| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Infantile convulsions and choreoathetosis | |
| | | Duplication (frameshift variant) | Seizures, benign familial infantile, 2 +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic kinesigenic dyskinesia +2 more | |
Click to view in NCBI Gene