| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
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|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
|||
|
GA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AG | 0.700 | GeneticVariation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
|||
|
TC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. | 19781682 | 2009 |
|||
|
AC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin. | 23585524 | 2013 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. | 23632773 | 2013 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR | Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. | 21778326 | 2011 |
|||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. | 21665257 | 2011 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR |