Gene: FLCN ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Possible familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: A possible link between these two disease entities. 26028485

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Perifollicular fibromas associated with Birt-Hogg-Dubé syndrome. 26387484

2015
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Genetic analysis of familial spontaneous pneumothorax in an Indian family. 25827758

2015
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. 25594584

2015
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. 24994497

2014
dbSNP: rs864622651
rs864622651
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome. 23848572

2014
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
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 Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome. 24190151

2013
dbSNP: rs776896550
rs776896550
FLCN
CT 0.700 CausalMutation CLINVAR Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. 23386036

2013
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
TG 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome is a novel ciliopathy. 23784378

2013
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR When the chest is clueless, look downstairs. 23741947

2013
dbSNP: rs1131690826
rs1131690826
FLCN
T 0.700 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306

2012
dbSNP: rs398124524
rs398124524
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: report of a new mutation. 22679611

2012
dbSNP: rs758175953
rs758175953
FLCN
A 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs776896550
rs776896550
FLCN
CT 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. 22571569

2012
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited. 22725638

2012
dbSNP: rs878855217
rs878855217
FLCN
T 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome: an update]. 21937013

2012
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: rs398124542
rs398124542
FLCN
CTTCTGTACTCTCTGGCAACACAGGGGCT 0.700 CausalMutation CLINVAR Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011. 21506000

2011
dbSNP: rs776896550
rs776896550
FLCN
CT 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs786203218
rs786203218
FLCN
T 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