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Gene entry

CASQ2

calsequestrin 2

Chromosome
1
Cytoband
1p13.1
Variants (rsID)
36

CASQ2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p13.1). Its official name is “calsequestrin 2”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

24 reference-table entries with clinical significance.

  • rs10801999Benignsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiomyopathy
  • rs12067472Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2
  • rs28730716Benignsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiomyopathy|Cardiac arrhythmia
  • rs2997742Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2
  • rs4074536Benignsingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs6428677Benignsingle nucleotide variantNeural tube defect|Sacral defect with anterior meningocele|Catecholaminergic polymorphic ventricular tachycardia
  • rs7521023Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Neural tube defect|Caudal regression sequence|Catecholaminergic polymorphic ventricular tachycardia 2
  • rs9428083Benignsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs139228801Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs139281637Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs142036299Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2
  • rs146664754Conflicting interpretationssingle nucleotide variantPolymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Cardiomyopathy|Sudden unexplained death|Catecholaminergic polymorphic ventricular tachycardia
  • rs148824162Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia
  • rs199939582Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
  • rs375320117Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs72554056Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2
  • rs74114618Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 2
  • rs12117088Likely benignsingle nucleotide variant
  • rs41267507Likely benignsingle nucleotide variant
  • rs147941846Likely pathogenicsingle nucleotide variant
  • rs121434549Pathogenicsingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 2
  • rs786205106PathogenicDeletionCatecholaminergic polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia 2
  • rs148057999Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia
  • rs28730713Uncertain significancesingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiomyopathy

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.