rs199643834
MPRIP;FLCN
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
rs199643834
MPRIP;FLCN
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
rs199643834
MPRIP;FLCN
Multiple fibrofolliculomas
0.710
GeneticVariation
UNIPROT
Canadian guideline on genetic screening for hereditary renal cell cancers.
24319509
2013
rs80338682
MPRIP;FLCN
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
26581862
2019
rs1131690832
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
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
rs1555607273
MPRIP;FLCN
Multiple fibrofolliculomas
T
0.700
CausalMutation
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776
2018
rs587782069
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776
2018
rs80338682
MPRIP;FLCN
Neoplastic Syndromes, Hereditary
TG
0.700
CausalMutation
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776
2018
rs1064793128
MPRIP;FLCN
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
rs767671406
MPRIP;FLCN
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
rs767671406
MPRIP;FLCN
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
rs767671406
MPRIP;FLCN
Multiple fibrofolliculomas
T
0.700
CausalMutation
CLINVAR
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
27734835
2017
rs786202541
MPRIP;FLCN
Neoplastic Syndromes, Hereditary
C
0.700
CausalMutation
CLINVAR
Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.
28151982
2017
rs786203218
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
Multiple fibrofolliculomas
T
0.700
CausalMutation
CLINVAR
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
28724667
2017
rs80338682
MPRIP;FLCN
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
rs80338682
MPRIP;FLCN
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
rs80338682
MPRIP;FLCN
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
rs879255678
MPRIP;FLCN
Multiple fibrofolliculomas
A
0.700
CausalMutation
CLINVAR
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
28558743
2017
rs879255678
MPRIP;FLCN
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
28558743
2017
rs1064793128
MPRIP;FLCN
Neoplastic Syndromes, Hereditary
T
0.700
CausalMutation
CLINVAR
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
27220747
2016
rs1064793128
MPRIP;FLCN
Multiple fibrofolliculomas
T
0.700
CausalMutation
CLINVAR
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
27220747
2016
rs1131690838
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
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
rs398124541
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
Neoplastic Syndromes, Hereditary
G
0.700
CausalMutation
CLINVAR
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
27356891
2016
rs398124541
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
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
rs398124541
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
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