| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 2 +6 more | |
| | | Single nucleotide variant (nonsense) | RPE65-related recessive retinopathy | |
| | ABCA4, LOC126805793 (R1640W +1 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GPathogenic/Likely pathogenic; other |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 8 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 8 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | CRB1-related disorder +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Congenital stationary night blindness 1B +2 more | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Deletion (frameshift variant) | Retinal dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 14 | |
| | | Single nucleotide variant (nonsense) | CEP290-Related Disorders +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 5 +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis | |
| | | Microsatellite (inframe_deletion) | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 4 | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Deletion | Leber congenital amaurosis | |
| | | Deletion | Leber congenital amaurosis | |