Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Are these compound heterozygous mutations of SDHB really mutations? 20213850

2010

dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 20503330

2010

dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. 20418362

2010

dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 19576851

2009

dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Malignant paraganglioma associated with succinate dehydrogenase subunit B in an 8-year-old child: the age of first screening? 19189136

2009

dbSNP: rs267607032
rs267607032
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene. 18840642

2008

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. 25371406

2015

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis. 26302408

2015

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. 23072324

2013

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
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

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 15328326

2004

dbSNP: rs397516834
rs397516834
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923

2016

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. 23640968

2013

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Structural basis for malfunction in complex II. 22904323

2012

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. 19261679

2009

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Crystal structure of mitochondrial respiratory membrane protein complex II. 15989954

2005

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Crystallographic studies of the Escherichia coli quinol-fumarate reductase with inhibitors bound to the quinol-binding site. 11850430

2002

dbSNP: rs397516835
rs397516835
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 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

dbSNP: rs397516836
rs397516836
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 29386252

2018

dbSNP: rs397516836
rs397516836
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Rapid-sequence MRI for long-term surveillance for paraganglioma and phaeochromocytoma in patients with succinate dehydrogenase mutations. 27634942

2016

dbSNP: rs397516836
rs397516836
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 26173966

2016

dbSNP: rs397516836
rs397516836
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. 25371406

2015

dbSNP: rs397516836
rs397516836
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832

2012