| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (S1505* +5 more) | Single nucleotide variant (nonsense +1 more) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Severe myoclonic epilepsy in infancy | |
Click to view in NCBI Gene