| | | Single nucleotide variant (3 prime UTR variant) | Tyrosinase-positive oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Tyrosinase-positive oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (splice donor variant) | Tyrosinase-positive oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | OCA2-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Tyrosinase-positive oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay with autism spectrum disorder and gait instability +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Prader-Willi syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | HERC2-related disorder +4 more | |