rs199643834
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined.
|
28007907 |
2017 |
rs199643834
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
rs199643834
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs1555607273
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
|
28869776 |
2018 |
rs1064793128
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.
|
28009417 |
2017 |
rs767671406
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
|
28499369 |
2017 |
rs767671406
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
|
27734835 |
2017 |
rs786203218
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
rs879255678
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
|
28558743 |
2017 |
rs1064793128
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
|
27220747 |
2016 |
rs398124541
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.
|
27643397 |
2016 |
rs398124541
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.
|
27470329 |
2016 |
rs398124541
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
|
27356891 |
2016 |
rs398124542
|
|
CTTCTGTACTCTCTGGCAACACAGGGGCT |
0.700 |
CausalMutation |
CLINVAR |
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.
|
26402642 |
2016 |
rs587782069
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
|
27652079 |
2016 |
rs587782069
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
|
27257988 |
2016 |
rs587782069
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
|
26603437 |
2016 |
rs755959303
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
|
27356891 |
2016 |
rs786203218
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial pneumothoraces: Birt-Hogg-Dubé syndrome.
|
27906882 |
2016 |
rs878855213
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.
|
27642565 |
2016 |
rs1064793128
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman.
|
26943385 |
2015 |
rs398124530
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
|
26334087 |
2015 |
rs80338682
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of familial spontaneous pneumothorax in an Indian family.
|
25827758 |
2015 |
rs879255679
|
|
CACAG |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
|
26334087 |
2015 |
rs879255683
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
|
26334087 |
2015 |