Mosaic variegated aneuploidy syndrome: genes and variants
Mosaic variegated aneuploidy syndrome is linked to 1 analyzed protein (BUB1B). 1 DNA variants are known to cause it; 466 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: mosaic variegated aneuploidy syndrome 1
Genes linked to Mosaic variegated aneuploidy syndrome
BUB1B: Mitotic checkpoint serine/threonine-protein kinase BUB1 beta
It enforces the spindle-assembly checkpoint and helps ensure that chromosomes are correctly attached before anaphase begins. Biallelic hypomorphic variants cause mosaic variegated aneuploidy syndrome, with growth abnormalities, developmental impairment, and elevated childhood cancer risk.
1 disease-causing and 466 uncertain variants in BUB1B are linked to Mosaic variegated aneuploidy syndrome.
Known disease-causing variants in Mosaic variegated aneuploidy syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BUB1B Q467H | 467 | Disease-causing (★) |
Diseases related to Mosaic variegated aneuploidy syndrome
- Ovarian cancer, also linked to BUB1B
- Colorectal cancer, also linked to BUB1B
Frequently asked questions
Which genes are linked to Mosaic variegated aneuploidy syndrome?
In CATVariant, Mosaic variegated aneuploidy syndrome is linked to 1 analyzed protein: BUB1B (Mitotic checkpoint serine/threonine-protein kinase BUB1 beta).
How many genetic variants are linked to Mosaic variegated aneuploidy syndrome?
504 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 466 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mosaic variegated aneuploidy syndrome 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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