|
rs28940298
|
|
|
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
|
|
|
0.820 |
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 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs28940298
|
|
|
0.820 |
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 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
|
21606165 |
2011 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.
|
19494350 |
2009 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.
|
17992257 |
2007 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
|
16210343 |
2006 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
|
14726398 |
2004 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Endemic polycythemia in Russia: mutation in the VHL gene.
|
11987242 |
2003 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia.
|
12415268 |
2002 |
|
rs28940298
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia.
|
12415268 |
2002 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.
|
10635329 |
1999 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
|
10533030 |
1999 |
|
rs28940298
|
|
|
0.820 |
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 |
|
rs28940298
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
|
9452032 |
1998 |
|
rs28940298
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
|
9829912 |
1998 |