| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. | 22146522 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. | 22146522 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. | 22649200 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. | 21681852 | 2011 |
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|
A | 0.700 | CausalMutation | 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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|
A | 0.700 | CausalMutation | CLINVAR | Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. | 21593342 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Activation of p53 transcriptional activity requires ATM's kinase domain and multiple N-terminal serine residues of p53. | 11526498 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | 9463314 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Predominance of null mutations in ataxia-telangiectasia. | 8845835 | 1996 |