Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852760
rs137852760
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852763
rs137852763
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		G 0.720 CausalMutation CLINVAR
dbSNP: rs137852761
rs137852761
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		A 0.710 GeneticVariation CLINVAR Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. 29170652 2017
dbSNP: rs137852761
rs137852761
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		A 0.710 CausalMutation CLINVAR
dbSNP: rs137852761
rs137852761
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		A 0.710 CausalMutation CLINVAR
dbSNP: rs371077728
rs371077728
Entrez Id: 4361;100302275
Gene Symbol: MRE11;MIR548L
MRE11;MIR548L
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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: rs745677716
rs745677716
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555 2017
dbSNP: rs759130031
rs759130031
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		T 0.700 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823 2017
dbSNP: rs371077728
rs371077728
Entrez Id: 4361;100302275
Gene Symbol: MRE11;MIR548L
MRE11;MIR548L
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 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: rs587780138
rs587780138
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
dbSNP: rs587781384
rs587781384
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
dbSNP: rs587781822
rs587781822
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299 2016
dbSNP: rs774277300
rs774277300
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C1858391
Disease:
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		A 0.700 CausalMutation CLINVAR Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
dbSNP: rs786202801
rs786202801
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
dbSNP: rs786202801
rs786202801
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
dbSNP: rs137852759
rs137852759
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		A 0.700 CausalMutation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471 2015
dbSNP: rs371077728
rs371077728
Entrez Id: 4361;100302275
Gene Symbol: MRE11;MIR548L
MRE11;MIR548L
CUI: C4012790
Disease:
Ataxia-Telangiectasisa-Like Disorder 1 		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
Entrez Id: 4361;100302275
Gene Symbol: MRE11;MIR548L
MRE11;MIR548L
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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