| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (nonsense) | SPATA7-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (splice donor variant) | Retinal dystrophy | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 3 | |
| | | Deletion (nonsense) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | Leber congenital amaurosis 3 | |
Click to view in NCBI Gene