| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PDE6C-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achromatopsia +3 more | |
| | | Single nucleotide variant (nonsense) | Cone dystrophy 4 +1 more | |
Click to view in NCBI Gene