| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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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 |
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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 |
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C | 0.810 | CausalMutation | CLINVAR | ||||||||||
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C | 0.800 | CausalMutation | CLINVAR | ||||||||||
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C | 0.800 | CausalMutation | CLINVAR | ||||||||||
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C | 0.800 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of patients with neurofibromatosis 2. | 7913580 | 1994 |
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T | 0.700 | CausalMutation | CLINVAR | [Phenotype-genotype study in 154 French NF2 mutation carriers]. | 18033041 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. | 18766994 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Exon scanning for mutation of the NF2 gene in schwannomas. | 8012353 | 1994 |
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T | 0.700 | CausalMutation | CLINVAR | Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. | 12566519 | 2003 |
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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 |
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T | 0.700 | CausalMutation | CLINVAR | Application of COLD-PCR for improved detection of NF2 mosaic mutations. | 24815379 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. | 8755919 | 1996 |