FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502367
rs1060502367
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060502368
rs1060502368
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs1060502368
rs1060502368
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		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
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060502370
rs1060502370
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060502371
rs1060502371
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1064792959
rs1064792959
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CTGAT 0.700 CausalMutation CLINVAR
dbSNP: rs1064792959
rs1064792959
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		CTGAT 0.700 CausalMutation CLINVAR
dbSNP: rs1131690824
rs1131690824
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131690825
rs1131690825
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131690826
rs1131690826
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X. 22068306 2012
dbSNP: rs1131690826
rs1131690826
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 18579543 2008
dbSNP: rs1131690830
rs1131690830
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 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: rs1131690832
rs1131690832
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report. 29720200 2018
dbSNP: rs1131690832
rs1131690832
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs1131690832
rs1131690832
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs1131690836
rs1131690836
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131690838
rs1131690838
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. 19785621 2010
dbSNP: rs1131690838
rs1131690838
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 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
dbSNP: rs1131690838
rs1131690838
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation. 27780965 2016
dbSNP: rs1131690839
rs1131690839
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1131690840
rs1131690840
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. 17611575 2008
dbSNP: rs1131690840
rs1131690840
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		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
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1254608489
rs1254608489
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR