rs199474750
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
|
23244495 |
2012 |
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 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes.
|
8264648 |
1994 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
|
16786508 |
2006 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
|
11857752 |
2002 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
9003501 |
1997 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
|
22155606 |
2011 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Somatic mutations in the neurofibromatosis 1 gene in human tumors.
|
1568247 |
1992 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs137854550
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
|
14722917 |
2004 |
rs137854550
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137854551
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137854553
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137854554
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137854556
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras.
|
9302992 |
1997 |
rs137854556
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
|
15060124 |
2004 |
rs137854556
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |
rs137854556
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
|
23047742 |
2013 |
rs137854556
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
|
10712197 |
2000 |
rs137854556
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.
|
16513807 |
2006 |
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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
|
19221814 |
2009 |
rs137854556
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.
|
22807134 |
2012 |