Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). 25985877

2015
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation 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: 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: 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 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Clinical and biochemical heterogeneity associated with fumarase deficiency. 21560188

2011
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. 21630274

2011
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. 18366737

2008
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Molecular and biochemical investigations in fumarase deficiency. 16510303

2006
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 16639410

2006
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. 15987702

2005
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Fumarase deficiency presenting with periventricular cysts. 16151915

2005
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 12761039

2003
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Molecular analysis and prenatal diagnosis of human fumarase deficiency. 9635293

1998
dbSNP: rs367543046
rs367543046
FH
ATTT 0.700 GeneticVariation CLINVAR Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. 9300800

1997