Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874

1998
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 27989354

2017
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998
dbSNP: rs786203054
rs786203054
ATM
0.800 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: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198

2011
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. 22071889

2012
dbSNP: rs587776551
rs587776551
ATM
0.720 GeneticVariation BEFREE The c.3576G>A (p.K1192=) was the most common homozygous pathogenic ATM variant (33.33%) that was associated with milder phenotype of ataxia telangiectasia (AT) with the onset of age of 3. 31741144

2020
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer. 27599564

2016
dbSNP: rs587776551
rs587776551
ATM
0.720 GeneticVariation BEFREE Compared with 51 patients with classic A-T from the Dutch cohort, patients with <i>ATM</i> c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency. 30819809

2019
dbSNP: rs587776551
rs587776551
ATM
A 0.720 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006
dbSNP: rs587779815
rs587779815
ATM
T 0.710 GeneticVariation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs587779815
rs587779815
ATM
T 0.710 CausalMutation CLINVAR Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. 23612382

2013
dbSNP: rs587779815
rs587779815
ATM
T 0.710 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996