Leukemia, Philadelphia chromosome-positive, resistant to imatinib: genes and variants
Leukemia, Philadelphia chromosome-positive, resistant to imatinib is linked to 1 analyzed protein (ABL1). 5 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Leukemia, Philadelphia chromosome-positive, resistant to imatinib
ABL1: Tyrosine-protein kinase ABL1
It coordinates cytoskeletal remodeling, adhesion, DNA-damage responses, and growth signaling through tightly regulated tyrosine phosphorylation. Fusion with BCR removes normal control and creates the constitutively active kinase that drives chronic myeloid leukemia and subsets of acute lymphoblastic leukemia.
5 disease-causing and 0 uncertain variants in ABL1 are linked to Leukemia, Philadelphia chromosome-positive, resistant to imatinib.
Where Leukemia, Philadelphia chromosome-positive, resistant to imatinib variants cluster
- ABL1 Protein kinase (positions 242–493): 3 of 5 disease-causing changes, 2.7× more than its size predicts.
Known disease-causing variants in Leukemia, Philadelphia chromosome-positive, resistant to imatinib
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABL1 E255K | 255 | Protein kinase | Disease-causing |
| ABL1 E255V | 255 | Protein kinase | Disease-causing |
| ABL1 E236K | 236 | Disease-causing | |
| ABL1 E236V | 236 | Disease-causing | |
| ABL1 Y253H | 253 | Protein kinase | Disease-causing |
Same protein, different disease
- Congenital heart defects and skeletal malformations syndrome is also caused by ABL1 variants; they fall mostly in different places as the Leukemia, Philadelphia chromosome-positive, resistant to imatinib variants (14 disease-causing).
- Chronic myeloid leukemia is also caused by ABL1 variants; they fall mostly in different places as the Leukemia, Philadelphia chromosome-positive, resistant to imatinib variants (3 disease-causing).
Diseases related to Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Gastrointestinal stromal tumor, also linked to ABL1
- Colorectal cancer, also linked to ABL1
- Congenital heart defects and skeletal malformations syndrome, also linked to ABL1
- Microcephaly, also linked to ABL1
- Lip and oral cavity carcinoma, also linked to ABL1
- Chronic myeloid leukemia, also linked to ABL1
Frequently asked questions
Which genes are linked to Leukemia, Philadelphia chromosome-positive, resistant to imatinib?
In CATVariant, Leukemia, Philadelphia chromosome-positive, resistant to imatinib is linked to 1 analyzed protein: ABL1 (Tyrosine-protein kinase ABL1).
How many genetic variants are linked to Leukemia, Philadelphia chromosome-positive, resistant to imatinib?
5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Leukemia, Philadelphia chromosome-positive, resistant to imatinib look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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