Gene: FLCN ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Birt-hogg-dubé syndrome, a rare case in Korea confirmed by genetic analysis. 22148048

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. 21538689

2011
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome. 21401403

2011
dbSNP: rs879255677
rs879255677
MPRIP ; FLCN
TGCGGCTGCGTGGACCTC 0.700 CausalMutation CLINVAR Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011. 21506000

2011
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs1131690838
rs1131690838
FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. 19785621

2010
dbSNP: rs398124541
rs398124541
FLCN
G 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. 19785621

2010
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 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: rs776896550
rs776896550
FLCN
CT 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010
dbSNP: rs878855217
rs878855217
FLCN
T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
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: rs1064793128
rs1064793128
MPRIP ; FLCN
T 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: rs1131690826
rs1131690826
FLCN
T 0.700 CausalMutation CLINVAR Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543

2008
dbSNP: rs1131690832
rs1131690832
FLCN
T 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: rs1131690840
rs1131690840
FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. 17611575

2008
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
T 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: rs137852929
rs137852929
MPRIP ; FLCN
C 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: rs398124533
rs398124533
FLCN
C 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 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: 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: 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