| | GPHN, RDH12 +1 more (V306G) | Single nucleotide variant (missense 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 (missense 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 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Deletion (splice donor 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 (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Deletion (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (splice donor 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) | Retinal dystrophy +1 more | |
| | | 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 (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Microsatellite (intron 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 (E275D) | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (G222W) | 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 | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Duplication (inframe_insertion) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron 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 (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Deletion (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron 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 (Y281*) | Single nucleotide variant (nonsense) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron 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 (missense 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 (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (L266fs) | 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 (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Duplication (splice donor 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 (intron variant) | Leber congenital amaurosis 13 | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Deletion (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (L270fs) | Deletion (frameshift variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 13 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 13 | |
| | GPHN, RDH12 +1 more (A262fs) | Duplication (frameshift variant) | Leber congenital amaurosis 13 | GPathogenic/Likely pathogenic |