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.1135C>T (p.Gln379Ter) | SCN5A | Pathogenic | 3 | 38648165 | 38648165 | G | A | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_37452365)_(38950372_?)del | SCN5A | Pathogenic | 3 | 37493856 | 38991863 | na | na | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_38609714)_(38609984_?)del | SCN5A | Likely pathogenic | 3 | 38651205 | 38651475 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000335.5(SCN5A):c.4243-2A>G | SCN5A | Likely pathogenic | 3 | 38598777 | 38598777 | T | C | criteria provided, single submitter | - |
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 | - |