rs730882035
|
|
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
|
|
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
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs730882035
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs730882035
|
|
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
|
|
|
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
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
|
7728151 |
1995 |
rs730882035
|
|
|
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
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
rs730882035
|
|
|
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
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
rs730882035
|
|
|
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
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs730882035
|
|
|
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
|
|
|
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
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.
|
24707167 |
2014 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
|
21362373 |
2011 |
rs730882035
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs730882035
|
|
|
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 |