| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC102724058, SCN1A (Y1424D +5 more) | Single nucleotide variant (missense variant +1 more) | Sudden unexplained death in childhood | |
| | LOC102724058, SCN1A (L1296M +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Sudden unexplained death in childhood | |
Click to view in NCBI Gene