| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis 4 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +4 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 4 +4 more | |
| | | Single nucleotide variant (intron variant +1 more) | Leber congenital amaurosis 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 +5 more | |
Click to view in NCBI Gene