Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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CA | 0.700 | GeneticVariation | CLINVAR | Novel ATM mutations with ataxia-telangiectasia. | 26628246 | 2016 |
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CA | 0.700 | GeneticVariation | CLINVAR | Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition. | 26246601 | 2015 |
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CA | 0.700 | GeneticVariation | CLINVAR | Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. | 26270727 | 2015 |
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CA | 0.700 | GeneticVariation | CLINVAR | NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK). | 23671275 | 2013 |
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CA | 0.700 | GeneticVariation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 |
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CA | 0.700 | GeneticVariation | CLINVAR | Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. | 19691550 | 2009 |
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CA | 0.700 | GeneticVariation | CLINVAR | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 |
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CA | 0.700 | GeneticVariation | CLINVAR | Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. | 18560558 | 2008 |
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CA | 0.700 | GeneticVariation | CLINVAR | The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. | 16603769 | 2006 |
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CA | 0.700 | GeneticVariation | CLINVAR | Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. | 15039971 | 2004 |
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CA | 0.700 | GeneticVariation | CLINVAR | Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. | 10980530 | 2000 |
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CA | 0.700 | GeneticVariation | CLINVAR | Mutations associated with variant phenotypes in ataxia-telangiectasia. | 8755918 | 1996 |