Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894760
rs104894760
AVPR2
0.010 GeneticVariation BEFREE Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys) associated with partial nephrogenic diabetes insipidus.He was started on daily desmopressin. 27350623

2017
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 CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
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: rs1170451277
rs1170451277
CEP290
A 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400

2012
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: 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: 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 CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
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: 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: rs1278679056
rs1278679056
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617

2013
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970

2006
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967

2007
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082

2011
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971

2016
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042

2012
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
dbSNP: rs1555201796
rs1555201796
CEP290
G 0.700 CausalMutation CLINVAR