| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (splice donor variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
Click to view in NCBI Gene