Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs1064794276
rs1064794276
NF1
C 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: 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 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 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
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: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs1555534380
rs1555534380
NF1
A 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: rs1555535052
rs1555535052
NF1
TTA 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: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1064794276
rs1064794276
NF1
C 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 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 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
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: 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 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 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014