Gene: SDHD ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy. 22025150

2011
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540

2003
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894303
rs104894303
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322

2001
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Carotid body paraganglioma and SDHD mutation in a Greek family. 16080474

2005
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: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255

2014
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055

2006
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Systematic screening and treatment evaluation of hereditary neck paragangliomas. 17563904

2007
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498

2013
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. 22456618

2012
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: rs104894305
rs104894305
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498

2013
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 11605159

2001
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798

2001
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866

2012
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401

2009
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554

2012
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055

2006
dbSNP: rs104894307
rs104894307
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654

2003