Gene: C11orf65 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516282
rs1057516282
ATM ; C11orf65
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
dbSNP: rs1057516282
rs1057516282
ATM ; C11orf65
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
dbSNP: rs1057516282
rs1057516282
ATM ; C11orf65
AG 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs1060501536
rs1060501536
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501548
rs1060501548
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060501650
rs1060501650
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs1060501657
rs1060501657
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501713
rs1060501713
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793046
rs1064793046
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691149
rs1131691149
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs1131691156
rs1131691156
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691157
rs1131691157
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131691158
rs1131691158
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691162
rs1131691162
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691254
rs1131691254
ATM ; C11orf65
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
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
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
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996