Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315495
rs74315495
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315496
rs74315496
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315497
rs74315497
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315499
rs74315499
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315501
rs74315501
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315503
rs74315503
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315505
rs74315505
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs766974263
rs766974263
NF2
0.700 GeneticVariation UNIPROT

dbSNP: rs780872661
rs780872661
NF2
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853925
rs878853925
NF2
T 0.700 CausalMutation CLINVAR

dbSNP: rs917257652
rs917257652
NF2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121434261
rs121434261
NF2
0.810 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs74315492
rs74315492
NF2
0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs74315493
rs74315493
NF2
0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs74315494
rs74315494
NF2
0.800 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs764441073
rs764441073
NF2
0.700 GeneticVariation UNIPROT A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958

1996

dbSNP: rs1555993336
rs1555993336
NF2
T 0.700 CausalMutation CLINVAR A point mutation associated with a severe phenotype of neurofibromatosis 2. 8797533

1996

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: 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