| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Copy number loss | Ocular albinism, type I | |
| | | Deletion (frameshift variant) | Ocular albinism, type I | |
| | | Deletion (splice acceptor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Ocular albinism, type I +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (splice acceptor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type I +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Duplication (frameshift variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type I | |
| | | Deletion (splice donor variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular albinism, type I +1 more | |
| | | Deletion (frameshift variant) | Ocular albinism, type I | |
| | | Deletion | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Single nucleotide variant (missense variant) | Ocular albinism, type I | |
| | | Duplication (frameshift variant) | Ocular albinism, type I | |