Crouzon disease: genes and variants
Explore variant evidence for Crouzon disease across 1 analyzed protein (FGFR2). Linked ClinVar records include 22 pathogenic or likely pathogenic variants, 35 variants of uncertain significance and 10 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 Crouzon disease
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.
22 ClinVar pathogenic / likely pathogenic and 45 uncertain variants in FGFR2 have source records linked to Crouzon disease. Association strength is not clinical gene validity.
Where Crouzon disease variants cluster
- FGFR2 Ig-like C2-type 3 (positions 256–358): 16 of 22 ClinVar pathogenic / likely pathogenic variants, 5.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Crouzon disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 W290R | 290 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 W290G | 290 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 Y105C | 105 | Ig-like C2-type 1 | Pathogenic / likely pathogenic (★★) |
| FGFR2 C278F | 278 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 D336G | 336 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 A337P | 337 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 G338R | 338 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 C342S | 342 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 C342Y | 342 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 S252W | 252 | Extracellular | Pathogenic / likely pathogenic (★★) |
| FGFR2 G271V | 271 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 F276V | 276 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 Y281C | 281 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 Y308C | 308 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 L357S | 357 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 G384R | 384 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| FGFR2 A109P | 109 | Ig-like C2-type 1 | Pathogenic / likely pathogenic (★★) |
| FGFR2 G272R | 272 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 N549H | 549 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| FGFR2 G182V | 182 | Ig-like C2-type 2 | Pathogenic / likely pathogenic (★★) |
| FGFR2 Y328C | 328 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★★) |
| FGFR2 W290S | 290 | Ig-like C2-type 3 | Pathogenic / likely pathogenic (★) |
Which prediction tools work for Crouzon disease
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 94 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 91 out of 100
Same protein, different disease
- FGFR2-related craniosynostosis also has ClinVar records linked to FGFR2 variants; they fall partly in the same places as the Crouzon disease variants (54 pathogenic / likely pathogenic).
- Pfeiffer syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Crouzon disease variants (13 pathogenic / likely pathogenic).
- Apert syndrome also has ClinVar records linked to FGFR2 variants; they fall partly in the same places as the Crouzon disease variants (6 pathogenic / likely pathogenic).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis also has ClinVar records linked to FGFR2 variants; they fall partly in the same places as the Crouzon disease variants (5 pathogenic / likely pathogenic).
- LADD syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the Crouzon disease variants (5 pathogenic / likely pathogenic).
Diseases related to Crouzon disease
- FGFR2-related craniosynostosis, also linked to FGFR2
- Pfeiffer syndrome, 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
- Apert syndrome, 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 Crouzon disease?
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 22 pathogenic or likely pathogenic variants, 35 variants of uncertain significance and 10 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 89 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center