Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. | 24418350 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | 23807571 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | 25614872 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | 10330348 | 1999 |
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|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TACAG | 0.700 | CausalMutation | CLINVAR | ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. | 9711876 | 1998 |
|||
|
TACAG | 0.700 | CausalMutation | CLINVAR | Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. | 9872980 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. | 22006793 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. | 20840352 | 2011 |
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|
A | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. | 16941484 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. | 10864201 | 2000 |
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|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | 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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|
T | 0.700 | CausalMutation | CLINVAR |