| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Achromatopsia 3 +2 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene