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