| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088736, LOC132088737 +557 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | LOC129930732, LOC129930733 +269 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | ANKRD13C, ANKRD13C-DT +80 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Deletion (3 prime UTR variant) | Leber congenital amaurosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 2 | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 2 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (nonsense +1 more) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (splice acceptor variant) | RPE65-related recessive retinopathy | |
| | | Deletion (splice acceptor variant) | Leber congenital amaurosis 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 2 | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |