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: rs1060499938
rs1060499938
NPHP3 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

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: rs119456959
rs119456959
NPHP3 ; NPHP3-ACAD11
T 0.700 CausalMutation CLINVAR Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122

2003
dbSNP: rs1210874691
rs1210874691
NPHP4
A 0.700 CausalMutation CLINVAR

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: rs121907898
rs121907898
NPHP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121907899
rs121907899
NPHP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918244
rs121918244
IQCB1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121964994
rs121964994
INVS
T 0.700 CausalMutation CLINVAR Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123

2003
dbSNP: rs121964994
rs121964994
INVS
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs1278679056
rs1278679056
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs1280238814
rs1280238814
IQCB1
A 0.700 CausalMutation CLINVAR IQCB1 mutations in patients with leber congenital amaurosis. 20881296

2011
dbSNP: rs1280238814
rs1280238814
IQCB1
A 0.700 CausalMutation CLINVAR Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. 25851290

2015
dbSNP: rs1322951938
rs1322951938
INVS
C 0.700 GeneticVariation CLINVAR Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123

2003
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