Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. 27734835

2017
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
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
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. 24994497

2014
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome. 24190151

2013
dbSNP: rs767671406
rs767671406
MPRIP ; FLCN
T 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: rs767671406
rs767671406
MPRIP ; FLCN
T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 19802896

2010