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Gene entry

CLN8

CLN8 transmembrane ER and ERGIC protein

Chromosome
8
Cytoband
8p23.3
Variants (rsID)
23

CLN8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p23.3). Its official name is “CLN8 transmembrane ER and ERGIC protein”. The reference table lists 23 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs139003032Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant|Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|See cases
  • rs368365607Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
  • rs386834124Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|Inborn genetic diseases
  • rs138821993Likely benignsingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs149308952Likely pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 8
  • rs386834127Likely pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 8
  • rs746645358Likely pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 8
  • rs104894060Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant|Neuronal ceroid lipofuscinosis|CLN8-related disorder
  • rs104894064Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 8 northern epilepsy variant|Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
  • rs144495588Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
  • rs142104002Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8
  • rs386834129Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 8
  • rs386834134Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis
  • rs4875958Not classifiedintron_variant

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.