Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199643834
rs199643834
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
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
0.710 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013

dbSNP: rs1555607273
rs1555607273
T 0.700 CausalMutation CLINVAR Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum? 28869776

2018

dbSNP: rs1064793128
rs1064793128
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
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
T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017

dbSNP: rs786203218
rs786203218
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
A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743

2017

dbSNP: rs1064793128
rs1064793128
T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016

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

2016

dbSNP: rs398124542
rs398124542
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
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
A 0.700 CausalMutation CLINVAR An 18-year-old man with recurrent pneumothorax since he was 10-year-old. 27257988

2016

dbSNP: rs587782069
rs587782069
A 0.700 CausalMutation CLINVAR Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? 26603437

2016

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

2016

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

2016

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

2016

dbSNP: rs1064793128
rs1064793128
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
T 0.700 CausalMutation CLINVAR Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. 26334087

2015

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

2015

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

2015

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

2015