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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs199474760
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
|
27074763 |
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 |
rs199474743
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
|
26056819 |
2015 |
rs199474746
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
|
26478990 |
2015 |
rs199474747
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
|
26478990 |
2015 |
rs199474748
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.
|
25211147 |
2015 |