| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SCN8A-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice donor variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 13 | |
Click to view in NCBI Gene