| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Congenital stationary night blindness 1B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital stationary night blindness 1B | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital stationary night blindness 1B | |
Click to view in NCBI Gene