Gene: FLCN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs1060502369
rs1060502369
FLCN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502370
rs1060502370
FLCN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502371
rs1060502371
FLCN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064792959
rs1064792959
FLCN
CTGAT 0.700 CausalMutation CLINVAR

dbSNP: rs1131690840
rs1131690840
FLCN
T 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: rs1135401752
rs1135401752
FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1254608489
rs1254608489
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1490424623
rs1490424623
FLCN
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. 20413710

2010
dbSNP: rs1555608515
rs1555608515
FLCN
T 0.700 CausalMutation CLINVAR Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. 24393238

2014
dbSNP: rs1555608552
rs1555608552
FLCN
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1555608614
rs1555608614
FLCN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567816285
rs1567816285
FLCN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1567819834
rs1567819834
FLCN
T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1567822638
rs1567822638
FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs368778627
rs368778627
FLCN
T 0.700 CausalMutation CLINVAR Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543

2008
dbSNP: rs368778627
rs368778627
FLCN
T 0.700 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306

2012
dbSNP: rs398124533
rs398124533
FLCN
C 0.700 CausalMutation CLINVAR

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: 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: rs398124535
rs398124535
FLCN
GTG 0.700 CausalMutation CLINVAR Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. 22146830

2011
dbSNP: rs398124535
rs398124535
FLCN
GTG 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: rs398124538
rs398124538
FLCN
TA 0.700 CausalMutation CLINVAR Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. 20522427

2010
dbSNP: rs398124541
rs398124541
FLCN
G 0.700 CausalMutation CLINVAR Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. 18794106

2008