| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LURAP1L-AS1, TYRP1 (K368fs) | Deletion (frameshift variant) | Oculocutaneous albinism type 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene