rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
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
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
27034144
2016
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
27057652
2016
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
27527340
2016
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
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
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
24893135
2014
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Canadian guideline on genetic screening for hereditary renal cell cancers.
24319509
2013
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
22799452
2012
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
19408298
2009
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau gene in Italian patients.
19464396
2009
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
19408298
2009
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
18446368
2008
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
18584357
2008
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
Genotype-phenotype correlations in von Hippel-Lindau disease.
17024664
2007
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.
17688370
2007
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
17407064
2007
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.
16488999
2006
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography.
11688398
2001
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
G
0.810
CausalMutation
CLINVAR
DNA sequence analysis showed two VHL gene mutations, P25L and P86R , in an individual with a clinical diagnosis of VHL disease.
11257211
2001
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
0.810
GeneticVariation
BEFREE
DNA sequence analysis showed two VHL gene mutations, P25L and P86R , in an individual with a clinical diagnosis of VHL disease.
11257211
2001
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
10761708
2000
rs730882034
×
Entrez Id:
7428
Gene Symbol:
VHL
VHL
Von Hippel-Lindau Syndrome
T
0.810
CausalMutation
CLINVAR
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.
10697963
2000