Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome. 28558743

2017
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. 24393238

2014
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 20618353

2011
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene]. 19457309

2009
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
A 0.700 CausalMutation CLINVAR Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 15852235

2005