| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. | 24418350 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Isolated generalized dystonia in biallelic missense mutations of the ATM gene. | 23640770 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Newborn screening for SCID identifies patients with ataxia telangiectasia. | 23264026 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | 22213089 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 |
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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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|
T | 0.800 | CausalMutation | CLINVAR | Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. | 19691550 | 2009 |
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|
T | 0.800 | CausalMutation | CLINVAR | Different clinical and immunological presentation of ataxia-telangiectasia within the same family. | 18504682 | 2008 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. | 16380133 | 2006 |
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|
T | 0.800 | 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 | 0.800 | CausalMutation | CLINVAR | Comprehensive scanning of the ATM gene with DOVAM-S. | 12552559 | 2003 |