Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. 8589678

1995

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600

1995

dbSNP: rs587782292
rs587782292
0.810 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

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Mantle cell lymphoma is characterized by inactivation of the ATM gene. 10706620

2000

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731

1997