Gene: C11orf65 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039623
rs886039623
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR

dbSNP: rs879254036
rs879254036
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs876660813
rs876660813
ATM ; C11orf65
GT 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038

1999
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335

2002
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs876660567
rs876660567
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs876660411
rs876660411
ATM ; C11orf65
GA 0.700 CausalMutation CLINVAR Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. 22006793

2012
dbSNP: rs876660382
rs876660382
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs876660382
rs876660382
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
GA 0.700 CausalMutation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 12655570

2003
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. 16941484

2006
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs876660088
rs876660088
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. 21933854

2012
dbSNP: rs876660066
rs876660066
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. 22006793

2012
dbSNP: rs876660041
rs876660041
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs876660022
rs876660022
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs876660022
rs876660022
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998
dbSNP: rs876659872
rs876659872
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. 17910737

2008
dbSNP: rs876659569
rs876659569
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs876659489
rs876659489
ATM ; C11orf65
G 0.700 GeneticVariation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998