Gene: FH ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 26900816

2016
dbSNP: rs1553341942
rs1553341942
FH
CT 0.700 CausalMutation CLINVAR Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 26900816

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: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Reed syndrome presenting with leiomyosarcoma. 27051714

2015
dbSNP: rs199822819
rs199822819
FH
C 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs200796606
rs200796606
FH
G 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

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

2015
dbSNP: rs768182640
rs768182640
FH
TCA 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
dbSNP: rs863223980
rs863223980
FH
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1060499635
rs1060499635
FH
A 0.700 GeneticVariation CLINVAR Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase. 24419633

2014
dbSNP: rs1131691238
rs1131691238
FH
T 0.700 GeneticVariation CLINVAR Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase. 24419633

2014
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma. 24625422

2014
dbSNP: rs1553341945
rs1553341945
FH
TA 0.700 CausalMutation CLINVAR Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. 25012257

2014
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: rs398123164
rs398123164
FH
T 0.700 GeneticVariation 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: rs863223966
rs863223966
FH
C 0.700 GeneticVariation CLINVAR Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase. 24419633

2014
dbSNP: rs863223973
rs863223973
FH
C 0.700 GeneticVariation CLINVAR Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas. 24684806

2014
dbSNP: rs876660446
rs876660446
FH
T 0.700 GeneticVariation CLINVAR Germline FH mutations presenting with pheochromocytoma. 25004247

2014
dbSNP: rs1060499635
rs1060499635
FH
A 0.700 GeneticVariation CLINVAR Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer. 22982371

2013
dbSNP: rs121913121
rs121913121
FH
G 0.700 CausalMutation CLINVAR Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 23211287

2013
dbSNP: rs121913123
rs121913123
FH
T 0.700 CausalMutation CLINVAR Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome. 23211287

2013