×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
10234507
1999
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
17726045
2007
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
25077176
2014
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
25122203
2014
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
10330348
1999
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.
18560558
2008
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
10864201
2000
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.
19404735
2010
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
22649200
2012
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
12815592
2003
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
27153395
2016
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.
27039262
2016
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
14695534
2004
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
25077176
2014
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
10425038
1999
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
26182300
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.
26220245
2016
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.
9682216
1998
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
9521587
1998
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Predominance of null mutations in ataxia-telangiectasia.
8845835
1996
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
15039971
2004
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.
24090759
2013
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
24763289
2014
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.
19404735
2010