Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553341046
rs1553341046
FH
C 0.800 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs1553341046
rs1553341046
FH
0.800 GeneticVariation UNIPROT Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs372505976
rs372505976
FH
C 0.700 GeneticVariation CLINVAR Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 30050099

2019
dbSNP: rs1060500901
rs1060500901
FH
G 0.700 CausalMutation CLINVAR Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 28300276

2017
dbSNP: rs200796606
rs200796606
FH
G 0.700 CausalMutation CLINVAR Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. 28747166

2017
dbSNP: rs863224002
rs863224002
FH
T 0.700 GeneticVariation CLINVAR Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. 28300276

2017
dbSNP: rs1031919395
rs1031919395
FH
T 0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs1060500900
rs1060500900
FH
AG 0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs1060500900
rs1060500900
FH
AG 0.700 CausalMutation CLINVAR Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene. 25913776

2016
dbSNP: rs199971078
rs199971078
FH
C 0.700 CausalMutation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs752232718
rs752232718
FH
C 0.700 GeneticVariation CLINVAR Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. 26574848

2016
dbSNP: rs776806414
rs776806414
FH
C 0.700 GeneticVariation CLINVAR Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. 27037871

2016
dbSNP: rs121913120
rs121913120
FH
A 0.700 CausalMutation CLINVAR Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer. 25923021

2015
dbSNP: rs121913122
rs121913122
FH
A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis associated with renal cell carcinoma. 25477250

2015
dbSNP: rs398123159
rs398123159
FH
T 0.700 CausalMutation CLINVAR Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients. 26457356

2015
dbSNP: rs756469140
rs756469140
FH
G 0.700 CausalMutation CLINVAR An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 25750977

2015
dbSNP: rs1553341367
rs1553341367
FH
A 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014
dbSNP: rs398123164
rs398123164
FH
T 0.700 CausalMutation CLINVAR Germline FH mutations presenting with pheochromocytoma. 25004247

2014
dbSNP: rs756469140
rs756469140
FH
G 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014
dbSNP: rs781466938
rs781466938
FH
AT 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. 24441663

2014
dbSNP: rs863223980
rs863223980
FH
A 0.700 CausalMutation CLINVAR Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. 25292446

2014
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency in dichorionic diamniotic twins. 24182348

2013
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. 23612258

2013
dbSNP: rs863223965
rs863223965
FH
G 0.700 GeneticVariation CLINVAR Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. 22764886

2013
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome. 22127509

2012