| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CATIP-AS2, PNKD (R74L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R101W +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | GConflicting classifications of pathogenicity |
| | PNKD, CATIP-AS2 (T111A +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | CATIP-AS2, PNKD (R344W +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene