| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (splice donor variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skin +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | TYR-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | OCA2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tyrosinase-positive oculocutaneous albinism +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Oculocutaneous albinism | |
| | | Microsatellite (3 prime UTR variant) | Oculocutaneous albinism | |
| | | Duplication (3 prime UTR variant) | Oculocutaneous albinism | |
| | | Microsatellite (3 prime UTR variant) | Oculocutaneous albinism | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +2 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +3 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +3 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Oculocutaneous albinism +2 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Oculocutaneous albinism +2 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Oculocutaneous albinism +2 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Oculocutaneous albinism +1 more | |
| | AMACR, C1QTNF3-AMACR +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Oculocutaneous albinism +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Oculocutaneous albinism +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant +1 more) | Hermansky-Pudlak syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (3 prime UTR variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (5 prime UTR variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (5 prime UTR variant) | Oculocutaneous albinism | |
| | | Single nucleotide variant (synonymous variant) | TYR-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +9 more | GConflicting classifications of pathogenicity |
| | AMACR, C1QTNF3-AMACR +1 more (E277K) | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (nonsense) | TYR-related condition +6 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Oculocutaneous albinism +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (intron variant) | TYR-related condition +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +5 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TYR-related condition +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | TYR-related condition +7 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +6 more | |
| | | Single nucleotide variant (missense variant) | TYR-related condition +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +7 more | |
| | | Single nucleotide variant (missense variant) | OCA2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |