| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (nonsense) | Oculocutaneous albinism type 1B +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Insertion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Indel (splice donor variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinase-negative oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Tyrosinase-negative oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skin +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Oculocutaneous albinism type 1B +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Tyrosinase-negative oculocutaneous albinism +2 more | |
| | | Single nucleotide variant (nonsense) | Tyrosinase-negative oculocutaneous albinism +4 more | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Oculocutaneous albinism +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | |
| | | Single nucleotide variant (nonsense) | Tyrosinase-negative oculocutaneous albinism +3 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinase-negative oculocutaneous albinism +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ocular albinism +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +5 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +5 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism +5 more | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism type 1B +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +5 more | |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +3 more | |