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