×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Parotid oncocytoma in the Birt-Hogg-Dubé syndrome.
11100034 2000
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
12471204 2002
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
15657874 2005
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
15805188 2005
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
15852235 2005
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome.
17034545 2006
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
17124507 2007
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
17611575 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
18505456 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene.
18573707 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
18579543 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
18794106 2008
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
19785621 2010
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
19802896 2010
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
20618353 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.
21401403 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
21506000 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
21538689 2011
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
[Birt-Hogg-Dubé syndrome: an update].
21937013 2012
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.
22068306 2012