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 |
|---|---|---|---|
| RS1010980331 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1025567379 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1040675580 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1050188504 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502374 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1060504593 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1064793127 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS117436649 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome |
| RS1180118315 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS1198336361 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Colorectal cancer, Birt-Hogg-Dube syndrome 1 |
| RS1200932753 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, See cases, Birt-Hogg-Dube syndrome 1 |
| RS1206559440 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1207963576 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Colorectal cancer |
| RS1226366288 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1260972155 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS1261069493 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1278501001 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1314645884 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1327357566 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1327627870 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1347669124 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS1372666497 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS1380029891 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, FLCN-related disorder, Hereditary cancer-predisposing syndrome |
| RS138031155 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS138070947 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS139418842 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS1397579538 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS140246224 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1407566775 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, 17p11.2 microduplication syndrome |
| RS141140415 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS141250189 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS141303532 | Health Risk | Conflicting classifications of pathogenicity | FLCN-related disorder, FLCN-related disorder |
| RS142288285 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS142934950 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS1431737113 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS143183215 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS143525924 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS144883828 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1448942524 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS145430714 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome |
| RS1460258176 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1466102804 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1470514558 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS147164515 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Carcinoma of colon, Familial spontaneous pneumothorax |
| RS148257120 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS150051278 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS150439088 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS150712346 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS150752548 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS151144873 | Health Risk | Conflicting classifications of pathogenicity | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |