| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 13 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 +2 more | |
| | | Deletion (intron variant) | Leber congenital amaurosis 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Leber congenital amaurosis 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis +3 more | |
Click to view in NCBI Gene