| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
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