| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (L1298F +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more | |
Click to view in NCBI Gene