| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | LOC130060195, LOC130060196 +141 more | Deletion | Li-Fraumeni syndrome | |
| | KCNAB3, LOC130060206 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | ALOX12B, ALOX15B +110 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | GUCY2D-related disorder | |
| | | Deletion (frameshift variant +1 more) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Microsatellite (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +2 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (inframe_insertion) | Leber congenital amaurosis 1 | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Inversion (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | GUCY2D-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | 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) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Duplication (frameshift variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (inframe_deletion) | 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) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +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 (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Deletion (inframe_deletion) | Cone-rod dystrophy 6 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Microsatellite (inframe_deletion) | Choroidal dystrophy, central areolar, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 1 | |
| | | 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 (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +2 more | GConflicting classifications of pathogenicity |
| | | 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) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 6 +1 more | |
| | | Insertion (frameshift variant) | Leber congenital amaurosis 1 | |
| | | 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 (nonsense) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +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 | |