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