Gene: NF1 ×
Source: CLINVAR ×
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 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 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 Increased risk of breast cancer in women with NF1. 23165953

2012
dbSNP: rs137854562
rs137854562
NF1
T 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: rs137854562
rs137854562
NF1
T 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 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012
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 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 Increased risk of breast cancer in women with NF1. 23165953

2012
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011
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 Legius syndrome in fourteen families. 21089071

2011
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: rs1555533842
rs1555533842
NF1
GC 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 Neurofibromatosis type 1 revisited. 19117870

2009
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009
dbSNP: rs137854562
rs137854562
NF1
T 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 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009
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
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: 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 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. 17369502

2007