| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Achromatopsia 7 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Insertion (frameshift variant) | Achromatopsia 7 | |
| | | Single nucleotide variant (missense variant) | Achromatopsia 7 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
Click to view in NCBI Gene