Gene: SDHD ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. 15479192

2004
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622

2011
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817

2002
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Genetic testing in head and neck paraganglioma: who, what, and why? 24436918

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866

2012
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009
dbSNP: rs80338845
rs80338845
SDHD
T 0.800 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
dbSNP: rs80338845
rs80338845
SDHD
T 0.800 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866

2012
dbSNP: rs80338845
rs80338845
SDHD
T 0.800 CausalMutation CLINVAR The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 19584903

2010
dbSNP: rs1060503770
rs1060503770
SDHD
T 0.710 CausalMutation CLINVAR

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 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 GeneticVariation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009
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 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 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055

2006
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255

2014