Gene: FLCN ×
Source: ALL
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: 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: rs1064793128
rs1064793128
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman. 26943385

2015
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report. 28009417

2017
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016
dbSNP: rs1064793128
rs1064793128
MPRIP ; 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: rs1131690837
rs1131690837
MPRIP ; FLCN
TA 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: rs1266098984
rs1266098984
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852929
rs137852929
MPRIP ; 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: 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: rs137852929
rs137852929
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
C 0.700 CausalMutation 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: 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: rs1555607179
rs1555607179
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555607212
rs1555607212
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555607273
rs1555607273
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. 25519458

2014
dbSNP: rs1555607273
rs1555607273
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018