| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
Click to view in NCBI Gene