rs1057516282
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.
|
16603769 |
2006 |
rs1057516282
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
|
25480502 |
2015 |
rs1057516282
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
rs1060501536
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501548
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501650
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs1060501657
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501713
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1064793046
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691149
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs1131691156
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691157
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691158
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691162
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691254
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs121434219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs121434219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
rs121434219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
rs121434219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
rs121434219
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel ATM mutations with ataxia-telangiectasia.
|
26628246 |
2016 |
rs121434220
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
rs121434220
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
rs121434220
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs121434220
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |