| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the skin +18 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Tyrosinase-negative oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Albinism or congenital nystagmus +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Albinism +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene