| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Tyrosinase-negative oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | TYR-related condition +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene