Uveal coloboma-cleft lip and palate-intellectual disability: genes and variants
Uveal coloboma-cleft lip and palate-intellectual disability is linked to 1 analyzed protein (YAP1). 1 DNA variants are known to cause it; 6 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: Uveal coloboma - cleft lip and palate - intellectual disability
Genes linked to Uveal coloboma-cleft lip and palate-intellectual disability
YAP1: Transcriptional coactivator YAP1
When Hippo signaling permits nuclear accumulation, it integrates mechanical, polarity, and growth cues to control proliferation, survival, and organ size. Persistent nuclear YAP activity contributes to many cancers, while germline loss-of-function variants can cause developmental eye abnormalities.
1 disease-causing and 6 uncertain variants in YAP1 are linked to Uveal coloboma-cleft lip and palate-intellectual disability.
Known disease-causing variants in Uveal coloboma-cleft lip and palate-intellectual disability
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| YAP1 M86T | 86 | Coiled coil | Disease-causing (★) |
Diseases related to Uveal coloboma-cleft lip and palate-intellectual disability
- Multiple myeloma, also linked to YAP1
Frequently asked questions
Which genes are linked to Uveal coloboma-cleft lip and palate-intellectual disability?
In CATVariant, Uveal coloboma-cleft lip and palate-intellectual disability is linked to 1 analyzed protein: YAP1 (Transcriptional coactivator YAP1).
How many genetic variants are linked to Uveal coloboma-cleft lip and palate-intellectual disability?
9 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Uveal coloboma-cleft lip and palate-intellectual disability 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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