rs730882034
|
|
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
|
|
Von Hippel-Lindau Syndrome
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
|
27034144 |
2016 |
rs730882034
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs730882034
|
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs730882034
|
|
Von Hippel-Lindau Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs730882034
|
|
Von Hippel-Lindau Syndrome
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
|
22799452 |
2012 |
rs730882034
|
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Germline mutations in the von Hippel-Lindau gene in Italian patients.
|
19464396 |
2009 |
rs730882034
|
|
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
|
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
|
18584357 |
2008 |
rs730882034
|
|
Von Hippel-Lindau Syndrome
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in von Hippel-Lindau disease.
|
17024664 |
2007 |
rs730882034
|
|
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
|
|
Von Hippel-Lindau Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
|
17407064 |
2007 |
rs730882034
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 |