| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Ocular albinism, type II +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Congenital stationary night blindness 2A +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital stationary night blindness 2A | |
Click to view in NCBI Gene