Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report. | 25130709 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Renal tumors associated with germline SDHB mutation show distinctive morphology. | 21934479 | 2011 |
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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 | 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 | Genetics of pheochromocytoma and paraganglioma in Spanish patients. | 19258401 | 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 | High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. | 18551016 | 2008 |
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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 | Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. | 16304664 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. | 15328326 | 2004 |