|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
|
10534763 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
|
25480502 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.
|
11805335 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
|
28767289 |
2017 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
|
9497252 |
1998 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Contributions of ATM mutations to familial breast and ovarian cancer.
|
12810666 |
2003 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
|
9792409 |
1998 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
|
26506520 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
|
21665257 |
2011 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Dominant negative ATM mutations in breast cancer families.
|
11830610 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
|
25614872 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.
|
24663073 |
2015 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.
|
14695186 |
2003 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
|
29368341 |
2018 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
|
23566627 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
|
11382771 |
2001 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
9443866 |
1998 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
|
23211698 |
2013 |