| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Tyrosinase-negative oculocutaneous albinism +6 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skin +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +6 more | |
| | | Single nucleotide variant (missense variant) | TYR-related condition +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene