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 |
|---|---|---|---|
| RS886039369 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS886039370 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS886039371 | Health Risk | Pathogenic | Colorectal cancer, Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax |
| RS886041478 | Health Risk | Pathogenic | — |
| RS886042033 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS932256543 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1057518043 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1085307478 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1131690827 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690833 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS1131690838 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690839 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma, Birt-Hogg-Dube syndrome 1 |
| RS1131690841 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS1254608489 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1266098984 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS137852929 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS1555610290 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1555611494 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS1567807517 | Health Risk | Pathogenic/Likely pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1567816339 | Health Risk | Pathogenic/Likely pathogenic | Hereditary renal cancer, Birt-Hogg-Dube syndrome, Hereditary renal cancer |
| RS1597579055 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597618162 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2047316806 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS2144810362 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144871276 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144896021 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS2145050572 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544124546 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544148969 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544163066 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544172290 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1 |
| RS2544193402 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544221196 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544250574 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Pneumothorax - familial |
| RS398124525 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS398124529 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, FLCN-related disorder, Hereditary cancer-predisposing syndrome |
| RS398124530 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS398124533 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS748148728 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS753009073 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS754616167 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS767671406 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS786202081 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS786202541 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS786203218 | Health Risk | Pathogenic/Likely pathogenic | Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS876660611 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS876660810 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS878855214 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS879255677 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS879255681 | Health Risk | Pathogenic/Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |