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 | - |
single nucleotide variant | NM_000335.5(SCN5A):c.4243-2A>G | SCN5A | Likely pathogenic | 3 | 38598777 | 38598777 | T | C | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_38609714)_(38609984_?)del | SCN5A | Likely pathogenic | 3 | 38651205 | 38651475 | na | na | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_37452365)_(38950372_?)del | SCN5A | Pathogenic | 3 | 37493856 | 38991863 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter) | SCN5A | Pathogenic | 3 | 38648165 | 38648165 | G | A | criteria provided, single submitter | - |
Duplication | NM_000335.5(SCN5A):c.2298dup (p.Lys767fs) | SCN5A | Pathogenic | 3 | 38629028 | 38629029 | T | TG | criteria provided, single submitter | - |
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.1066G>T (p.Asp356Tyr) | SCN5A | Likely pathogenic | 3 | 38648234 | 38648234 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) | SCN5A | Likely pathogenic | 3 | 38597226 | 38597226 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter) | SCN5A | Likely pathogenic | 3 | 38622704 | 38622704 | A | T | criteria provided, single submitter | - |