| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. | 27617348 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. | 27527340 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). | 25720320 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. | 24301059 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular basis of von Hippel-Lindau syndrome in Chinese patients. | 21362373 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. | 19270817 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. | 8956040 | 1996 |
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T | 0.700 | CausalMutation | CLINVAR | Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. | 8730290 | 1996 |
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T | 0.700 | CausalMutation | CLINVAR | A novel mutation in the von Hippel-Lindau gene. | 7987327 | 1994 |