Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315370
rs74315370
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas]. 21909610

2011
dbSNP: rs587779143
rs587779143
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation]. 15945244

2005
dbSNP: rs63750206
rs63750206
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [The analysis for mRNA mutation of MLH1, MSH2 genes and the gene diagnosis for hereditary nonpolyposis colorectal cancer]. 16456782

2006
dbSNP: rs864622639
rs864622639
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR [Phenotypic and genetic features in neurofibromatosis type 1 in children]. 25541118

2015
dbSNP: rs760703505
rs760703505
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Phenotypic and genetic features in neurofibromatosis type 1 in children]. 25541118

2015
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai]. 16324400

2005
dbSNP: rs45517182
rs45517182
TSC2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Mutation screening and prenatal diagnosis of tuberous sclerosis complex]. 21811971

2011
dbSNP: rs63751657
rs63751657
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]. 14514376

2003
dbSNP: rs63751465
rs63751465
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR [Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]. 14514376

2003
dbSNP: rs587778930
rs587778930
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR [Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]. 14514376

2003
dbSNP: rs267607853
rs267607853
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families]. 14514376

2003
dbSNP: rs63751119
rs63751119
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR [Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis]. 10530344

1999
dbSNP: rs587782529
rs587782529
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. 20478780

2010
dbSNP: rs267607901
rs267607901
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016
dbSNP: rs63749792
rs63749792
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR [Detection mutations in the DNA mismatch repair genes of hMLH1 and hMSH2 genes in Colombian families with suspicion of hereditary non-polyposis colorectal carcinoma (Lynch syndrome)]. 16276679

2005
dbSNP: rs730882005
rs730882005
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. 12406399

2002
dbSNP: rs1057519981
rs1057519981
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. 12406399

2002
dbSNP: rs1057519981
rs1057519981
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR [Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers]. 12406399

2002
dbSNP: rs267607760
rs267607760
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR [Clinical value of screening hereditary nonpolyposis colorectal cancer in China with protocol recommended by NCCN guidelines]. 18636350

2008
dbSNP: rs878855217
rs878855217
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs776896550
rs776896550
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		CT 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs758175953
rs758175953
FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene]. 19457309

2009
dbSNP: rs80357868
rs80357868
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients]. 12947551

2003
dbSNP: rs786202791
rs786202791
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR [Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia]. 12060539

2002