| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | BEFREE | The c.3576G>A (p.K1192=) was the most common homozygous pathogenic ATM variant (33.33%) that was associated with milder phenotype of ataxia telangiectasia (AT) with the onset of age of 3. | 31741144 | 2020 |
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|
0.720 | GeneticVariation | BEFREE | Compared with 51 patients with classic A-T from the Dutch cohort, patients with <i>ATM</i> c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency. | 30819809 | 2019 |
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|
A | 0.720 | CausalMutation | CLINVAR | Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. | 27599564 | 2016 |
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|
A | 0.720 | CausalMutation | CLINVAR | Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. | 22071889 | 2012 |
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|
A | 0.720 | CausalMutation | CLINVAR | New mutations in the ATM gene and clinical data of 25 AT patients. | 21965147 | 2011 |
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|
A | 0.720 | CausalMutation | CLINVAR | Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. | 19691550 | 2009 |
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|
A | 0.720 | 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 | 0.720 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 |
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|
A | 0.720 | CausalMutation | CLINVAR | Predominance of null mutations in ataxia-telangiectasia. | 8845835 | 1996 |