| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Isolated generalized dystonia in biallelic missense mutations of the ATM gene. | 23640770 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. | 22529920 | 2012 |
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|
T | 0.700 | 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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|
T | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. | 16380133 | 2006 |
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|
T | 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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|
T | 0.700 | CausalMutation | CLINVAR | Functional consequences of ATM sequence variants for chromosomal radiosensitivity. | 15101044 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | 10817650 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. | 10873394 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | 9887333 | 1999 |