| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | PNKP-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PNKP-related condition +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene