| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Seizure +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 11 +1 more | |
Click to view in NCBI Gene