Chronic myeloid leukemia: genes and variants
Chronic myeloid leukemia is linked to 1 analyzed protein (ABL1). 3 DNA variants are known to cause it; 6 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 Chronic myeloid leukemia
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.
3 disease-causing and 2 uncertain variants in ABL1 are linked to Chronic myeloid leukemia.
Weakly linked (only a few uncertain records): BCR, ASXL1, IDH1 and TET2.
Known disease-causing variants in Chronic myeloid leukemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABL1 T315I | 315 | Protein kinase | Disease-causing (★★) |
| ABL1 F311L | 311 | Protein kinase | Disease-causing |
| ABL1 M351T | 351 | 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 Chronic myeloid leukemia variants (14 disease-causing).
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib is also caused by ABL1 variants; they fall mostly in different places as the Chronic myeloid leukemia variants (5 disease-causing).
Diseases related to Chronic myeloid leukemia
- 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
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib, also linked to ABL1
- Lip and oral cavity carcinoma, also linked to ABL1
Frequently asked questions
Which genes are linked to Chronic myeloid leukemia?
In CATVariant, Chronic myeloid leukemia is linked to 1 analyzed protein: ABL1 (Tyrosine-protein kinase ABL1).
How many genetic variants are linked to Chronic myeloid leukemia?
14 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Chronic myeloid leukemia 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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