| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | VPS16-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | VPS16-related condition | |
| | PTPRA, VPS16 (E396K +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | VPS16-related condition | |
Click to view in NCBI Gene