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 |
|---|---|---|---|
| RS2544195992 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544196484 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544196508 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544196807 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544197060 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544219177 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544219637 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544219810 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544221037 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544231720 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544232305 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544234013 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544234869 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544250633 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544250959 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544251913 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544251980 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544254219 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544254526 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544258497 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544258719 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544258787 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544258886 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544280687 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1 |
| RS2544280718 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544281896 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544282524 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544283357 | Health Risk | Pathogenic | — |
| RS2544284170 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544284444 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544307013 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544307146 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544307799 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544308289 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544309625 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544311138 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544311791 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544312335 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544312685 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544314814 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544315808 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS368778627 | Health Risk | Pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS372918705 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS398124523 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS398124524 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS398124526 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS398124527 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS398124534 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS398124535 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS398124538 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |