×
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
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
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
8808599 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
8808599 1996
×
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
CausalMutation
CLINVAR
A new type of mutation causes a splicing defect in ATM.
11889466 2002
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.
18807267 2009
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.
25374739 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.
22927201 2012
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.
18431795 2008
×
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
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
CausalMutation
CLINVAR
Activation and regulation of ATM kinase activity in response to DNA double-strand breaks.
18066086 2007
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
15174027 2004
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.
27159176 2016
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Alpha fetoprotein is increasing with age in ataxia-telangiectasia.
17540590 2007
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
23566627 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
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
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Ataxia telangiectasia associated with nodular regenerative hyperplasia.
27671921 2016
×
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
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
23946315 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
23946315 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Ataxia telangiectasia: more variation at clinical and cellular levels.
25040471 2015
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Ataxia telangiectasia: more variation at clinical and cellular levels.
25040471 2015
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Ataxia telangiectasia: the consequences of a delayed diagnosis.
21354641 2011