| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Achromatopsia +1 more | |
| | | Single nucleotide variant (intron variant) | Achromatopsia 3 | |
| | | Deletion (frameshift variant) | CNGB3-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Achromatopsia 3 +3 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Achromatopsia 3 | |
Click to view in NCBI Gene