rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
21715564
2011
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q ), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes.
25371412
2014
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
Canadian guideline on genetic screening for hereditary renal cell cancers.
24319509
2013
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
23842656
2013
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
BEFREE
We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q ), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes.
25371412
2014
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
7728151
1995
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
BEFREE
Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q ) in a patient with a peculiar phenotype with type 2C VHL syndrome .
17102087
2006
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
9829911
1998
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
15300849
2004
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
BEFREE
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
23842656
2013
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
BEFREE
Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome .
20960261
2010
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
24707167
2014
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
21362373
2011
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
A
0.850
CausalMutation
CLINVAR
Germ-line mutations in nonsyndromic pheochromocytoma.
12000816
2002
rs730882035
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.850
GeneticVariation
BEFREE
We identified a missense mutation of VHL gene, 695 G --> A (R161Q ), in a Japanese kindred with type 2A VHL syndrome .
14767570
2004
rs28940298
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.820
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs28940298
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.820
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs28940298
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.820
GeneticVariation
UNIPROT
Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
10627136
1998
rs28940298
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.820
CausalMutation
CLINVAR
Endemic polycythemia in Russia: mutation in the VHL gene.
11987242
2003