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Gene entry

OCRL

OCRL inositol polyphosphate-5-phosphatase

Chromosome
X
Cytoband
Xq26.1
Variants (rsID)
51

OCRL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.1). Its official name is “OCRL inositol polyphosphate-5-phosphatase”. The reference table lists 51 variants (rsID) for this gene.

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Clinically classified variants

37 reference-table entries with clinical significance.

  • rs138260625Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Lowe syndrome
  • rs61752971Benignsingle nucleotide variantDevelopmental cataract|History of neurodevelopmental disorder|Lowe syndrome
  • rs398123287Conflicting interpretationssingle nucleotide variant
  • rs137853263Likely pathogenicsingle nucleotide variantDent disease type 2|Lowe syndrome
  • rs137853831Likely pathogenicsingle nucleotide variantLowe syndrome
  • rs137853260Pathogenicsingle nucleotide variantLowe syndrome
  • rs137853261Pathogenicsingle nucleotide variantLowe syndrome
  • rs137853262Pathogenicsingle nucleotide variantDent disease type 2
  • rs137853846Pathogenicsingle nucleotide variantDent disease type 2
  • rs137853858Pathogenicsingle nucleotide variantLowe syndrome
  • rs387906484Pathogenicsingle nucleotide variantLowe syndrome
  • rs137853838Uncertain significancesingle nucleotide variantLowe syndrome
  • rs137853828Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853829Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853830Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853832Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853833Not classifiedsingle nucleotide variantDent disease type 2
  • rs137853834Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853835Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853836Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853837Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853839Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853840Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853841Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853842Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853843Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853844Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853845Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853848Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853850Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853851Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853852Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853853Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853854Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853855Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853856Not classifiedsingle nucleotide variantLowe syndrome
  • rs137853857Not classifiedsingle nucleotide variantLowe syndrome

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.