| | A2ML1-AS2, A3GALT2 +2151 more | Copy number gain | Trisomy 12p | |
| | | Copy number loss | See cases | |
| | LINC02783, LINC03126 +804 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | LOC129929435, LOC129929436 +505 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929327, LOC129929328 +557 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +387 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +386 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | AADACL3, AADACL4 +370 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 9 | |
| | | Deletion | Leber congenital amaurosis 9 | |
| | | Deletion | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | NMNAT1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (splice acceptor variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Microsatellite (frameshift variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Duplication (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Duplication (splice acceptor variant +1 more) | Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +1 more | |
| | | Deletion | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 9 | |