| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Profound global developmental delay +1 more | |
Click to view in NCBI Gene