Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | CausalMutation | CLINVAR | The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers. | 28503760 | 2018 |
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G | 0.700 | CausalMutation | CLINVAR | Mediastinal paragangliomas related to SDHx gene mutations. | 27785149 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. | 25371406 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Phenotype of SDHB mutation carriers in the Netherlands. | 25047027 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Structural basis for malfunction in complex II. | 22904323 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. | 22517554 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. | 22835832 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. | 19454582 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. | 18382370 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. | 17200167 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | Germ-line mutations in nonsyndromic pheochromocytoma. | 12000816 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | Effect of cysteine to serine mutations on the properties of the [4Fe-4S] center in Escherichia coli fumarate reductase. | 7547971 | 1995 |