rs397516444
|
|
|
0.800 |
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 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs397516444
|
|
|
0.800 |
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 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.
|
19228690 |
2009 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
|
18584357 |
2008 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells.
|
18544564 |
2008 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail.
|
17060462 |
2007 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity.
|
11865071 |
2002 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.
|
10878807 |
2000 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein.
|
10587522 |
1999 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
|
10408776 |
1999 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
|
10533030 |
1999 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma.
|
10458336 |
1999 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
|
10635329 |
1999 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
|
10627136 |
1998 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
|
9452032 |
1998 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
|
9452032 |
1998 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |
rs397516444
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
rs397516444
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
|
9452106 |
1998 |