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