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Gene entry

KCNQ2

potassium voltage-gated channel subfamily Q member 2

Chromosome
20
Cytoband
20q13.33
Variants (rsID)
62

KCNQ2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.33). Its official name is “potassium voltage-gated channel subfamily Q member 2”. The reference table lists 62 variants (rsID) for this gene.

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Clinically classified variants

39 reference-table entries with clinical significance.

  • rs118192233Benignsingle nucleotide variantSeizures, benign familial neonatal, 1
  • rs1801545Benignsingle nucleotide variantSeizures, benign familial neonatal, 1|Seizure|Early infantile epileptic encephalopathy with suppression bursts
  • rs35450031Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7|Seizure|Early infantile epileptic encephalopathy with suppression bursts
  • rs1057516099Conflicting interpretationssingle nucleotide variantEpileptic encephalopathy|Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts
  • rs117067974Conflicting interpretationssingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Seizure
  • rs148654588Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs371784719Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs374877247Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs748400155Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Continuous spike and waves during slow sleep
  • rs770187706Conflicting interpretationssingle nucleotide variantSeizure|Early infantile epileptic encephalopathy with suppression bursts
  • rs775089685Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts
  • rs547887704Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs772235691Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
  • rs1057516123Likely pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs1057516094Pathogenicsingle nucleotide variantEpileptic encephalopathy|Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts
  • rs1057516095Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7
  • rs1057516098Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 7
  • rs1057516121Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1
  • rs118192185Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Seizures, benign familial neonatal, 1
  • rs118192188PathogenicDuplicationSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs118192194Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 7|Seizures, benign familial neonatal, 1|KCNQ2-Related Disorders
  • rs118192203Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts|Seizures, benign familial neonatal, 1
  • rs118192208Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Inborn genetic diseases
  • rs118192215Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 7
  • rs118192216Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs118192226Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Seizure
  • rs118192234Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs118192235Pathogenicsingle nucleotide variantEpileptic encephalopathy|Seizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs118192236Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs28939684Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
  • rs74315391Pathogenicsingle nucleotide variantSeizures, benign familial neonatal, 1, and/or myokymia|Early infantile epileptic encephalopathy with suppression bursts|Inborn genetic diseases|Seizures, benign familial neonatal, 1|Developmental and epileptic encephalopathy, 7
  • rs74315392Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7|Seizures, benign familial neonatal, 2|Early infantile epileptic encephalopathy with suppression bursts
  • rs794727740Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7|Seizure|Early infantile epileptic encephalopathy with suppression bursts
  • rs796052621Pathogenicsingle nucleotide variantInborn genetic diseases|Seizures, benign familial neonatal, 1|Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts|See cases|Developmental and epileptic encephalopathy, 7
  • rs796052643Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 7
  • rs796052657PathogenicDeletionEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 1
  • rs777916008Uncertain significancesingle nucleotide variantSeizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts|Seizure
  • rs118192211Not classifiedsingle nucleotide variantSeizures, benign familial neonatal, 1
  • rs118192218Not classifiedsingle nucleotide variantSeizures, benign familial neonatal, 1

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.