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: 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: rs1060502369
rs1060502369
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1254608489
rs1254608489
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1266098984
rs1266098984
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555607179
rs1555607179
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555607212
rs1555607212
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567807238
rs1567807238
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567822638
rs1567822638
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs398124524
rs398124524
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: report of a new mutation. 22679611

2012
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: rs398124534
rs398124534
FLCN
A 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005
dbSNP: rs398124534
rs398124534
FLCN
A 0.700 CausalMutation 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: rs398124536
rs398124536
FLCN
A 0.700 CausalMutation 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: rs558699420
rs558699420
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782069
rs587782069
FLCN
A 0.700 CausalMutation CLINVAR Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome. 27652079

2016
dbSNP: rs587782069
rs587782069
FLCN
A 0.700 CausalMutation CLINVAR An 18-year-old man with recurrent pneumothorax since he was 10-year-old. 27257988

2016
dbSNP: rs587782069
rs587782069
FLCN
A 0.700 CausalMutation CLINVAR A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. 23264078

2013
dbSNP: rs587782069
rs587782069
FLCN
A 0.700 CausalMutation CLINVAR Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? 26603437

2016