C11orf65, chromosome 11 open reading frame 65, 160140
N. diseases: 45; N. variants: 387
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. | 27664052 | 2017 | |||||||
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T | 0.800 | 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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T | 0.800 | GeneticVariation | CLINVAR | Neuropathology in classical and variant ataxia-telangiectasia. | 22017321 | 2012 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 | ||||||
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T | 0.800 | GeneticVariation | CLINVAR | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. | 18634022 | 2009 | ||||||
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0.800 | GeneticVariation | UNIPROT | Modeling ATM mutant proteins from missense changes confirms retained kinase activity. | 19431188 | 2009 | |||||||
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T | 0.800 | GeneticVariation | CLINVAR | Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. | 18634022 | 2009 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 | ||||||
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T | 0.800 | GeneticVariation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. | 10873394 | 2000 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | |||||||
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T | 0.800 | GeneticVariation | CLINVAR | Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. | 10873394 | 2000 | ||||||
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T | 0.800 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 | ||||||
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0.800 | GeneticVariation | UNIPROT | Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. | 10234507 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 | |||||||
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0.800 | GeneticVariation | UNIPROT | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. | 9872980 | 1998 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 | ||||||
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0.800 | GeneticVariation | UNIPROT | ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | 9463314 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. | 9711876 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. | 9521587 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Genotype-phenotype relationships in ataxia-telangiectasia and variants. | 9497252 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. | 9792409 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. | 9450874 | 1998 |