rs140511594
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation.
|
24876116 |
2014 |
rs587777353
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.
|
26374130 |
2016 |
rs104894760
|
|
|
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 |
rs955853011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.
|
26374130 |
2016 |
rs140511594
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation.
|
24876116 |
2014 |
rs140511594
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
|
21258341 |
2011 |
rs1060499938
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1170451277
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
|
23351400 |
2012 |
rs1170451277
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
|
21153841 |
2011 |
rs1192112844
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
|
17345604 |
2007 |
rs1192112844
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
|
16909394 |
2006 |
rs1192112844
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
|
20690115 |
2010 |
rs1210874691
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918244
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1278679056
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1280238814
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
IQCB1 mutations in patients with leber congenital amaurosis.
|
20881296 |
2011 |
rs1280238814
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
|
25851290 |
2015 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
|
22355252 |
2012 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
|
16682973 |
2006 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
|
16682970 |
2006 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
|
17564967 |
2007 |
rs137852832
|
|
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 |
rs137852832
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
|
27353947 |
2016 |
rs137852832
|
|
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 |