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 |
|---|---|---|---|
| RS1567807238 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567807684 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567808098 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567809782 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1567816285 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1567819544 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567819834 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567822638 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597574088 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1597578868 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1597580340 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597591875 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1597592246 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1597606551 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597607423 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1597612985 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597613070 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1597617148 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1597617757 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597618627 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pneumothorax - familial, Hereditary cancer-predisposing syndrome |
| RS2046823775 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2046866025 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2046877798 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2046880504 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS2046950183 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047006361 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047014823 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047092163 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047123162 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047172274 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047175695 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047181267 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS2047242821 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2047248214 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2047302808 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144810189 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144832772 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144839089 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144839279 | Health Risk | Pathogenic | — |
| RS2144840088 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144857383 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144858986 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS2144869206 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144869487 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144869904 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144870598 | Health Risk | Pathogenic | — |
| RS2144894376 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144894415 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1 |
| RS2144895051 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144897537 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |