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Gene entry

CLN6

CLN6 transmembrane ER protein

Chromosome
15
Cytoband
15q23
Variants (rsID)
22

CLN6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q23). Its official name is “CLN6 transmembrane ER protein”. The reference table lists 22 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs151295143Benignsingle nucleotide variantSeizure|Neuronal ceroid lipofuscinosis
  • rs139261571Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis|Seizure
  • rs143578698Conflicting interpretationssingle nucleotide variantAdult neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Seizure|Neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
  • rs143781303Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs144507672Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs145247814Conflicting interpretationssingle nucleotide variantSeizure|Neuronal ceroid lipofuscinosis
  • rs146135801Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs146980624Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs149692285Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Agenesis of the corpus callosum with peripheral neuropathy
  • rs154774634Conflicting interpretationssingle nucleotide variantCeroid lipofuscinosis, neuronal, 6A|Neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
  • rs368661456Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs571940397Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs779456928Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis
  • rs104894483Pathogenicsingle nucleotide variantCeroid lipofuscinosis, neuronal, 6A|Seizure|Neuronal ceroid lipofuscinosis
  • rs154774640Pathogenicsingle nucleotide variantCeroid lipofuscinosis, neuronal, 6A|Neuronal ceroid lipofuscinosis
  • rs202226970Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis

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.