| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | GUCY2D-related condition | |
| | | Single nucleotide variant (missense variant) | GUCY2D-related condition | |
| | | Single nucleotide variant (synonymous variant) | GUCY2D-related condition | |
| | | Single nucleotide variant (intron variant) | GUCY2D-related condition | |
| | | Single nucleotide variant (synonymous variant) | GUCY2D-related condition | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Microsatellite (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (splice acceptor variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (intron variant) | Leber congenital amaurosis 1 +1 more | |