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Gene entry

SCN2A

sodium voltage-gated channel alpha subunit 2

Chromosome
2
Cytoband
2q24.3
Variants (rsID)
56

SCN2A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q24.3). Its official name is “sodium voltage-gated channel alpha subunit 2”. The reference table lists 56 variants (rsID) for this gene.

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Clinically classified variants

29 reference-table entries with clinical significance.

  • rs12468669Benignsingle nucleotide variant
  • rs150209984Benignsingle nucleotide variantSeizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs17183814Benignsingle nucleotide variantSeizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs1816918Benignsingle nucleotide variant
  • rs185590667Benignsingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|History of neurodevelopmental disorder
  • rs199698414Benignsingle nucleotide variantSeizures, benign familial infantile, 3|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs200546427Benignsingle nucleotide variantSeizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs543538780Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|History of neurodevelopmental disorder
  • rs138497939Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11
  • rs139815570Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs143765389Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs144325450Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs144814658Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs147084515Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs147522594Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Episodic ataxia, type 9
  • rs149534277Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|History of neurodevelopmental disorder
  • rs187731029Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs200603552Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs561375550Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs587781156Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs6706924Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs796053111Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs886042771Conflicting interpretationssingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11
  • rs121917750Pathogenicsingle nucleotide variantSeizures, benign familial infantile, 3
  • rs121917751Pathogenicsingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs121917753Pathogenicsingle nucleotide variantComplex neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11|Early infantile epileptic encephalopathy with suppression bursts
  • rs796053130Pathogenicsingle nucleotide variantEpileptic encephalopathy
  • rs121917748Uncertain significancesingle nucleotide variantSeizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3
  • rs143734912Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3

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.