rs397514577
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described.
|
25077176 |
2014 |
rs28904921
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
rs28904921
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
rs587779852
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations.
|
18807267 |
2009 |
rs587779852
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations.
|
18807267 |
2009 |
rs730881394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma.
|
24090759 |
2013 |
rs587781598
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
rs587781598
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
rs759373136
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
rs397514577
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
|
22345219 |
2012 |
rs1057516537
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
rs786203489
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
rs587782276
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
rs786202148
|
|
GATACTA |
0.700 |
GeneticVariation |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
rs587781347
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
|
23726790 |
2013 |
rs752135143
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
|
23726790 |
2013 |
rs587779822
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
|
26023681 |
2015 |
rs587776551
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
rs786201675
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |