Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. | 8379998 | 1993 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular characterization of germline mutations in neurofibromatosis 2 in two families. | 9884492 | 1998 |
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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 | Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. | 8882871 | 1996 |
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|
T | 0.700 | CausalMutation | CLINVAR | Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. | 26073919 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. | 22295085 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. | 27704245 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. | 9643284 | 1998 |
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|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |