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: rs199643834
rs199643834
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		0.710 GeneticVariation BEFREE Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. 28007907 2017
dbSNP: rs199643834
rs199643834
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		0.710 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs199643834
rs199643834
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		0.710 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509 2013
dbSNP: rs80338682
rs80338682
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. 26581862 2019
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: rs1555607273
rs1555607273
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776 2018
dbSNP: rs587782069
rs587782069
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776 2018
dbSNP: rs80338682
rs80338682
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776 2018
dbSNP: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. 28499369 2017
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. 28499369 2017
dbSNP: rs767671406
rs767671406
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835 2017
dbSNP: rs786202541
rs786202541
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans. 28151982 2017
dbSNP: rs786203218
rs786203218
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs80338682
rs80338682
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835 2017
dbSNP: rs80338682
rs80338682
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835 2017
dbSNP: rs80338682
rs80338682
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs879255678
rs879255678
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743 2017
dbSNP: rs879255678
rs879255678
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743 2017
dbSNP: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747 2016
dbSNP: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747 2016
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: rs398124541
rs398124541
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
dbSNP: rs398124541
rs398124541
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs398124541
rs398124541
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease:
Multiple fibrofolliculomas 		G 0.700 CausalMutation CLINVAR Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex. 27643397 2016