| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Functional cardiac paraganglioma associated with a rare SDHC mutation. | 24402737 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). | 24758179 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3). | 24758179 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. | 22517554 | 2012 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. | 22517554 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. | 17667967 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. | 15342702 | 2004 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. | 12658451 | 2003 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. | 12658451 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR |