| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. | 27664052 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel ATM mutations with ataxia-telangiectasia. | 26628246 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. | 19691550 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 |
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|
C | 0.700 | CausalMutation | 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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|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. | 12815592 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. | 10980530 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations associated with variant phenotypes in ataxia-telangiectasia. | 8755918 | 1996 |
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|
A | 0.700 | GeneticVariation | CLINVAR |