Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894465
rs104894465
OTX2
0.010 GeneticVariation BEFREE Subsequently an OTX2 nonsense mutation (p.Y179X) was identified and shown to be inherited from her father who was initially diagnosed with Leber's congenital amaurosis. 17406642

2007
dbSNP: rs104894470
rs104894470
GPHN ; RDH12
0.010 GeneticVariation BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517

2007
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
0.010 GeneticVariation BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517

2007
dbSNP: rs104894671
rs104894671
CRX
0.010 GeneticVariation BEFREE Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. 10967037

2000
dbSNP: rs104894673
rs104894673
CRX
0.030 GeneticVariation BEFREE Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 9931337

1999
dbSNP: rs104894673
rs104894673
CRX
0.030 GeneticVariation BEFREE Although most heterozygous pathogenic variants in CRX are associated with autosomal dominant retinal degeneration, a homozygous c.268C> T (p.Arg90Trp) substitution and homozygous complete deletion of CRX have been reported to cause Leber congenital amaurosis. 31626798

2019
dbSNP: rs104894673
rs104894673
CRX
0.030 GeneticVariation BEFREE Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. 10967037

2000
dbSNP: rs1051367143
rs1051367143
IMPDH1
0.010 GeneticVariation BEFREE We successfully identified causative mutations in patients from the Chinese families with RDS: the known mutation IMPDH1 c.942_944delGAA in a family with retinitis pigmentosa, the novel mutation ABCA4 c.1924T>A in a family with Stargardt disease, and the novel mutation NMNAT1 c.272A>G and known mutation NMNAT1 c.196C>T in a family with Leber congenital amaurosis. 24791140

2014
dbSNP: rs1057518122
rs1057518122
RPGRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs114342808
rs114342808
CRB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs116733939
rs116733939
GPHN ; RDH12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1191496583
rs1191496583
RPE65
T 0.700 GeneticVariation CLINVAR

dbSNP: rs119489105
rs119489105
MERTK
0.010 GeneticVariation BEFREE One patient with a known MERTK mutation (p.R651X) was identified using the Asper Ophthalmics Leber congenital amaurosis chip. 20300561

2010
dbSNP: rs121908449
rs121908449
RGS9
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121917744
rs121917744
RPE65
0.010 GeneticVariation BEFREE Here we report that single point mutations of RPE65, Y144D and P363T, identified in patients with Leber's congenital amaurosis (LCA), significantly decreased the stability of RPE65. 16828753

2006
dbSNP: rs121917745
rs121917745
RPE65
0.020 GeneticVariation BEFREE The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's congenital amaurosis. 15557452

2004
dbSNP: rs121917745
rs121917745
RPE65
0.020 GeneticVariation BEFREE Here, we show that three Leber congenital amaurosis -associated RPE65 mutants (R91W, Y249C and R515W) undergo rapid proteasomal degradation mediated by the 26 S proteasome non-ATPase regulatory subunit 13 (PSMD13) in cultured human retinal pigment epithelium (RPE) cells. 25752820

2015
dbSNP: rs121918165
rs121918165
LCA5
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918844
rs121918844
RPE65
GA 0.700 CausalMutation CLINVAR

dbSNP: rs137853124
rs137853124
RPGRIP1
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1400815962
rs1400815962
RPE65
0.010 GeneticVariation BEFREE Here we compared the impacts of two mutations in RPE65, E417Q identified in patients with Leber congenital amaurosis (LCA), and E417D on isomerohydrolase activity. 20043869

2010
dbSNP: rs1420672586
rs1420672586
RPE65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1420672586
rs1420672586
RPE65
A 0.700 CausalMutation CLINVAR

dbSNP: rs142326926
rs142326926
AIPL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1429137932
rs1429137932
RPE65
A 0.700 GeneticVariation CLINVAR