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 |
|---|---|---|---|
| RS398124528 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS727504645 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS755959303 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS771205573 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS878854340 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS1057518147 | Health Risk | Pathogenic | — |
| RS1057520528 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502367 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502368 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1060502370 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1060502371 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1064792959 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1064793128 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1064793766 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1085307771 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690824 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690825 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690826 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1131690828 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690829 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690830 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690831 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690832 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690835 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS1131690836 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690837 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1131690840 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS1135401752 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1185698194 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1225988242 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS137852930 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1414696397 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1439151268 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1456509027 | Health Risk | Pathogenic | — |
| RS1471793185 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1490424623 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1555607179 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555607212 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555607273 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555607640 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1555607651 | Health Risk | Pathogenic | — |
| RS1555607960 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1555608515 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555608552 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555608611 | Health Risk | Pathogenic | — |
| RS1555608614 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555609514 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS1555609899 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1555611377 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1555611438 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |