| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with involuntary movements +5 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
Click to view in NCBI Gene