Gene: C11orf65 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
dbSNP: rs1232259438
rs1232259438
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR

dbSNP: rs1282099124
rs1282099124
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 12655570

2003
dbSNP: rs1282099124
rs1282099124
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971

2004
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays. 10416970

1999
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176

2016
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs1398616877
rs1398616877
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1438576066
rs1438576066
ATM ; C11orf65
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Molecular defects in Moroccan patients with ataxia-telangiectasia. 23322442

2013
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 23946315

2013
dbSNP: rs147187700
rs147187700
ATM ; C11orf65
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555110295
rs1555110295
ATM ; C11orf65
CCTC 0.700 CausalMutation CLINVAR

dbSNP: rs1555110418
rs1555110418
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR