SNV
Germline

Chr2:71570631

Conflicting classifications of pathogenicity

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

rs_762486621

3 SubmittersRCV000799347 RCV001830718 RCV002487681

NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)

SNV
Germline

Chr2:71611344

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_758993965

6 SubmittersRCV000812166 RCV001089590 RCV001830775 RCV003461204

NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)

SNV
Germline

Chr2:71611558

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754889480

4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437

NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)

SNV
Germline

Chr2:71570235

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2092340623

2 SubmittersRCV001054582 RCV003467777

NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)

SNV
Germline

Chr2:71612667

Pathogenic

Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_971134497

3 SubmittersRCV001043809 RCV001827266 RCV004570145

NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)

SNV
Germline

Chr2:71665298

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_762398889

3 SubmittersRCV001058448 RCV003152748 RCV003467792

NM_001130987.2(DYSF):c.1002+4A>G

SNV
Germline

Chr2:71517043

Pathogenic/Likely pathogenic

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

rs_905322985

4 SubmittersRCV001072066 RCV001828532 RCV002480447 RCV003462626

NM_001130987.2(DYSF):c.4387+2T>C

SNV
Germline

Chr2:71612808

Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_759939755

2 SubmittersRCV001040069 RCV003467720

NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)

SNV
Germline

Chr2:71526331

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

rs_778673716

4 SubmittersRCV001089584 RCV003339470 RCV001862659

NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr2:71567953

Pathogenic/Likely pathogenic

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
Multiple Submitters
No Conflicts

rs_2092204417

3 SubmittersRCV001207233 RCV001263672 RCV001776143

NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)

SNV
Germline

Chr2:71555980

Pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_756258757

2 SubmittersRCV001237372 RCV003469441

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

SNV
Germline

Chr2:71602807

Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553377764

2 SubmittersRCV001246686 RCV003469475

NM_001130987.2(DYSF):c.147+1G>A

SNV
Germline

Chr2:71480939

Pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082833010

2 SubmittersRCV001249863 RCV003574861

NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)

SNV
Unknown

Chr2:71480909

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2090909751

1 SubmittersRCV001264244

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

SNV
Unknown

Chr2:71553831

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_763925689

1 SubmittersRCV001263962

NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)

SNV
Germline

Chr2:71570284

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_1462064763

1 SubmittersRCV001264129

NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)

SNV
Germline

Chr2:71613360

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_576130413

4 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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2094828804

1 SubmittersRCV001264131

NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)

SNV
Germline

Chr2:71660628

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_868779799

1 SubmittersRCV001264133

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

SNV
Germline

Chr2:71664425

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
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_758992291

5 SubmittersRCV001264134 RCV003145501 RCV003469493 RCV003399036

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

SNV
Unknown

Chr2:71665226

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2094975881

1 SubmittersRCV001264256

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

SNV
Unknown

Chr2:71665295

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

rs_2095289978

1 SubmittersRCV001264261

NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter)

SNV
Unknown

Chr11:22272870

Pathogenic

Miyoshi muscular dystrophy 3

Criteria Provided
Single Submitter

rs_768835530

1 SubmittersRCV001330859

NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)

SNV
Germline

Chr2:71454022

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080944539

3 SubmittersRCV001388527 RCV001780363 RCV003469742

NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr2:71567990

Pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

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

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
Condition: not provided
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

rs_570860273

4 SubmittersRCV001563902 RCV001563903 RCV001563944 RCV002488382 RCV003146217 RCV002573185

NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)

SNV
Germline

Chr2:71664422

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

rs_753176482

2 SubmittersRCV001563907 RCV001563909 RCV001563908 RCV002569021

NM_001130987.2(DYSF):c.1985-1G>T

SNV
Germline

Chr2:71553806

Pathogenic/Likely pathogenic

Condition: not provided
Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2091139939

3 SubmittersRCV001783185 RCV001885159 RCV004571093

NM_001130987.2(DYSF):c.4528-5C>G

SNV
Germline

Chr2:71643960

Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_774448845

2 SubmittersRCV001980078 RCV004571691

NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)

SNV
Germline

Chr2:71669143

Pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2152955939

2 SubmittersRCV001962334 RCV004571456

NM_003494.4(DYSF):c.1522+1G>A

SNV
Germline

Chr2:71549392

Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1473130799

2 SubmittersRCV002047913 RCV003471257

NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter)

SNV
Germline

Chr2:71611308

Pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_147950418

2 SubmittersRCV001972811 RCV004571743

NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr2:71526275

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

rs_375071568

2 SubmittersRCV001948729 RCV002492023

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

2 SubmittersRCV002306506 RCV003491083

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

SNV
Unknown

Chr2:71665280

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002306561

NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)

SNV
Germline

Chr2:71660571

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309767 RCV003738180

NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)

SNV
Unknown

Chr2:71526241

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002310010

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

SNV
Unknown

Chr2:71665252

Likely pathogenic

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

Criteria Provided
Single Submitter

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
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002310059 RCV003574904

NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)

SNV
Unknown

Chr2:71513859

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002307876

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

SNV
Unknown

Chr2:71570280

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002307952

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

SNV
Unknown

Chr2:71568256

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002308036

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

SNV
Unknown

Chr2:71513904

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002308195

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

SNV
Unknown

Chr2:71553817

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002308262

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

SNV
Unknown

Chr2:71561774

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002309053

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

SNV
Unknown

Chr2:71564178

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002309060

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

SNV
Unknown

Chr2:71669720

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002306860

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

SNV
Unknown

Chr2:71665180

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002307253

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

SNV
Unknown

Chr2:71644036

Likely pathogenic

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

Criteria Provided
Single Submitter

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

2 SubmittersRCV002468702

NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)

SNV
Germline

Chr2:71574303

Likely pathogenic

Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465948 RCV003085524

NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)

SNV
Germline

Chr2:71611483

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664240 RCV003459773

NM_001130987.2(DYSF):c.3575-1G>C

SNV
Germline

Chr2:71598563

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003105132 RCV004572849

NM_001130987.2(DYSF):c.6173+1G>A

SNV
Germline

Chr2:71681111

Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003021279 RCV003459695

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

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

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

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

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

1 SubmittersRCV003460000

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

SNV
Unknown

Chr2:71669209

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467869

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

SNV
Unknown

Chr2:71553009

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467870

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

SNV
Unknown

Chr2:71526331

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467872

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

SNV
Unknown

Chr2:71517040

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460003

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

SNV
Unknown

Chr2:71668752

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467873

NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)

SNV
Germline

Chr2:71664413

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475592 RCV003575101

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

SNV
Unknown

Chr2:71598661

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460004

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

SNV
Unknown

Chr2:71551721

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467876

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

SNV
Unknown

Chr2:71515621

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467877

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

SNV
Unknown

Chr2:71568080

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460007

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

SNV
Unknown

Chr2:71520822

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467883

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

SNV
Unknown

Chr2:71679149

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460011

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

SNV
Unknown

Chr2:71553190

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003467886

NM_001130987.2(DYSF):c.148-2A>G

SNV
Unknown

Chr2:71481877

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460012

NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)

SNV
Germline

Chr2:71520810

Pathogenic

Miyoshi muscular dystrophy 1
Qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460013 RCV003575102

NM_001130987.2(DYSF):c.5642+3A>G

SNV
Unknown

Chr2:71669210

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467887

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

SNV
Unknown

Chr2:71555964

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467889

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

SNV
Unknown

Chr2:71679162

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467890

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

SNV
Unknown

Chr2:71561751

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003467892

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

SNV
Unknown

Chr2:71454087

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV003460017

NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)

SNV
Germline

Chr2:71520896

Pathogenic/Likely pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003575140 RCV004574058

NM_001130987.2(DYSF):c.1692+1G>C

SNV
Germline

Chr2:71551157

Pathogenic

Qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003573542 RCV004574095

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

2 SubmittersRCV004576129 RCV004576128

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

SNV
Unknown

Chr2:71679153

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575857

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

SNV
Unknown

Chr2:71665161

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575860

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

SNV
Unknown

Chr2:71568339

Pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575862

NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)

SNV
Unknown

Chr2:71553106

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575863

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

SNV
Unknown

Chr2:71682678

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575864

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

SNV
Unknown

Chr2:71570743

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575865

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

SNV
Unknown

Chr2:71539156

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV004575866

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

SNV
Unknown

Chr2:71516244

Likely pathogenic

Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004575870