rs199474750
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs199474750
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|
rs137854566
|
|
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 |
rs199474747
|
|
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 |
rs199474743
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
|
27838393 |
2017 |
rs137854550
|
|
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 |
rs137854554
|
|
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 |
rs137854556
|
|
C |
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 |
rs137854556
|
|
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 |
rs137854556
|
|
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 |
rs137854566
|
|
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 |
rs199474732
|
|
T |
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 |
rs199474732
|
|
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 |
rs199474732
|
|
T |
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 |
rs199474732
|
|
G |
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 |
rs199474745
|
|
C |
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 |
rs199474747
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.
|
27999334 |
2016 |
rs199474756
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Immortalization of human normal and NF1 neurofibroma Schwann cells.
|
27617404 |
2016 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
|
27074763 |
2016 |
rs199474760
|
|
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 |
rs199474761
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.
|
26331193 |
2016 |
rs199474785
|
|
T |
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 |
rs137854556
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
|
24951259 |
2015 |
rs199474742
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
|
26056819 |
2015 |
rs199474743
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.
|
25480383 |
2015 |