Gene: FLCN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
0.710 GeneticVariation BEFREE Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. 28007907

2017
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
0.710 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
0.710 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs1060502369
rs1060502369
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398124528
rs398124528
MPRIP ; FLCN
C 0.700 GeneticVariation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs398124529
rs398124529
MPRIP ; FLCN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR Identification and characterization of a novel folliculin-interacting protein FNIP2. 18403135

2008
dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010
dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. 22977732

2012
dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. 18663353

2008
dbSNP: rs398124532
rs398124532
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. 17028174

2006
dbSNP: rs727504645
rs727504645
FLCN
G 0.700 GeneticVariation CLINVAR Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. 12204536

2002
dbSNP: rs755959303
rs755959303
MPRIP ; FLCN
T 0.700 GeneticVariation CLINVAR BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 18234728

2008
dbSNP: rs755959303
rs755959303
MPRIP ; FLCN
T 0.700 GeneticVariation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs755959303
rs755959303
MPRIP ; FLCN
T 0.700 GeneticVariation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891

2016
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs786203218
rs786203218
FLCN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs876657646
rs876657646
FLCN
G 0.700 GeneticVariation CLINVAR Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene. 23414156

2013
dbSNP: rs878855214
rs878855214
MPRIP ; FLCN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878855218
rs878855218
FLCN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878855218
rs878855218
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs879255681
rs879255681
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs879255664
rs879255664
FLCN
0.010 GeneticVariation BEFREE Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. 28007907

2017
dbSNP: rs1060502368
rs1060502368
FLCN
C 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005