| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
GC | 0.700 | GeneticVariation | CLINVAR | RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. | 26635394 | 2016 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. | 25122203 | 2014 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Cognitive phenotype in ataxia-telangiectasia. | 25037873 | 2014 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | 22213089 | 2012 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | 22213089 | 2012 |
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|
GC | 0.700 | CausalMutation | CLINVAR | Clinical spectrum of ataxia-telangiectasia in adulthood. | 19535770 | 2009 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. | 15054841 | 2004 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. | 10980530 | 2000 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. | 10873394 | 2000 |
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|
GC | 0.700 | CausalMutation | CLINVAR | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 |
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|
GC | 0.700 | GeneticVariation | CLINVAR | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 |