| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. | 19270817 | 2009 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C. | 17922902 | 2007 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. | 17688370 | 2007 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. | 16142346 | 2005 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Genetic testing in pheochromocytoma or functional paraganglioma. | 16314641 | 2005 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. | 10761708 | 2000 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. | 11114638 | 2000 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. | 8863170 | 1996 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. | 8956040 | 1996 |