FLCN Chromosome 17
Folliculin
Upload your DNA to see your personal genotypes for variants in FLCN.
What This Gene Does
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000154803
Associated Conditions (28)
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma
FLCN-related disorder
See cases
Ovarian cancer
Carcinoma of colon
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Colon adenocarcinoma
Pneumothorax - familial
Pilocytic astrocytoma
Chromophobe renal cell carcinoma
+8 more conditions
Key Variants
RS1010980331
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS1025567379
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
Health Risk
RS1040675580
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer
Health Risk
RS1050188504
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060502374
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS1060504593
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
Health Risk
RS1064793127
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS117436649
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
Health Risk
RS1180118315
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder
Health Risk
RS1198336361
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, Birt-Hogg-Dube syndrome 1
Health Risk
RS1200932753
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, See cases, Birt-Hogg-Dube syndrome 1
Health Risk
RS1206559440
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (552)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753491072 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS753648691 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS753685944 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS753948488 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS755107067 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS756787389 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS756944795 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS757012294 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS757060348 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS757313788 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS759292330 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS759405317 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS759637055 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS759743111 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS759930161 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS760079073 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS760329266 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Colorectal cancer |
| RS760556162 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS760690745 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax, Colorectal cancer |
| RS760808366 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS762370059 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS763241810 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome 1 |
| RS763604691 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS764899882 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS765550303 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS765628527 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS766218250 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS766401197 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS766548696 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS766801011 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS766990565 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS767459304 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS767714543 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS769250170 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, 17p11.2 microduplication syndrome |
| RS769489773 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS770077517 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS770396757 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS770795599 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome 1 |
| RS771847652 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS773197802 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS774358971 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, 17p11.2 microduplication syndrome |
| RS774491699 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS775107483 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS775149348 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS775700421 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS776389684 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS777103374 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS777113065 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS777456756 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS777826268 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |