| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Congenital stationary night blindness 2A | |
| | | Duplication (frameshift variant) | CACNA1F-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aland island eye disease +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene