| | | Deletion | Leber congenital amaurosis 7 +1 more | |
| | | Duplication | Leber congenital amaurosis 7 +1 more | |
| | | Duplication | Leber congenital amaurosis 7 +1 more | |
| | | Deletion | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Cone-rod dystrophy 2 | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Duplication (frameshift variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Microsatellite (frameshift variant) | Cone-rod dystrophy 2 +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Deletion (nonsense) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 7 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Copy number loss | Cone-rod dystrophy 2 | |
| | | Copy number loss | Cone-rod dystrophy 2 | |
| | | Copy number loss | Cone-rod dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +2 more | |
| | | Deletion | Leber congenital amaurosis 7 +1 more | |
| | | Deletion | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cone-rod dystrophy 2 +1 more | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 7 +1 more | |
| | | Deletion (inframe_deletion) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 7 +1 more | |
| | | Duplication (frameshift variant) | Cone-rod dystrophy 2 | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 2 | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 7 +1 more | |