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Gene entry

BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

Chromosome
11
Cytoband
11q12.3
Variants (rsID)
17

BSCL2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q12.3). Its official name is “BSCL2 lipid droplet biogenesis associated, seipin”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs145649423Benignsingle nucleotide variantCongenital generalized lipodystrophy type 2|Neuronopathy, distal hereditary motor, type 5A|Monogenic diabetes|Charcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia
  • rs185341934Benignsingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Congenital generalized lipodystrophy type 2|Monogenic diabetes|Charcot-Marie-Tooth disease type 2
  • rs3763853Benignsingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Congenital generalized lipodystrophy type 2|Charcot-Marie-Tooth disease type 2
  • rs6856Benignsingle nucleotide variantNeuronopathy, distal hereditary motor, type 5A|Congenital generalized lipodystrophy type 2|Charcot-Marie-Tooth disease type 2|Severe neurodegenerative syndrome with lipodystrophy|Hereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5C|Hereditary spastic paraplegia
  • rs72929419Benignsingle nucleotide variant
  • rs10776Conflicting interpretationssingle nucleotide variantCongenital generalized lipodystrophy type 2|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2
  • rs144245125Conflicting interpretationssingle nucleotide variantNeurologic Disorders/Seipinopathy|Congenital generalized lipodystrophy|Charcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia
  • rs369806785Conflicting interpretationssingle nucleotide variantCongenital generalized lipodystrophy type 2|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia
  • rs137852972Pathogenicsingle nucleotide variantHereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Neuronopathy, distal hereditary motor, type 5C|Peripheral neuropathy|Hereditary spastic paraplegia
  • rs137852973Pathogenicsingle nucleotide variantHereditary spastic paraplegia 17|Charcot-Marie-Tooth disease type 2|Neuronopathy, distal hereditary motor, type 5A|Hereditary spastic paraplegia 17|Neuronopathy, distal hereditary motor, type 5C|Abnormal central motor function
  • rs137852975Pathogenicsingle nucleotide variantCongenital generalized lipodystrophy type 2|Charcot-Marie-Tooth disease type 2
  • rs190842600Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2|Hereditary spastic paraplegia
  • rs201229787Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2
  • rs367731146Uncertain significancesingle nucleotide 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.