| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Ataxia telangiectasia associated with nodular regenerative hyperplasia. | 27671921 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. | 26270727 | 2015 |
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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 | DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. | 17124347 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | A new type of mutation causes a splicing defect in ATM. | 11889466 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. | 10980530 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 |
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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 | GeneticVariation | CLINVAR |