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: rs955853011
rs955853011
ZNF253
0.010 GeneticVariation BEFREE The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 26374130

2016
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: rs539400286
rs539400286
CEP290
A 0.700 CausalMutation CLINVAR Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 29398085

2018
dbSNP: rs376493409
rs376493409
CEP290
A 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs62638179
rs62638179
CEP290
A 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
dbSNP: rs750962965
rs750962965
IQCB1
G 0.700 CausalMutation CLINVAR A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 28832562

2017
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 Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971

2016
dbSNP: rs372607453
rs372607453
RBM48
G 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs549662742
rs549662742
PRPF40B ; FAM186B
C 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs61893682
rs61893682
INCENP
C 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs62640570
rs62640570
CEP290
AT 0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
dbSNP: rs727503855
rs727503855
CEP290
A 0.700 CausalMutation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs756302731
rs756302731
CEP290
T 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs764309755
rs764309755
CEP290
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs774456004
rs774456004
PIAS1
T 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 26489029

2016
dbSNP: rs780225183
rs780225183
CEP290
A 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778

2016
dbSNP: rs1280238814
rs1280238814
IQCB1
A 0.700 CausalMutation CLINVAR Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. 25851290

2015
dbSNP: rs137852832
rs137852832
CEP290
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs386834152
rs386834152
CEP290
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs587783017
rs587783017
CEP290
AT 0.700 CausalMutation CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212

2015
dbSNP: rs727503855
rs727503855
CEP290
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015