| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation. | 24935205 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. | 26439923 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial. | 24405665 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. | 23454770 | 2013 |
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T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. | 22527104 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. | 19691550 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. | 18431795 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. | 17910737 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. | 10425038 | 1999 |