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: 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: rs1050032491
rs1050032491
SDHD
A 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798

2001
dbSNP: rs1050032491
rs1050032491
SDHD
A 0.700 CausalMutation CLINVAR Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. 17973943

2008
dbSNP: rs1050032491
rs1050032491
SDHD
A 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866

2012
dbSNP: rs1060503769
rs1060503769
SDHD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503770
rs1060503770
SDHD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503773
rs1060503773
SDHD
C 0.700 GeneticVariation CLINVAR

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: rs121908983
rs121908983
SDHD
C 0.700 CausalMutation CLINVAR

dbSNP: rs1306475361
rs1306475361
SDHD
T 0.700 CausalMutation CLINVAR High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 18551016

2008
dbSNP: rs1306475361
rs1306475361
SDHD
T 0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010