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Gene entry

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

Chromosome
5
Cytoband
5p13.2
Variants (rsID)
51

CPLANE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p13.2). Its official name is “ciliogenesis and planar polarity effector complex subunit 1”. The reference table lists 51 variants (rsID) for this gene.

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Clinically classified variants

36 reference-table entries with clinical significance.

  • rs114126795Benignsingle nucleotide variantJoubert syndrome 17
  • rs141486731Benignsingle nucleotide variantJoubert syndrome 17
  • rs141575785Benignsingle nucleotide variantJoubert syndrome 17
  • rs142777778Benignsingle nucleotide variantJoubert syndrome 17
  • rs143147192Benignsingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs148634159Benignsingle nucleotide variantJoubert syndrome 17
  • rs16903514Benignsingle nucleotide variantJoubert syndrome 17
  • rs34737149Benignsingle nucleotide variantJoubert syndrome 17
  • rs72736758Benignsingle nucleotide variantJoubert syndrome 17
  • rs74975451Benignsingle nucleotide variantJoubert syndrome 17
  • rs77014998Benignsingle nucleotide variantJoubert syndrome 17
  • rs79377186Benignsingle nucleotide variantJoubert syndrome 17
  • rs79935028Benignsingle nucleotide variantJoubert syndrome 17
  • rs141153181Conflicting interpretationssingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6
  • rs141911199Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs144969169Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs145520487Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs149313666Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs150556877Conflicting interpretationssingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs151279194Conflicting interpretationssingle nucleotide variantJoubert syndrome 17|See cases
  • rs186970259Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs191239995Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs199810663Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs200332492Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs34161326Conflicting interpretationssingle nucleotide variantJoubert syndrome 17
  • rs139675596Pathogenicsingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs149170427Pathogenicsingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs367543061Pathogenicsingle nucleotide variantJoubert syndrome 17|Joubert syndrome and related disorders
  • rs367543062Pathogenicsingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs730882217PathogenicDeletionTypical Joubert syndrome MRI findings|Global developmental delay|Joubert syndrome 17
  • rs749523755Pathogenicsingle nucleotide variantJoubert syndrome 17|Global developmental delay|Jaundice|Joubert syndrome 17|Orofaciodigital syndrome type 6|Orofaciodigital syndrome type 6
  • rs863225163Pathogenicsingle nucleotide variantJoubert syndrome 17
  • rs111294855Uncertain significancesingle nucleotide variantJoubert syndrome 17
  • rs116198390Uncertain significancesingle nucleotide variantJoubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17
  • rs189493985Uncertain significancesingle nucleotide variantOrofaciodigital syndrome type 6|Joubert syndrome 17
  • rs77739540Uncertain 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.