Capillary malformation-arteriovenous malformation syndrome: genes and variants
Capillary malformation-arteriovenous malformation syndrome is linked to 1 analyzed protein (RASA1). 1 DNA variants are known to cause it; 449 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 Capillary malformation-arteriovenous malformation syndrome
RASA1: Ras GTPase-activating protein 1
It accelerates hydrolysis of RAS-GTP and therefore limits RAS-MAPK signaling downstream of growth-factor receptors. Haploinsufficiency causes capillary malformation-arteriovenous malformation syndrome and related fast-flow vascular anomalies.
1 disease-causing and 449 uncertain variants in RASA1 are linked to Capillary malformation-arteriovenous malformation syndrome.
Known disease-causing variants in Capillary malformation-arteriovenous malformation syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RASA1 R789Q | 789 | Ras-GAP | Disease-causing (★) |
Diseases related to Capillary malformation-arteriovenous malformation syndrome
- Angioosteohypertrophic syndrome, also linked to RASA1
- Capillary malformation-arteriovenous malformation 1, also linked to RASA1
Frequently asked questions
Which genes are linked to Capillary malformation-arteriovenous malformation syndrome?
In CATVariant, Capillary malformation-arteriovenous malformation syndrome is linked to 1 analyzed protein: RASA1 (Ras GTPase-activating protein 1).
How many genetic variants are linked to Capillary malformation-arteriovenous malformation syndrome?
496 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 449 are of uncertain significance or have conflicting reports.
Which uncertain variants in Capillary malformation-arteriovenous malformation 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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