|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
|
26380989 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
|
12815592 |
2003 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
|
23585524 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.
|
10416970 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Heterozygous ATM mutations do not contribute to early onset of breast cancer.
|
9054948 |
1997 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.
|
11756177 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
|
27528516 |
2016 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
|
9792409 |
1998 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
|
22006793 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
|
22649200 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Pathogenic Germline Variants in 10,389 Adult Cancers.
|
29625052 |
2018 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
|
9711876 |
1998 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
|
26506520 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Two ATM variants and breast cancer risk.
|
15880680 |
2005 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
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 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical variability in ataxia-telangiectasia.
|
25957637 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies.
|
8923007 |
1996 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |