Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs1060499781
rs1060499781
CEP290
ACC 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs1060500123
rs1060500123
OFD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501006
rs1060501006
RPGRIP1L
TAA 0.700 CausalMutation CLINVAR

dbSNP: rs1064792983
rs1064792983
TMEM67
GG 0.700 CausalMutation CLINVAR

dbSNP: rs1114167302
rs1114167302
MKS1
A 0.700 GeneticVariation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014

2016
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 CausalMutation CLINVAR Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 20512146

2010
dbSNP: rs11230683
rs11230683
TMEM216
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs1170451277
rs1170451277
CEP290
A 0.700 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841

2011
dbSNP: rs1170451277
rs1170451277
CEP290
A 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
dbSNP: rs1182447072
rs1182447072
RPGRIP1L
G 0.700 CausalMutation CLINVAR

dbSNP: rs1192112844
rs1192112844
CEP290
A 0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
dbSNP: rs1192112844
rs1192112844
CEP290
A 0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006
dbSNP: rs1192112844
rs1192112844
CEP290
A 0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs1213286417
rs1213286417
CEP290
C 0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
dbSNP: rs1213286417
rs1213286417
CEP290
C 0.700 CausalMutation CLINVAR Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 29588463

2018
dbSNP: rs121434350
rs121434350
AHI1
0.010 GeneticVariation BEFREE We show that cells transfected with AHI1-V443D, or a new JBTS-causing mutation, AHI1-R351L, have aberrant localization of AHI1 at the basal bodies of PC and at cell-cell junctions, likely through decreased binding of mutant AHI1 to NPHP1 (another JBTS-causing protein). 23532844

2013
dbSNP: rs121434351
rs121434351
AHI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
A 0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs121918198
rs121918198
RPGRIP1L
0.710 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 19430481

2009
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011