rs121434261
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes.
|
8757035 |
1996 |
rs1351350515
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction (four mRNA mutation cytoband coordinates for nucleotide change: c.634C>T/p.Q212, c.655G>A/p.V219M, c.784C>T/p.R262 and c.1228C>T/p.Q410).
|
31024808 |
2019 |
rs1378623195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction (four mRNA mutation cytoband coordinates for nucleotide change: c.634C>T/p.Q212, c.655G>A/p.V219M, c.784C>T/p.R262 and c.1228C>T/p.Q410).
|
31024808 |
2019 |
rs587776932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, confirming the diagnosis of PIK3CA-related overgrowth, but no mutations in NF2 were detected.
|
28737257 |
2018 |
rs121434261
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs74315492
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315493
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs74315494
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1060503666
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060503667
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060503670
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121434259
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.
|
8379998 |
1993 |
rs121434259
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular characterization of germline mutations in neurofibromatosis 2 in two families.
|
9884492 |
1998 |
rs121434259
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Phenotype-genotype study in 154 French NF2 mutation carriers].
|
18033041 |
2007 |
rs121434259
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.
|
8882871 |
1996 |
rs121434259
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
|
26073919 |
2018 |
rs121434260
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555978356
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555978369
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555986860
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.
|
22295085 |
2012 |
rs1555986860
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.
|
27704245 |
2016 |
rs1555986860
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
|
9643284 |
1998 |
rs1555987647
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555987732
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555992948
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|