| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +5 more | GPathogenic/Likely pathogenic |
| | GUCA1A, GUCA1ANB-GUCA1A
+1 more (D100G) | Single nucleotide variant (missense variant) | Cone dystrophy 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +10 more | |
| | BEST1, FTH1 (A195V +2 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +11 more | |
| | CEP250, CEP250-AS1 (A609V) | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal dystrophy +1 more | |
Click to view in NCBI Gene