Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		0.710 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs1060502368
rs1060502368
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502370
rs1060502370
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502371
rs1060502371
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1064792959
rs1064792959
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		CTGAT 0.700 CausalMutation CLINVAR

dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. 27220747

2016
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		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: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		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: rs1064793128
rs1064793128
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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: rs1131690837
rs1131690837
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs1131690840
rs1131690840
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1254608489
rs1254608489
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1266098984
rs1266098984
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		C 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: rs137852929
rs137852929
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
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: rs137852929
rs137852929
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		C 0.700 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
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1490424623
rs1490424623
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		C 0.700 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
dbSNP: rs1555607179
rs1555607179
MPRIP ; FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		A 0.700 CausalMutation CLINVAR