Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. 25077176

2014
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 9463314

1998
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 9463314

1998
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.720 GeneticVariation BEFREE We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations. 18807267

2009
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
T 0.720 CausalMutation CLINVAR We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations. 18807267

2009
dbSNP: rs730881394
rs730881394
ATM ; C11orf65
0.010 GeneticVariation BEFREE We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. 24090759

2013
dbSNP: rs587781598
rs587781598
ATM
C 0.700 CausalMutation CLINVAR Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. 23143971

2013
dbSNP: rs587781598
rs587781598
ATM
C 0.700 GeneticVariation CLINVAR Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. 23143971

2013
dbSNP: rs759373136
rs759373136
ATM
A 0.700 GeneticVariation CLINVAR Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. 23143971

2013
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 22345219

2012
dbSNP: rs1057516537
rs1057516537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773

2013
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773

2013
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. 23632773

2013
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
T 0.710 CausalMutation CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588

2005
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
T 0.710 GeneticVariation CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588

2005
dbSNP: rs786203489
rs786203489
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. 16238588

2005
dbSNP: rs587782276
rs587782276
ATM
G 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs786202148
rs786202148
ATM
GATACTA 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs587781347
rs587781347
ATM
C 0.700 GeneticVariation CLINVAR Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. 23726790

2013
dbSNP: rs752135143
rs752135143
ATM
A 0.700 GeneticVariation CLINVAR Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. 23726790

2013
dbSNP: rs587779822
rs587779822
ATM
GA 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015
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: rs587782719
rs587782719
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. 22071889

2012
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. 22071889

2012
dbSNP: rs786201675
rs786201675
ATM
C 0.700 CausalMutation CLINVAR Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. 22071889

2012