Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. | 21173220 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. | 19802898 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. | 20119652 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. | 19184535 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. | 18382370 | 2008 |
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|
A | 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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|
A | 0.700 | CausalMutation | CLINVAR | A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene. | 17143317 | 2006 |
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|
T | 0.700 | GeneticVariation | CLINVAR |