| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Achromatopsia 7 | |
| | | Single nucleotide variant (splice acceptor variant) | Achromatopsia 7 | |
| | | Single nucleotide variant (nonsense) | Achromatopsia 7 | |
| | | Single nucleotide variant (splice acceptor variant) | Achromatopsia 7 | |
| | | Duplication | Achromatopsia 7 | |
Click to view in NCBI Gene