Gene: SDHD ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923

2016
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Mediastinal paragangliomas related to SDHx gene mutations. 27785149

2016
dbSNP: rs104894309
rs104894309
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography. 25791839

2015
dbSNP: rs1060503770
rs1060503770
SDHD
T 0.700 CausalMutation CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102

2015
dbSNP: rs1060503770
rs1060503770
SDHD
T 0.700 CausalMutation CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320

2015
dbSNP: rs587776649
rs587776649
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Succinate dehydrogenase-deficient gastrointestinal stromal tumors. 25741136

2015
dbSNP: rs755047928
rs755047928
SDHD
T 0.700 GeneticVariation CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102

2015
dbSNP: rs786205436
rs786205436
SDHD
T 0.700 GeneticVariation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889

2015
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
dbSNP: rs80338845
rs80338845
SDHD
T 0.700 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255

2014
dbSNP: rs755047928
rs755047928
SDHD
T 0.700 GeneticVariation CLINVAR Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. 24859990

2014
dbSNP: rs786205436
rs786205436
SDHD
T 0.700 GeneticVariation CLINVAR Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations. 25300370

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency. 25014000

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report. 24758185

2014
dbSNP: rs80338845
rs80338845
SDHD
T 0.700 CausalMutation CLINVAR Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations. 25300370

2014
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs1131691065
rs1131691065
SDHD
A 0.700 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077

2013
dbSNP: rs587782210
rs587782210
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations. 22290790

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498

2013