Gene: FLCN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555607273
rs1555607273
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018
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: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. 28499369

2017
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743

2017
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: rs398124541
rs398124541
FLCN
G 0.700 CausalMutation CLINVAR Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. 27643397

2016
dbSNP: rs398124541
rs398124541
FLCN
G 0.700 CausalMutation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891

2016
dbSNP: rs398124541
rs398124541
FLCN
G 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy. 27470329

2016
dbSNP: rs398124542
rs398124542
FLCN
CTTCTGTACTCTCTGGCAACACAGGGGCT 0.700 CausalMutation CLINVAR Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. 26402642

2016
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 Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? 26603437

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: rs755959303
rs755959303
MPRIP ; FLCN
T 0.700 GeneticVariation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891

2016
dbSNP: rs786203218
rs786203218
FLCN
T 0.700 CausalMutation CLINVAR Familial pneumothoraces: Birt-Hogg-Dubé syndrome. 27906882

2016
dbSNP: rs878855213
rs878855213
MPRIP ; FLCN
C 0.700 CausalMutation CLINVAR Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. 27642565

2016
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: rs398124530
rs398124530
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087

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

2015
dbSNP: rs879255679
rs879255679
MPRIP ; FLCN
CACAG 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087

2015
dbSNP: rs879255683
rs879255683
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087

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

2014