rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
|
28469506 |
2017 |
rs5030821
|
|
|
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 |
rs5030821
|
|
|
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 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
|
25562111 |
2015 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
BEFREE |
About one third of VHL mutations are missense point mutations, with R167Q being the most common VHL point mutation in hereditary VHL disease.
|
24755468 |
2014 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
|
25371412 |
2014 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs5030821
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
|
22799452 |
2012 |
rs5030821
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.
|
21463266 |
2011 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.
|
20518900 |
2010 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
|
19602254 |
2009 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
|
19252526 |
2009 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
VHL type 2B mutations retain VBC complex form and function.
|
19030229 |
2008 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
|
15300849 |
2004 |
rs5030821
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.
|
15574766 |
2004 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
|
10567493 |
1999 |
rs5030821
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
|
9829911 |
1998 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro.
|
8956040 |
1996 |
rs5030821
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
|
8730290 |
1996 |