Gene: NF1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749

2007
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468

2010
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2013
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953

2012
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006

2008