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