Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CLN5

CLN5 lysosomal BMP synthase

Chromosome
13
Cytoband
13q22.3
Variants (rsID)
23

CLN5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q22.3). Its official name is “CLN5 lysosomal BMP synthase”. The reference table lists 23 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1800209Benignsingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis 5|Seizure|Neuronal ceroid lipofuscinosis
  • rs34481987Benignsingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis|Seizure|Neuronal ceroid lipofuscinosis 5
  • rs7987664Benignsingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs9573974Benignsingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis 5
  • rs138611001Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Seizure|Neuronal ceroid lipofuscinosis
  • rs146993892Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5
  • rs200353554Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Seizure|Neuronal ceroid lipofuscinosis
  • rs28940280Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs386833968Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs587780896Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5
  • rs61504484Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs751496223Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5
  • rs772501269Conflicting interpretationssingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs121908292Likely pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 5
  • rs386833964PathogenicMicrosatelliteNeuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs386833980Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 5|Neuronal ceroid lipofuscinosis
  • rs199609750Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5
  • rs201464545Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5
  • rs41287036Uncertain significancesingle nucleotide variantNeuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5

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.