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 |
|---|---|---|---|
| RS151312899 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS1555606300 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1555609798 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1597578831 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome |
| RS1597591391 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1708629 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, FLCN-related disorder |
| RS1736209 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma |
| RS184006653 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome |
| RS190786280 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, 17p11.2 microduplication syndrome |
| RS190965235 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS199643834 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS199786696 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Colorectal cancer |
| RS199889477 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, 17p11.2 microduplication syndrome |
| RS200103733 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome |
| RS200168437 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS200660337 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS200693409 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS200724468 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS200771620 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS200823760 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS201056799 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS201078144 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS201898226 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Colorectal cancer, Familial spontaneous pneumothorax |
| RS202215080 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS202217257 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, 17p11.2 microduplication syndrome |
| RS2046824297 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2046952880 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2047011004 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2047088558 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2047092959 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma |
| RS2047122813 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, FLCN-related disorder, Birt-Hogg-Dube syndrome |
| RS2047176639 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS2047178513 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047310284 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144840565 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Ovarian cancer |
| RS2144894596 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2145009956 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2145012002 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2145043248 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544121194 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544126650 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544218927 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Nonpapillary renal cell carcinoma |
| RS2544232040 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544232260 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Birt-Hogg-Dube syndrome, Ovarian cancer |
| RS367843558 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS368880414 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS369115472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS370353839 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS371401039 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS372207262 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |