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Gene entry

CNTNAP2

contactin associated protein 2

Chromosome
7
Cytoband
7q35-q36.1
Variants (rsID)
557

CNTNAP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q35-q36.1). Its official name is “contactin associated protein 2”. The reference table lists 557 variants (rsID) for this gene.

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Clinically classified variants

35 reference-table entries with clinical significance.

  • rs148104020Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs2530311Benignsingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs3779031Benignsingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder
  • rs117876038Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs121908445Conflicting interpretationssingle nucleotide variantAutism, susceptibility to, 15|Cortical dysplasia-focal epilepsy syndrome
  • rs138481453Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|See cases
  • rs141078449Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder
  • rs141439475Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs141772824Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs142331907Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
  • rs142984073Conflicting interpretationssingle nucleotide variantPitt-Hopkins-like syndrome|Cortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
  • rs143286960Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs143507886Conflicting interpretationssingle nucleotide variantPitt-Hopkins-like syndrome|Cortical dysplasia-focal epilepsy syndrome
  • rs143856702Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs143877693Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
  • rs145162968Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs148453565Conflicting interpretationssingle nucleotide variantAutism, susceptibility to, 15|Cortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs149185385Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder
  • rs150607716Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs201076428Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs201311931Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Intellectual disability
  • rs201602527Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs369056998Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs370095062Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
  • rs371839994Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Autism, susceptibility to, 15|Cortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
  • rs546437079Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs549396215Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs56356283Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder
  • rs727503877Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs74354654Conflicting interpretationssingle nucleotide variantPitt-Hopkins-like syndrome|Cortical dysplasia-focal epilepsy syndrome|History of neurodevelopmental disorder
  • rs748908765Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs770951811Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome
  • rs773595457Conflicting interpretationssingle nucleotide variantCortical dysplasia-focal epilepsy syndrome
  • rs138738227Uncertain significancesingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome|History of neurodevelopmental disorder
  • rs17171000Uncertain significancesingle nucleotide variantCortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like 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.