| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (frameshift variant) | Tyrosinase-negative oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Tyrosinase-negative oculocutaneous albinism | |
Click to view in NCBI Gene