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 |
|---|---|---|---|
| RS372304384 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS374969279 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS375082054 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, 17p11.2 microduplication syndrome |
| RS375348725 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS375352888 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS375642836 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS376715412 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS376825814 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS377468280 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS398124531 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS398124532 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS398124536 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS41419545 | Health Risk | Conflicting classifications of pathogenicity | Carcinoma of colon, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS41464156 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS528541881 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS535236784 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS536249722 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS539468848 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS553673947 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma, Colorectal cancer |
| RS554247745 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS556510460 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, 17p11.2 microduplication syndrome |
| RS557336321 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS558365108 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS558699420 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS559055296 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS565447853 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS567617762 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS571154058 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS587778367 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS745645385 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Colorectal cancer |
| RS746264578 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS746507528 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS747467294 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS747644007 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS747675386 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS747922795 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Colorectal cancer, Familial spontaneous pneumothorax |
| RS748363919 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS748857550 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome 1 |
| RS748878853 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Carcinoma of colon, Nonpapillary renal cell carcinoma |
| RS749359334 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS749758787 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS749770193 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS750104212 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS750221380 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS750394475 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS750535468 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS752006809 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS752170592 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS752730139 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS752746072 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |