| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Night blindness, congenital stationary, type1i +5 more | |
| | | Deletion (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Choroidal dystrophy, central areolar, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Choroidal dystrophy, central areolar, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
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