Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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_004006.3(DMD):c.1705-2A>G | DMD | Pathogenic/Likely pathogenic | X | 32591756 | 32591756 | T | C | 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_000335.5(SCN5A):c.535C>T (p.Arg179Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38662410 | 38662410 | G | A | criteria provided, multiple submitters, no conflicts | - |