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Gene entry

HSPG2

heparan sulfate proteoglycan 2

Chromosome
1
Cytoband
1p36.12
Variants (rsID)
60

HSPG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.12). Its official name is “heparan sulfate proteoglycan 2”. The reference table lists 60 variants (rsID) for this gene.

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Clinically classified variants

32 reference-table entries with clinical significance.

  • rs1049675Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs112062179Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs114015043Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs114851469Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs115616224Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs12742444Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs139500146Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs141901178Benignsingle nucleotide variant
  • rs142458572Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs143543800Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs145476116Benignsingle nucleotide variant
  • rs2228348Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome
  • rs2229474Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs2229475Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs2254358Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs35669711Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs377228309Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs41266007Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs41311989Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome
  • rs74859884Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs75467696Benignsingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome
  • rs78889849Benignsingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs138460117Conflicting interpretationssingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs139001173Conflicting interpretationssingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs139838884Conflicting interpretationssingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome
  • rs143437991Conflicting interpretationssingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome
  • rs143669458Conflicting interpretationssingle nucleotide variantLethal Kniest-like syndrome|Schwartz-Jampel syndrome|Connective tissue disorder
  • rs143736974Conflicting interpretationssingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs137904249Uncertain significancesingle nucleotide variantSchwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder
  • rs142226974Uncertain significancesingle nucleotide variant
  • rs146184130Uncertain significancesingle nucleotide variant
  • rs151178822Uncertain 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.