Gene: NF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760703505
rs760703505
NF1
0.710 GeneticVariation BEFREE A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1. 31189769

2019
dbSNP: rs1801052
rs1801052
NF1
0.010 GeneticVariation BEFREE We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia. 31048186

2019
dbSNP: rs199474750
rs199474750
NF1
0.810 GeneticVariation BEFREE Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. 29804243

2018
dbSNP: rs137854566
rs137854566
NF1
G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs1060500368
rs1060500368
NF1
C 0.710 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs1060500254
rs1060500254
NF1
C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs1555534966
rs1555534966
NF1
G 0.700 CausalMutation CLINVAR Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. 29673180

2018
dbSNP: rs1555614229
rs1555614229
NF1
A 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs771820789
rs771820789
NF1
A 0.700 CausalMutation CLINVAR Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 29449315

2018
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1064794274
rs1064794274
NF1
G 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1135402850
rs1135402850
NF1
G 0.700 CausalMutation CLINVAR Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. 28961165

2017
dbSNP: rs1187097568
rs1187097568
NF1
G 0.700 CausalMutation CLINVAR Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. 28706617

2017
dbSNP: rs1555606053
rs1555606053
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs1555612288
rs1555612288
NF1
G 0.700 CausalMutation CLINVAR Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes. 28529006

2017
dbSNP: rs1567615941
rs1567615941
NF1
T 0.700 CausalMutation CLINVAR The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. 28068329

2017
dbSNP: rs397514641
rs397514641
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs786201367
rs786201367
NF1
T 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs786201874
rs786201874
NF1
C 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs876657715
rs876657715
NF1
TA 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs137854550
rs137854550
NF1
G 0.800 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: rs137854554
rs137854554
NF1
T 0.800 GeneticVariation 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: rs137854556
rs137854556
NF1
C 0.800 CausalMutation CLINVAR Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. 26635368

2016
dbSNP: rs137854556
rs137854556
NF1
A 0.800 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