Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
C | 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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|
C | 0.700 | CausalMutation | CLINVAR | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | 27433846 | 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 | Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. | 21833744 | 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 | Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. | 15039971 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. | 10980530 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 |
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|
G | 0.700 | GeneticVariation | CLINVAR |