| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Ataxia telangiectasia: more variation at clinical and cellular levels. | 25040471 | 2015 |
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|
G | 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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|
G | 0.700 | CausalMutation | CLINVAR | Transposable elements in disease-associated cryptic exons. | 19823873 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. | 15174027 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. | 11382771 | 2001 |
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|
G | 0.700 | CausalMutation | CLINVAR | Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. | 10234507 | 1999 |
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|
G | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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|
G | 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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|
G | 0.700 | CausalMutation | CLINVAR | Mutations associated with variant phenotypes in ataxia-telangiectasia. | 8755918 | 1996 |
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G | 0.700 | CausalMutation | CLINVAR | A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. | 8808599 | 1996 |