BBS2-related ciliopathy: genes and variants
BBS2-related ciliopathy is linked to 1 analyzed protein (BBS2). 3 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to BBS2-related ciliopathy
BBS2: BBSome complex member BBS2
It contributes to BBSome assembly and ciliary cargo trafficking, which are required for signaling in photoreceptors, kidney, hypothalamus, and other tissues. Biallelic loss-of-function variants cause Bardet-Biedl syndrome.
3 disease-causing and 1 uncertain variants in BBS2 are linked to BBS2-related ciliopathy.
Known disease-causing variants in BBS2-related ciliopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BBS2 P134R | 134 | Disease-causing (★★) | |
| BBS2 V75G | 75 | Disease-causing (★★) | |
| BBS2 Y317C | 317 | Disease-causing (★★) |
Same protein, different disease
- Bardet-Biedl syndrome is also caused by BBS2 variants; they fall mostly in different places as the BBS2-related ciliopathy variants (19 disease-causing).
- Retinitis pigmentosa is also caused by BBS2 variants; they fall mostly in different places as the BBS2-related ciliopathy variants (8 disease-causing).
Diseases related to BBS2-related ciliopathy
- Retinitis pigmentosa, also linked to BBS2
- Bardet-Biedl syndrome, also linked to BBS2
Frequently asked questions
Which genes are linked to BBS2-related ciliopathy?
In CATVariant, BBS2-related ciliopathy is linked to 1 analyzed protein: BBS2 (BBSome complex member BBS2).
How many genetic variants are linked to BBS2-related ciliopathy?
5 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in BBS2-related ciliopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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