| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Albinism or congenital nystagmus +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Oculocutaneous albinism type 1B | |
Click to view in NCBI Gene