|
rs1351350515
|
|
Neurofibromatosis 2
|
|
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 |
|
rs121434261
|
|
Neurofibromatosis 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs74315494
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs74315493
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs74315492
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1555993336
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.
|
27704245 |
2016 |
|
rs1555986860
|
|
Neurofibromatosis 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.
|
27704245 |
2016 |
|
rs121434259
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
|
26073919 |
2018 |
|
rs74315504
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
|
26066488 |
2015 |
|
rs1555993345
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
|
26066488 |
2015 |
|
rs121434261
|
|
Neurofibromatosis 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs74315494
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs74315493
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs74315492
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs74315504
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Application of COLD-PCR for improved detection of NF2 mosaic mutations.
|
24815379 |
2014 |
|
rs1555993345
|
|
Neurofibromatosis 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Application of COLD-PCR for improved detection of NF2 mosaic mutations.
|
24815379 |
2014 |
|
rs121434261
|
|
Neurofibromatosis 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs74315494
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs74315493
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs74315492
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs1555986860
|
|
Neurofibromatosis 2
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas.
|
22295085 |
2012 |
|
rs121434261
|
|
Neurofibromatosis 2
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |
|
rs74315494
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |
|
rs74315493
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |
|
rs74315492
|
|
Neurofibromatosis 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
|
20445339 |
2010 |