| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Duplication (frameshift variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Deletion (nonsense) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (synonymous variant) | RPE65-related recessive retinopathy | |
| | | Insertion (frameshift variant) | RPE65-related recessive retinopathy | |
| | | 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 (intron variant) | Retinitis pigmentosa 20 +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 (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | 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 | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 20 +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 (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Duplication (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Duplication (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Duplication (frameshift variant +2 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Microsatellite (splice donor variant) | Leber congenital amaurosis 2 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 2 +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 2 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (frameshift variant +2 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Deletion (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 20 +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 (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 2 +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 (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 2 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 20 +1 more | |