Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CEP290

centrosomal protein 290

Chromosome
12
Cytoband
12q21.32
Variants (rsID)
43

CEP290 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q21.32). Its official name is “centrosomal protein 290”. The reference table lists 43 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

35 reference-table entries with clinical significance.

  • rs142742071Benignsingle nucleotide variantBardet-Biedl syndrome 14|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Meckel syndrome, type 4|Joubert syndrome 5|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis
  • rs2468255Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis|Meckel syndrome, type 4|Joubert syndrome 5|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14
  • rs45502896Benignsingle nucleotide variantMeckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Leber congenital amaurosis
  • rs79644671Benignsingle nucleotide variantSenior-Loken syndrome 6|Joubert syndrome 5|Meckel syndrome, type 4|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Leber congenital amaurosis
  • rs7970228Benignsingle nucleotide variantMeckel syndrome, type 4|Joubert syndrome 5|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis
  • rs79705698Benignsingle nucleotide variantMeckel syndrome, type 4|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis
  • rs11104729Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Senior-Loken syndrome 6|Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Leber congenital amaurosis
  • rs117852025Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Meckel syndrome, type 4|Joubert syndrome 5|Leber congenital amaurosis 10|Leber congenital amaurosis|Intellectual disability
  • rs150138016Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 14|Joubert syndrome 5|Meckel syndrome, type 4|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Leber congenital amaurosis
  • rs181121175Conflicting interpretationssingle nucleotide variantJoubert syndrome 5|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis
  • rs182369459Conflicting interpretationssingle nucleotide variantJoubert syndrome 5|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Leber congenital amaurosis
  • rs183655276Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 10|Joubert syndrome 5|Senior-Loken syndrome 6|Meckel syndrome, type 4|Bardet-Biedl syndrome 14|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis
  • rs184143186Conflicting interpretationssingle nucleotide variantNephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Leber congenital amaurosis
  • rs188164241Conflicting interpretationssingle nucleotide variantJoubert syndrome 1|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Senior-Loken syndrome 6|Joubert syndrome 5|Leber congenital amaurosis
  • rs189556433Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Meckel syndrome, type 4|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Leber congenital amaurosis
  • rs191613017Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Nephronophthisis|Leber congenital amaurosis
  • rs201218801Conflicting interpretationssingle nucleotide variantJoubert syndrome 5|Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 4|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Joubert syndrome 5
  • rs201614215Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 14|Meckel syndrome, type 4|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Joubert syndrome 5|Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Leber congenital amaurosis
  • rs201838492Conflicting interpretationssingle nucleotide variantNephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 14|Joubert syndrome 5|Senior-Loken syndrome 6|Meckel syndrome, type 4|Leber congenital amaurosis 10|Leber congenital amaurosis
  • rs201988582Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Joubert syndrome 5|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|CEP290-Related Disorders|Inborn genetic diseases|Leber congenital amaurosis|Retinitis pigmentosa
  • rs759820573Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 14|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Joubert syndrome 5|Meckel syndrome, type 4
  • rs760915898Conflicting interpretationssingle nucleotide variantNephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 5|Bardet-Biedl syndrome 14|Leber congenital amaurosis 10|Meckel syndrome, type 4|Senior-Loken syndrome 6|CEP290-Related Disorders|Leber congenital amaurosis
  • rs77778467Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 10|Joubert syndrome 1|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 4|Joubert syndrome 5|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Leber congenital amaurosis
  • rs137852834Pathogenicsingle nucleotide variantLeber congenital amaurosis 10|Joubert syndrome 5|Blindness|Molar tooth sign on MRI|Nystagmus|Central hypotonia|Joubert syndrome 5|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Retinal dystrophy|Senior-Loken syndrome 6|Leber congenital amaurosis
  • rs267606719Pathogenicsingle nucleotide variantBardet-Biedl syndrome 14|Joubert syndrome 5|Meckel syndrome, type 6
  • rs281865192Pathogenicsingle nucleotide variantLeber congenital amaurosis 10|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Retinitis pigmentosa|Joubert syndrome 5|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Joubert syndrome 1|Retinal dystrophy|Intellectual disability|Joubert syndrome 5|CEP290-Related Disorders|Leber congenital amaurosis
  • rs370119681Pathogenicsingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Nephronophthisis|Leber congenital amaurosis 10|Leber congenital amaurosis|Meckel syndrome, type 4
  • rs386834149PathogenicDeletionMeckel syndrome, type 4|Joubert syndrome|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|See cases
  • rs62635288Pathogenicsingle nucleotide variantJoubert syndrome 5|Leber congenital amaurosis|Nephronophthisis|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome
  • rs62638179Pathogenicsingle nucleotide variantCEP290-Related Disorders|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis|Senior-Loken syndrome 6|Retinitis pigmentosa|Leber congenital amaurosis 10
  • rs727503853PathogenicDeletionJoubert syndrome 5|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis
  • rs747835249PathogenicDeletionRetinal dystrophy|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis
  • rs771454167PathogenicDeletionJoubert syndrome 5|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis 10|Leber congenital amaurosis
  • rs886043303PathogenicMicrosatelliteBlindness|Global developmental delay|Meckel-Gruber syndrome|Joubert syndrome|Nephronophthisis
  • rs184323010Uncertain significancesingle nucleotide variantJoubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Leber congenital amaurosis

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.