Apert syndrome: genes and variants
Explore variant evidence for Apert syndrome across 1 analyzed protein (FGFR2). Linked ClinVar records include 6 pathogenic or likely pathogenic variants, 11 variants of uncertain significance and 6 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 Apert syndrome
FGFR2: Fibroblast growth factor receptor 2
Its fibroblast-growth-factor signaling regulates proliferation, differentiation, and developmental patterning across multiple tissues. Germline activating variants cause several craniosynostosis syndromes, while somatic mutations, amplification, or fusions can drive cancer.
6 ClinVar pathogenic / likely pathogenic and 17 uncertain variants in FGFR2 have source records linked to Apert syndrome. Association strength is not clinical gene validity.
Where Apert syndrome variants cluster
- FGFR2 Extracellular (positions 22–377): 5 of 6 ClinVar pathogenic / likely pathogenic variants, 1.9× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Apert syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 S354F | 354 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 S239F | 239 | Ig-like C2-type 2 | Pathogenic / likely pathogenic (★★) |
| FGFR2 S24F | 24 | Extracellular | Pathogenic / likely pathogenic (★) |
| FGFR2 S252F | 252 | Extracellular | Pathogenic / likely pathogenic (★) |
| FGFR2 Y656H | 656 | Protein kinase | Pathogenic / likely pathogenic (★) |
| FGFR2 P253F | 253 | Extracellular | Pathogenic / likely pathogenic |
Same protein, different disease
- FGFR2-related craniosynostosis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Apert syndrome variants (54 pathogenic / likely pathogenic).
- Crouzon disease also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Apert syndrome variants (22 pathogenic / likely pathogenic).
- Pfeiffer syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Apert syndrome variants (13 pathogenic / likely pathogenic).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Apert syndrome variants (5 pathogenic / likely pathogenic).
- Common craniosynostosis syndromes also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Apert syndrome variants (5 pathogenic / likely pathogenic).
Diseases related to Apert syndrome
- FGFR2-related craniosynostosis, also linked to FGFR2
- Pfeiffer syndrome, also linked to FGFR2
- Crouzon disease, also linked to FGFR2
- Colorectal cancer, also linked to FGFR2
- Gastric cancer, also linked to FGFR2
- Bilateral sensorineural hearing impairment, also linked to FGFR2
- Jackson-Weiss syndrome, also linked to FGFR2
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, also linked to FGFR2
- Common craniosynostosis syndromes, also linked to FGFR2
- LADD syndrome, also linked to FGFR2
- Saethre-Chotzen syndrome, also linked to FGFR2
- Beare-Stevenson cutis gyrata syndrome, also linked to FGFR2
Frequently asked questions
Which genes have records linked to Apert syndrome?
This view contains 1 analyzed proteins: FGFR2. 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 6 pathogenic or likely pathogenic variants, 11 variants of uncertain significance and 6 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 28 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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