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 |
|---|---|---|---|
| RS398124539 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS398124540 | Health Risk | Pathogenic | — |
| RS398124541 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS398124542 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax |
| RS561236067 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS587781952 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS587782069 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS750146811 | Health Risk | Pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS757111995 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS757197845 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS758175953 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |
| RS758385503 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, 17p11.2 microduplication syndrome, Birt-Hogg-Dube syndrome 1 |
| RS763591386 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS768734584 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS773946854 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS776896550 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS786202475 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS80338682 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome |
| RS864622651 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658390 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, FLCN-related disorder |
| RS876658409 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS878854341 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS878855212 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS878855213 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS878855217 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder |
| RS878855218 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS878855220 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS878855221 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255658 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255660 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS879255661 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255662 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome |
| RS879255663 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS879255666 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255667 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS879255668 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS879255669 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255670 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255672 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255673 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255675 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS879255676 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Mesothelioma |
| RS879255678 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS879255679 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS879255680 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255682 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS879255684 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS886037608 | Health Risk | Pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS886037609 | Health Risk | Pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS886037610 | Health Risk | Pathogenic | Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax |