| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (T1541fs +5 more) | Deletion (frameshift variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (G1246V +5 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 6B | |
| | | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene