single nucleotide variant | NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38662410 | 38662410 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001079802.2(FKTN):c.528dup (p.His177fs) | FKTN | Pathogenic/Likely pathogenic | 9 | 108366651 | 108366652 | C | CT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004006.3(DMD):c.1705-2A>G | DMD | Pathogenic/Likely pathogenic | X | 32591756 | 32591756 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38616881 | 38616881 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38608056 | 38608056 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) | DMD | Pathogenic/Likely pathogenic | X | 32632551 | 32632551 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter) | DMD | Pathogenic/Likely pathogenic | X | 31366742 | 31366742 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001943.5(DSG2):c.3G>A (p.Met1Ile) | DSG2 | Pathogenic/Likely pathogenic | 18 | 29078217 | 29078217 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_032578.4(MYPN):c.3127del (p.Ser1043fs) | MYPN | Pathogenic/Likely pathogenic | 10 | 69955258 | 69955258 | CA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121431884 | 121431884 | C | T | criteria provided, multiple submitters, no conflicts | - |