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Gene entry

BBS2

Bardet-Biedl syndrome 2

Chromosome
16
Cytoband
16q13
Variants (rsID)
28

BBS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q13). Its official name is “Bardet-Biedl syndrome 2”. The reference table lists 28 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs11373Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome 1|Retinitis pigmentosa 74
  • rs150797250Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 2
  • rs115328064Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 2
  • rs117033008Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 2
  • rs121908178Conflicting interpretationssingle nucleotide variantBardet-biedl syndrome 2/4, digenic|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome|Autosomal recessive retinitis pigmentosa
  • rs41280892Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 1|Bardet-Biedl syndrome
  • rs121908174Pathogenicsingle nucleotide variantBardet-Biedl syndrome 2|Bardet-Biedl syndrome
  • rs121908175Pathogenicsingle nucleotide variantBardet-biedl syndrome 2/6, digenic|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Retinitis pigmentosa 74|Retinitis pigmentosa|Retinal dystrophy
  • rs121908177Pathogenicsingle nucleotide variantBardet-Biedl syndrome 2|Bardet-Biedl syndrome|Retinitis pigmentosa 74|Bardet-Biedl syndrome 2|Retinal dystrophy
  • rs121908179Pathogenicsingle nucleotide variantBardet-biedl syndrome 1/2, digenic|Retinitis pigmentosa 74|Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome 2|Retinitis pigmentosa 74|Retinitis pigmentosa
  • rs138043021Pathogenicsingle nucleotide variantBardet-Biedl syndrome 2|Retinitis pigmentosa 74|BBS2-Related Disorders|Bardet-Biedl syndrome|Retinitis pigmentosa|Retinal dystrophy
  • rs193922710Pathogenicsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 2
  • rs193922711PathogenicDeletionBardet-Biedl syndrome|Bardet-Biedl syndrome 2
  • rs201196733Pathogenicsingle nucleotide variantBardet-Biedl syndrome 2|Bardet-Biedl syndrome
  • rs587777824PathogenicDeletionBardet-Biedl syndrome 2
  • rs200021475Uncertain significancesingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 2

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.