Von Hippel-Lindau Syndrome
|
|
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 |
Von Hippel-Lindau Syndrome
|
|
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 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
Pheochromocytoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
Pheochromocytoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
Pheochromocytoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.
|
17922902 |
2007 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
|
17661816 |
2007 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
|
8707293 |
1996 |
Von Hippel-Lindau Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Von Hippel-Lindau Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
Pheochromocytoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.
|
17922902 |
2007 |
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
|
17661816 |
2007 |
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
ERYTHROCYTOSIS, FAMILIAL, 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.
|
8707293 |
1996 |