| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Infantile convulsions and choreoathetosis +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Episodic kinesigenic dyskinesia 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic kinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Infantile convulsions and choreoathetosis | |
Click to view in NCBI Gene