Gene: C11orf65 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
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
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
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
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Mantle cell lymphoma is characterized by inactivation of the ATM gene. 10706620

2000
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043

1998
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 GeneticVariation CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731

1997
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
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
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Ataxia-telangiectasia with female fertility. 25914063

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014