| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. | 25572163 | 2015 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Clinical variability in ataxia-telangiectasia. | 25957637 | 2015 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | 25980754 | 2015 |
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|
C | 0.700 | GeneticVariation | CLINVAR | The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. | 25122203 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. | 22146522 | 2012 |
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|
C | 0.700 | GeneticVariation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Ataxia telangiectasia: the consequences of a delayed diagnosis. | 21354641 | 2011 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. | 21792198 | 2011 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Clinical spectrum of ataxia-telangiectasia in adulthood. | 19535770 | 2009 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. | 11805335 | 2002 |