Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223973
rs863223973
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 21051878

2010
dbSNP: rs863223972
rs863223972
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. 16597677

2006
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 15937070

2006
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 16029320

2005
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013

2012
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. 22565324

2012
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase. 24419633

2014
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. 12772087

2003
dbSNP: rs863223966
rs863223966
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011
dbSNP: rs797044973
rs797044973
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005
dbSNP: rs797044973
rs797044973
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 15663510

2005
dbSNP: rs797044973
rs797044973
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005
dbSNP: rs786202907
rs786202907
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786202220
rs786202220
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs779707997
rs779707997
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
dbSNP: rs768182640
rs768182640
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TCA 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome. 25750977

2015
dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. 14632190

2003
dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. 15761418

2005
dbSNP: rs756469140
rs756469140
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. 15663510

2005
dbSNP: rs752232718
rs752232718
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis. 22561013

2012
dbSNP: rs752232718
rs752232718
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 11865300

2002
dbSNP: rs752232718
rs752232718
FH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Structural basis of fumarate hydratase deficiency. 21445611

2011