| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | CATIP-AS2, PNKD (G221C +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | CATIP-AS2, PNKD (L348P +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Duplication (frameshift variant) | Episodic kinesigenic dyskinesia +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene