Gene: NF2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1351350515
rs1351350515
NF2
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
dbSNP: rs121434261
rs121434261
NF2
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
dbSNP: rs74315492
rs74315492
NF2
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
dbSNP: rs74315493
rs74315493
NF2
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
dbSNP: rs74315494
rs74315494
NF2
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
dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 27704245

2016
dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 27704245

2016
dbSNP: rs121434259
rs121434259
NF2
T 0.700 CausalMutation CLINVAR Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. 26073919

2018
dbSNP: rs1555993345
rs1555993345
NF2
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
dbSNP: rs74315504
rs74315504
NF2
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
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs1555993345
rs1555993345
NF2
T 0.700 CausalMutation CLINVAR Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379

2014
dbSNP: rs74315504
rs74315504
NF2
T 0.700 CausalMutation CLINVAR Application of COLD-PCR for improved detection of NF2 mosaic mutations. 24815379

2014
dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs1555986860
rs1555986860
NF2
A 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. 22295085

2012
dbSNP: rs121434261
rs121434261
NF2
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
dbSNP: rs74315492
rs74315492
NF2
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
dbSNP: rs74315493
rs74315493
NF2
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
dbSNP: rs74315494
rs74315494
NF2
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