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Gene entry

CBS

cystathionine beta-synthase

Chromosome
21
Cytoband
21q22.3
Variants (rsID)
53

CBS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “cystathionine beta-synthase”. The reference table lists 53 variants (rsID) for this gene.

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Clinically classified variants

36 reference-table entries with clinical significance.

  • rs115185587Benignsingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs186114513Benignsingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs2228298Benignsingle nucleotide variantCardiovascular phenotype|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs2298758Benignsingle nucleotide variantCardiovascular phenotype|Classic homocystinuria|Connective tissue disorder
  • rs234706Benignsingle nucleotide variantCardiovascular phenotype|Classic homocystinuria|Connective tissue disorder|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs75616587Benignsingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs76292057Benignsingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs111386779Conflicting interpretationssingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs117687681Conflicting interpretationssingle nucleotide variantClassic homocystinuria|Cardiovascular phenotype|Connective tissue disorder
  • rs121964970Conflicting interpretationssingle nucleotide variantHomocystinuria, pyridoxine-responsive|Cardiovascular phenotype|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria
  • rs149280976Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs149809170Conflicting interpretationssingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs199948079Conflicting interpretationssingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria
  • rs201372812Conflicting interpretationssingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs370514077Conflicting interpretationssingle nucleotide variantClassic homocystinuria|Cardiovascular phenotype|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs5742905Conflicting interpretationssingle nucleotide variantHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria, pyridoxine-responsive|Classic homocystinuria|Cardiovascular phenotype|Homocystinuria|Intellectual disability|Connective tissue disorder
  • rs786204608Likely pathogenicsingle nucleotide variantClassic homocystinuria
  • rs121964962Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-nonresponsive|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Classic homocystinuria|Homocystinuria|Cardiovascular phenotype
  • rs121964964Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-responsive|Classic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs121964965Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-responsive
  • rs121964969Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-responsive|Classic homocystinuria|Cardiovascular phenotype|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs121964972Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-nonresponsive|Classic homocystinuria|Cardiovascular phenotype|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Homocystinuria
  • rs121964973Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-nonresponsive|Classic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs148865119Pathogenicsingle nucleotide variantCardiovascular phenotype|Classic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs149119723Pathogenicsingle nucleotide variantClassic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs372010465Pathogenicsingle nucleotide variantClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs375846341Pathogenicsingle nucleotide variantHomocystinuria, pyridoxine-responsive|Classic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs398123151Pathogenicsingle nucleotide variantClassic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs763036586Pathogenicsingle nucleotide variantClassic homocystinuria
  • rs766453711PathogenicDeletionClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs779250698PathogenicDeletionClassic homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs781567152Pathogenicsingle nucleotide variantClassic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • rs139456571Uncertain significancesingle nucleotide variantCardiovascular phenotype|Classic homocystinuria
  • rs140002610Uncertain significancesingle nucleotide variantClassic homocystinuria|Cardiovascular phenotype|Intellectual disability
  • rs147474549Uncertain significancesingle nucleotide variantClassic homocystinuria
  • rs234714Not classified5_prime_UTR_variantHeart Disease

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.