Sweet syndrome: genes and variants
Explore variant evidence for Sweet syndrome across 1 analyzed protein (MEFV). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 73 variants of uncertain significance and 126 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Sweet syndrome
MEFV: Pyrin
Its pyrin inflammasome senses disruptions of cytoskeletal regulation and can activate IL-1beta-dependent inflammation. Pathogenic variants cause familial Mediterranean fever, with recurrent attacks of fever and serosal or joint inflammation.
4 ClinVar pathogenic / likely pathogenic and 199 uncertain variants in MEFV have source records linked to Sweet syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Sweet syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MEFV S242R | 242 | Pathogenic / likely pathogenic (★★) | |
| MEFV V726A | 726 | B30.2/SPRY | Pathogenic / likely pathogenic (★★) |
| MEFV R761H | 761 | B30.2/SPRY | Pathogenic / likely pathogenic (★★) |
| MEFV E244K | 244 | Pathogenic / likely pathogenic |
Same protein, different disease
- Familial Mediterranean fever also has ClinVar records linked to MEFV variants; they fall mostly in different places as the Sweet syndrome variants (6 pathogenic / likely pathogenic).
Diseases related to Sweet syndrome
- Autoinflammatory syndrome, also linked to MEFV
- Familial Mediterranean fever, also linked to MEFV
- Behcet disease, also linked to MEFV
Frequently asked questions
Which genes have records linked to Sweet syndrome?
This view contains 1 analyzed proteins: MEFV. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 4 pathogenic or likely pathogenic variants, 73 variants of uncertain significance and 126 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 214 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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