| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Retinal dystrophy | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Microsatellite (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (T221I) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (G222W) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, RDH12 +1 more (G222R) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (V223F) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | GPHN, RDH12 +1 more (V223D) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | GPHN, RDH12 +1 more (T224I) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (Y226C) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12 +1 more (A227fs) | Deletion (frameshift variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | RDH12, ZFYVE26 +1 more (P230A) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (G231R) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, RDH12 +1 more (R234fs) | Duplication (frameshift variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (V233L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12 +1 more (V233I) | Single nucleotide variant (missense variant) | Macular dystrophy | |
| | RDH12, ZFYVE26 +1 more (V233F) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | ZFYVE26, RDH12 +1 more (V233D) | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | GPHN, RDH12 +1 more (V233E) | Indel (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | RDH12-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, ZFYVE26 +1 more (R234C) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (R234H) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +4 more | GConflicting classifications of pathogenicity |
| | GPHN, RDH12 +1 more (L237V) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | RDH12, GPHN +1 more (V238L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, RDH12 +1 more (R239fs) | Duplication (frameshift variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (R239W) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12 +1 more (R239Q) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (R239L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | GPathogenic/Likely pathogenic |
| | GPHN, RDH12 +1 more (H240R) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (S242fs) | Deletion (frameshift variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (L244P) | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | GPHN, RDH12 +1 more (C245G) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (L247F) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (R249W) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (L250F) | Single nucleotide variant (missense variant) | Retinitis Pigmentosa, Recessive +2 more | |
| | ZFYVE26, GPHN +1 more (L250P) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, ZFYVE26 +1 more (F251L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (F254fs) | Duplication (frameshift variant) | Abnormality of the eye | |
| | RDH12, GPHN +1 more (S252F) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (S252Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | ZFYVE26, GPHN +1 more (F254fs) | Deletion (frameshift variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (P253T) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | |
| | GPHN, RDH12 +1 more (P253H) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (P253R) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 +1 more | |
| | GPHN, RDH12 +1 more (P253L) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, GPHN +1 more (F254fs) | Insertion (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, RDH12 +1 more (V255G) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (K256Q) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (T257M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (R259L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GPHN, RDH12 +1 more (E260fs) | Deletion (frameshift variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (A262fs) | Duplication (frameshift variant) | Leber congenital amaurosis 13 | GPathogenic/Likely pathogenic |
| | ZFYVE26, GPHN +1 more (A262fs) | Duplication (frameshift variant) | Leber congenital amaurosis 13 | |
| | ZFYVE26, RDH12 +1 more (E260D) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (A262fs) | Deletion (frameshift variant) | Leber congenital amaurosis 13 +1 more | |