rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
|
26094658 |
2015 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
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 |
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 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mantle cell lymphoma is characterized by inactivation of the ATM gene.
|
10706620 |
2000 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
ATM is usually rearranged in T-cell prolymphocytic leukaemia.
|
9488043 |
1998 |
rs587782292
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
rs587782292
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.
|
9334731 |
1997 |
rs587781511
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
rs786203054
|
|
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 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs587779872
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs121434216
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
|
26506520 |
2015 |