| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Oculocutaneous albinism type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SLC45A2-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | SLC45A2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Oculocutaneous albinism type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC45A2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | SLC45A2-related disorder | |
| | | Duplication (frameshift variant) | SLC45A2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | SLC45A2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocutaneous albinism type 4 +3 more | GConflicting classifications of pathogenicity |
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