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Gene entry

CDKL5

cyclin dependent kinase like 5

Chromosome
X
Cytoband
Xp22.13
Variants (rsID)
70

CDKL5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.13). Its official name is “cyclin dependent kinase like 5”. The reference table lists 70 variants (rsID) for this gene.

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Clinically classified variants

59 reference-table entries with clinical significance.

  • rs144878564Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs201893287Benignsingle nucleotide variantAutism|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs202153551Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs35478150Benignsingle nucleotide variantAngelman syndrome-like|Developmental and epileptic encephalopathy, 2|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 2
  • rs61753977Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like|History of neurodevelopmental disorder
  • rs189400843Conflicting interpretationssingle nucleotide variantAngelman syndrome-like|Developmental and epileptic encephalopathy, 2
  • rs267608437Conflicting interpretationssingle nucleotide variantRett syndrome|Developmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs369377144Conflicting interpretationssingle nucleotide variantAngelman syndrome-like|Developmental and epileptic encephalopathy, 2
  • rs756986206Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2
  • rs763466606Conflicting interpretationssingle nucleotide variantAngelman syndrome-like|Developmental and epileptic encephalopathy, 2
  • rs267608611Likely benignsingle nucleotide variantAtypical Rett syndrome|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs55803460Likely benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs587783161Likely benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like|CDKL5 disorder
  • rs267608418Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608435Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608500Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs267608515Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608532Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs104894928Pathogenicsingle nucleotide variantJuvenile retinoschisis|Retinal dystrophy
  • rs122460157Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome
  • rs122460158Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome
  • rs122460159Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs267606713Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608420PathogenicDuplicationDevelopmental and epileptic encephalopathy, 2
  • rs267608429Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608453Pathogenicsingle nucleotide variantAtypical Rett syndrome
  • rs267608468Pathogenicsingle nucleotide variantAtypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267608472Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267608477Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608490Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs267608501Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Epileptic encephalopathy|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267608505Pathogenicsingle nucleotide variantAtypical Rett syndrome
  • rs267608511Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267608528PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608537PathogenicDuplicationDevelopmental and epileptic encephalopathy, 2
  • rs267608552PathogenicDuplicationDevelopmental and epileptic encephalopathy, 2
  • rs267608561Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608565PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608618Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608623PathogenicDuplicationAtypical Rett syndrome
  • rs267608643Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267608644Pathogenicsingle nucleotide variantAtypical Rett syndrome
  • rs267608647Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608651PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608653Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608655PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608659Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs267608661PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608662PathogenicDeletionDevelopmental and epileptic encephalopathy, 2
  • rs267608663Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|History of neurodevelopmental disorder
  • rs61749700Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome
  • rs61749704Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2
  • rs61750250PathogenicDeletionAtypical Rett syndrome
  • rs61753251PathogenicDeletionDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs62641235Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Rett syndrome|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs62643614PathogenicDeletionAtypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs62653623Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Atypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like
  • rs267606714Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 2|Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|CDKL5 disorder
  • rs267608665Uncertain significancesingle nucleotide variantAtypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like|CDKL5 disorder

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.