| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | 28779002 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. | 26662178 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. | 25502423 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. | 22763152 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. | 21665257 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. | 16266405 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. | 15843990 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers. | 14970866 | 2004 |