| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CATIP-AS2, PNKD (H210N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Duplication (frameshift variant) | Self-limited familial infantile epilepsy +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene