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: rs1010980331
rs1010980331
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE Furthermore, in three families we found three different variants in BAP1, one of which was a novel non-segregating missense variant (c.1502G>A, p.Ser501Asn) in a family with two brothers affected with RCC. 31034483 2019
dbSNP: rs1010980331
rs1010980331
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE Furthermore, in three families we found three different variants in BAP1, one of which was a novel non-segregating missense variant (c.1502G>A, p.Ser501Asn) in a family with two brothers affected with RCC. 31034483 2019
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: rs1060502375
rs1060502375
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn). 25873077 2015
dbSNP: rs1060502375
rs1060502375
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C2826323
Disease:
Refractory Cytopenia of Childhood 		0.010 GeneticVariation BEFREE Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn). 25873077 2015
dbSNP: rs1060502375
rs1060502375
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn). 25873077 2015
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: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;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: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
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: 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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;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: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0346010
Disease:
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
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: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;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: rs1064793128
rs1064793128
Entrez Id: 23164;201163
Gene Symbol: MPRIP;FLCN
MPRIP;FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs1131690824
rs1131690824
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR