From: A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
Index ID | Gene | Mutation | Novel | Effect | Evidence of pathogenicity |
---|---|---|---|---|---|
10R-00963 10R-00534 | CAPN3 | NM_000070:c.801+1G>A | No | Pathogenic | PVS1, PP1-S, PM2, PM3, PP1-M, PP1, PP3, PP4 |
10R-00309 10R-00658 11R-02841 11R-03100 | FKRP | NM_001039885:c.941C>T;p.T314M | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP3, PP2, PP4 |
11R-00685 | ALG2 | NM_033087.3:indel:c.214_224delGGGGACTGGCT delinsAGTCCCCG;p.72_75delGDWLinsSPR | No | Pathogenic | PVS1, PP1-S, PM2, PM3, PM4, PP1, PP3, PP4 |
10R-00500 10R-00405 10R-00538 14R-02300 11R-01506 12R-01190 | DYSF | NM_003494:c.164_165insA;p.I57Hfs*8 | No | Pathogenic | PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 |
11R-00680 10R-00857 | SGCA | NM_001135697:c.608_609insCG;p.S203fs | Yes | Pathogenic | PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 |
794310 502098 11R-00463 | SGCA | NM_001135697:c.101G>A;p.R34H | No | Pathogenic | PM2, PP1-S, PM3, PP1-M, PP1, PP2, PP3, PP4 |
10R-00739 | CAPN3 | NM_000070:cA2329A>G;p.I777V | Yes | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
10R-00751 | SEPN1 | NM_206926:c.1270G>A;p.D424N | Yes | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
10R-00779 | CAPN3 | NM_000070:c.146G>A;p.R49H | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
10R-00926 | SGCB | NM_000232:c.355A>T;p.I119F | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
10R-00973 | FKTN | NM_006731:c.314G>T;p.C105F | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-00018 13R-01080 | CAPN3 | NM_000070:c.1699G>A;p.G567R | Yes | Likely pathogenic | PM2, PM3, PP2, PP3, PP4 |
11R-00031 | GNE | NM_001190384:c.1805T>C;p.M602T | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-00230 12R-01188 | FKRP | NM_001039885:c.941C>T;p.T314M | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-00232 | WNK1 | NM_213655:c.2152C>T:p.R718C | Yes | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-00308 12R-01189 | DYSF | NM_001130976:c.1433delC;p.T478fs | Yes | Pathogenic | PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP4, PP3 |
11R-00337 | FKRP | NM_001039885:c.1012G>T;p.V338L | Yes | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-00745 | DYSF | NM_001130976:c.A5201T;p.E1734V | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
11R-02618 | CAPN3 | NM_000070:c.310G>T;p.E104X | Yes | Pathogenic | PVS1, PM2, PM3, PM4, PP3, PP4 |
12R-00001 | ANO5 | NM_001142649, c.169C>T;p.R57W | No | Pathogenic | PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 |
12R-00316 | CAPN3 | NM_000070:c.2381-1G>A | Yes | Pathogenic | PVS1, PM2, PM3, PM4, PP1-M, PP1-S, PP1, PP3, PP4 |
13R-01177 | DYSF | NM_001130976:c.89-1G>A | Yes | Pathogenic | PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 |
14R-00183 | DNAJB6 | NM_005494:c.C287T;p.P96L | Yes | Pathogenic | PP1-S, PM2, PP1-M, PP1, PP2, PP3, PP4 |