Gene: MRE11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852760
rs137852760
MRE11
0.800 GeneticVariation UNIPROT The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394

1999
dbSNP: rs137852760
rs137852760
MRE11
C 0.800 CausalMutation CLINVAR

dbSNP: rs137852763
rs137852763
MRE11
0.720 GeneticVariation BEFREE This is the biggest ATLD group of patients that may suggest noticeable heterozygous carriers of G630C mutation in the general population. 18652530

2008
dbSNP: rs137852763
rs137852763
MRE11
0.720 GeneticVariation BEFREE Saccadic dysfunction without head thrusts and convergence abnormality are common in ATLD secondary to homozygous W210C MRE11 mutation. 18083591

2008
dbSNP: rs137852763
rs137852763
MRE11
G 0.720 CausalMutation CLINVAR

dbSNP: rs137852761
rs137852761
MRE11
A 0.710 GeneticVariation CLINVAR Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. 29170652

2017
dbSNP: rs137852761
rs137852761
MRE11
A 0.710 GeneticVariation CLINVAR Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations. 15269180

2004
dbSNP: rs137852761
rs137852761
MRE11
0.710 GeneticVariation BEFREE Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations. 15269180

2004
dbSNP: rs137852761
rs137852761
MRE11
A 0.710 GeneticVariation CLINVAR hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 11371508

2001
dbSNP: rs137852761
rs137852761
MRE11
A 0.710 CausalMutation CLINVAR

dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
A 0.700 CausalMutation CLINVAR Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer. 28559769

2017
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
A 0.700 CausalMutation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
A 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007

2012
dbSNP: rs759130031
rs759130031
MRE11
T 0.700 GeneticVariation CLINVAR Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 21227757

2011
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. 19383352

2008
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. 14690604

2003
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394

1999
dbSNP: rs137852759
rs137852759
MRE11
A 0.700 CausalMutation CLINVAR A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. 8445618

1993
dbSNP: rs1295485913
rs1295485913
MRE11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852762
rs137852762
MRE11
T 0.700 CausalMutation CLINVAR

dbSNP: rs372068015
rs372068015
MRE11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587781384
rs587781384
MRE11
A 0.700 CausalMutation CLINVAR

dbSNP: rs587781442
rs587781442
MRE11
TGAAGTGGTAGGAAAAATGTC 0.700 CausalMutation CLINVAR