| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Achromatopsia +5 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (E2840G +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pigmentary retinopathy +11 more | |
| | | Duplication (frameshift variant +1 more) | Color vision defect +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Enhanced S-cone syndrome +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene