×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
CLINVAR
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
25122203
2014
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
CLINVAR
Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.
27039262
2016
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
CLINVAR
Predominance of null mutations in ataxia-telangiectasia.
8845835
1996
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
CLINVAR
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.
11805335
2002
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
25572163
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
JPred4: a protein secondary structure prediction server.
25883141
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
26506520
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
23632773
2013
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Ataxia-telangiectasia with female fertility.
25914063
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
22529920
2012
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
22345219
2012
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
9872980
1998
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
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
0.100
GeneticVariation
group
CLINVAR
New mutations in the ATM gene and clinical data of 25 AT patients.
21965147
2011
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
9443866
1998
×
Entrez Id:
472
Gene Symbol:
ATM
ATM
0.100
GeneticVariation
group
CLINVAR
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.
24506781
2014