| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | Congenital isolated adrenocorticotropic hormone deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +2 more | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | RPE65-related recessive retinopathy | |
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