| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Rare germline variants in ATM are associated with chronic lymphocytic leukemia. | 28652578 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | 27433846 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. | 27484032 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. | 25077176 | 2014 |
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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 | ATM mutations in patients with hereditary pancreatic cancer. | 22585167 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Rare variants in the ATM gene and risk of breast cancer. | 21787400 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. | 21445571 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations associated with variant phenotypes in ataxia-telangiectasia. | 8755918 | 1996 |