Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519758
rs1057519758
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519758
rs1057519758
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 GeneticVariation CLINVAR BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome. 24456693 2014
dbSNP: rs1057519758
rs1057519758
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 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: rs1057519758
rs1057519758
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 GeneticVariation CLINVAR Evidence for D276G and L364I Bcr-Abl mutations in Ph+ leukaemic cells obtained from patients resistant to Imatinib. 15510211 2005
dbSNP: rs1057519758
rs1057519758
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 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: rs1057519771
rs1057519771
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
C 0.730 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: rs1057519771
rs1057519771
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.730 GeneticVariation BEFREE Finding the right BCR-ABL1 tyrosine kinase inhibitor: a case report of successful treatment of a patient with chronic myeloid leukemia and a V299L mutation using nilotinib. 30419862 2018
dbSNP: rs1057519771
rs1057519771
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.730 GeneticVariation BEFREE It would be a useful pharmacological tool to study the TKI resistant ABL V299L mutant-mediated pathology and provide a potential precise treatment approach for this orphan CML subtype in the precision medicine era. 30894066 2019
dbSNP: rs1057519771
rs1057519771
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.730 GeneticVariation BEFREE Here we report successful sequential therapy with different TKIs for the CML patient harboring V299L and E459K compound mutations. 19201023 2009
dbSNP: rs1057519771
rs1057519771
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0178874
Disease:
Tumor Progression
0.010 GeneticVariation BEFREE CHMFL-ABL-039 has demonstrated greater efficacies than Imatinib regarding to the anti-proliferation, inhibition of the signaling pathway, arrest of cell cycle progression, induction of apoptosis in vitro and suppression of the tumor progression in vivo in the native and V299L mutated BCR-ABL kinase-driven cells/xenograft models. 30894066 2019
dbSNP: rs1057519772
rs1057519772
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 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: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
A 0.710 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: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.710 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: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.710 GeneticVariation BEFREE Characteristics and outcome of chronic myeloid leukemia patients with F317L BCR-ABL kinase domain mutation after therapy with tyrosine kinase inhibitors. 18818391 2008
dbSNP: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0005699
Disease:
Blast Phase
0.010 GeneticVariation BEFREE At the time of F317L, 8 patients were in chronic phase (CP), 6 in accelerated phase, and 6 in blast phase. 18818391 2008
dbSNP: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE At the first relapse, an examination of the bone marrow revealed a transformation into acute lymphoblastic leukemia and an F317L mutation in BCR-ABL1 gene, which responded preferentially to nilotinib over dasatinib. 24532437 2014
dbSNP: rs1057519773
rs1057519773
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE At the first relapse, an examination of the bone marrow revealed a transformation into acute lymphoblastic leukemia and an F317L mutation in BCR-ABL1 gene, which responded preferentially to nilotinib over dasatinib. 24532437 2014
dbSNP: rs1057519774
rs1057519774
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 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: rs1057519775
rs1057519775
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
G 0.700 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: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4539857
Disease:
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
G 0.800 CausalMutation CLINVAR
dbSNP: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4539857
Disease:
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0231246
Disease:
Failure to gain weight
G 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0152021
Disease:
Congenital heart disease
G 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499547
rs1060499547
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4023165
Disease:
Abnormality of skeletal morphology
G 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4539857
Disease:
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
0.800 GeneticVariation UNIPROT