| 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 | Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. | 20208144 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Chromosomal changes in sporadic and familial head and neck paragangliomas. | 19393419 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. | 19351833 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. | 19454582 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. | 17652212 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. | 16317055 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. | 16103922 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. | 14500403 | 2003 |