| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Severe early-childhood-onset retinal dystrophy +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (intron variant) | Usher syndrome type 2A +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Usher syndrome +22 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stargardt disease 4 +4 more | GConflicting classifications of pathogenicity |
| | CNGA1, LOC101927157 (A524P) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Deletion (frameshift variant) | PRPH2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene