| | | Single nucleotide variant (nonsense +1 more) | not provided +5 more | |
| | | Deletion (3 prime UTR variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis 4 | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Leber congenital amaurosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | |
| | | Insertion (frameshift variant +2 more) | Leber congenital amaurosis 4 | |
| | | Duplication (nonsense +2 more) | Leber congenital amaurosis 4 | |
| | | Insertion (frameshift variant +2 more) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 4 | |
| | | Deletion | Leber congenital amaurosis 4 | |