| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Enhanced S-cone syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 37 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene