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 |
|---|---|---|---|
| RS778275358 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS778530618 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS778587763 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS778904029 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS779900587 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS780571501 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS781046590 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS786203348 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS78683075 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS876657646 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS876660119 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS878855219 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS879255664 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS879255665 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS898441209 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma |
| RS910566279 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS916844425 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS939223011 | Health Risk | Conflicting classifications of pathogenicity | Birt-Hogg-Dube syndrome, Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax |
| RS1060502369 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS1555607296 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555607929 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS1555608617 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1567813248 | Health Risk | Likely pathogenic | Pilocytic astrocytoma, Birt-Hogg-Dube syndrome, Pilocytic astrocytoma |
| RS1597574368 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS1597578776 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2046815679 | Health Risk | Likely pathogenic | — |
| RS2046884079 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2046947920 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2046948026 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144831005 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144870247 | Health Risk | Likely pathogenic | — |
| RS2144930944 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144981630 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS2145009900 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2145010446 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2145014205 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544143033 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544149417 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161258 | Health Risk | Likely pathogenic | FLCN-related disorder, FLCN-related disorder |
| RS2544172442 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544192943 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544231997 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544232331 | Health Risk | Likely pathogenic | — |
| RS2544236108 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1 |
| RS2544255967 | Health Risk | Likely pathogenic | — |
| RS2544284250 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544304367 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544313773 | Health Risk | Likely pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544314925 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544315366 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |