Gene: ABL1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Ponatinib is a pan-BCR-ABL kinase inhibitor: MD simulations and SIE study. 24236021

2013
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Early detection and quantification of mutations in the tyrosine kinase domain of chimerical BCR-ABL1 gene combining high-resolution melting analysis and mutant-allele specific quantitative polymerase chain reaction. 22870928

2013
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 23676790

2013
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR In the present study, an allele-specific oligonucleotide reverse transcriptase polymerase chain reaction assay was used to detect T315I mutation in a cohort of 60 imatinib-resistant CML patients. 23540562

2013
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients. 23355941

2012
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Rapid quantitative detection of the T315I mutation in patients with chronic myelogenous leukemia. 22306673

2012
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Frequent EVI1 translocations in myeloid blast crisis CML that evolves through tyrosine kinase inhibitors. 21872826

2011
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Low-level Bcr-Abl mutations are very rare in chronic myeloid leukemia patients who are in major molecular response on first-line nilotinib. 21762985

2011
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia. 21895409

2011
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet. 21562040

2011
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR The mutation status of 65 patients with resistant CML was evaluated, and the T315I was detected in 3/65 (4.6%). 20512393

2011
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR We report a chronic-phase CML patient undergoing IM treatment, who showed the overt existence of the T315I mutation after 15 months. 20963643

2010
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR BCR-ABL tyrosine kinase inhibitors in the treatment of Philadelphia chromosome positive chronic myeloid leukemia: a review. 20537386

2010
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Mutations in ABL kinase domain are associated with inferior progression-free survival. 20367437

2010
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR The two major imatinib resistance mutations E255K and T315I enhance the activity of BCR/ABL fusion kinase. 15194504

2004
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. 14745431

2004
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. 12623848

2003
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. 12399961

2002
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 11853795

2002
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. 12130516

2002
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. 11964322

2002
dbSNP: rs121913459
rs121913459
ABL1
T 0.800 GeneticVariation CLINVAR Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 11423618

2001
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR [Correlation between point mutation in ABL kinase and clinical outcome of chronic myeloid leukemia patients]. 25152116

2014
dbSNP: rs121913452
rs121913452
ABL1
G 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014