Gene: NF1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495

2012
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953

2012
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006

2008
dbSNP: rs1555533842
rs1555533842
NF1
GC 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: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 26178382

2015
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006
dbSNP: rs1555533842
rs1555533842
NF1
GC 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: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749

2007
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. 17369502

2007
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
dbSNP: rs1555533842
rs1555533842
NF1
GC 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: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468

2010
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011