| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Albinism or congenital nystagmus +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Oculocutaneous albinism type 4 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene