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 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1064794276
rs1064794276
NF1
C 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 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
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 Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474

2016