| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy, 15 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +4 more | |
Click to view in NCBI Gene