| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with involuntary movements | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 17 | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 17 | |
Click to view in NCBI Gene