| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Dystonia 30 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | VPS16-associated disorder | |
| | | Single nucleotide variant (nonsense) | Dystonia 30 +1 more | |
| | VPS16, PTPRA (R491* +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Dystonia 30 +1 more | |
| | PTPRA, VPS16 (N519fs +1 more) | Insertion (5 prime UTR variant +1 more) | Dystonia 30 | |
Click to view in NCBI Gene