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Gene entry

CBL

Cbl proto-oncogene

Chromosome
11
Cytoband
11q23.3
Variants (rsID)
24

CBL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.3). Its official name is “Cbl proto-oncogene”. The reference table lists 24 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs1047417Benignsingle nucleotide variantCBL-related disorder
  • rs117804312Benignsingle nucleotide variantCBL-related disorder
  • rs201631570Benignsingle nucleotide variantCBL-related disorder|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs2227986Benignsingle nucleotide variantCBL-related disorder|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs2227988Benignsingle nucleotide variantRASopathy|CBL-related disorder|Noonan syndrome and Noonan-related syndrome
  • rs2298650Benignsingle nucleotide variant
  • rs3829261Benignsingle nucleotide variantCBL-related disorder
  • rs146250423Conflicting interpretationssingle nucleotide variantRASopathy|CBL-related disorder
  • rs199788586Conflicting interpretationssingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
  • rs200220863Conflicting interpretationssingle nucleotide variantRASopathy
  • rs2229073Conflicting interpretationssingle nucleotide variantCBL-related disorder|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs267606708Conflicting interpretationssingle nucleotide variantCBL-related disorder|Fragile site 11b|RASopathy|CBL-related disorder|Rhabdomyosarcoma
  • rs730880427Conflicting interpretationssingle nucleotide variantCBL-related disorder
  • rs150550899Likely benignsingle nucleotide variantRASopathy
  • rs267606704Pathogenicsingle nucleotide variantFragile site 11b|CBL-related disorder|RASopathy|Inborn genetic diseases|CBL-related disorder|Noonan syndrome and Noonan-related syndrome
  • rs267606706Pathogenicsingle nucleotide variantNoonan syndrome-like disorder with juvenile myelomonocytic leukemia|Hematologic neoplasm|RASopathy|Juvenile myelomonocytic leukemia|CBL-related disorder|See cases
  • rs143276937Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.