Severe achondroplasia - developmental delay - acanthosis nigricans: genes and variants
Explore variant evidence for Severe achondroplasia - developmental delay - acanthosis nigricans across 1 analyzed protein (FGFR3). Linked ClinVar records include 5 pathogenic or likely pathogenic variants, 5 variants of uncertain significance and 0 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.
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Genes linked to Severe achondroplasia - developmental delay - acanthosis nigricans
FGFR3: Fibroblast growth factor receptor 3
It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.
5 ClinVar pathogenic / likely pathogenic and 5 uncertain variants in FGFR3 have source records linked to Severe achondroplasia - developmental delay - acanthosis nigricans. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Severe achondroplasia - developmental delay - acanthosis nigricans
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR3 R248C | 248 | Extracellular | Pathogenic / likely pathogenic (★★★★) |
| FGFR3 K650N | 650 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| FGFR3 G380R | 380 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| FGFR3 S84L | 84 | Ig-like C2-type 1 | Pathogenic / likely pathogenic (★★) |
| FGFR3 G370C | 370 | Extracellular | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- FGFR3-related chondrodysplasia also has ClinVar records linked to FGFR3 variants; they fall mostly in different places as the Severe achondroplasia - developmental delay - acanthosis nigricans variants (20 pathogenic / likely pathogenic).
- Hypochondroplasia also has ClinVar records linked to FGFR3 variants; they fall mostly in different places as the Severe achondroplasia - developmental delay - acanthosis nigricans variants (15 pathogenic / likely pathogenic).
- Achondroplasia also has ClinVar records linked to FGFR3 variants; they fall partly in the same places as the Severe achondroplasia - developmental delay - acanthosis nigricans variants (9 pathogenic / likely pathogenic).
- Thanatophoric dysplasia also has ClinVar records linked to FGFR3 variants; they fall partly in the same places as the Severe achondroplasia - developmental delay - acanthosis nigricans variants (8 pathogenic / likely pathogenic).
- Urinary bladder cancer also has ClinVar records linked to FGFR3 variants; they fall mostly in different places as the Severe achondroplasia - developmental delay - acanthosis nigricans variants (3 pathogenic / likely pathogenic).
Diseases related to Severe achondroplasia - developmental delay - acanthosis nigricans
- Connective tissue disease, also linked to FGFR3
- FGFR3-related chondrodysplasia, also linked to FGFR3
- Colorectal cancer, also linked to FGFR3
- Urinary bladder cancer, also linked to FGFR3
- Hypochondroplasia, also linked to FGFR3
- Colon carcinoma, also linked to FGFR3
- Achondroplasia, also linked to FGFR3
- Thanatophoric dysplasia, also linked to FGFR3
- Common craniosynostosis syndromes, also linked to FGFR3
- LADD syndrome, also linked to FGFR3
- Epidermal nevus, also linked to FGFR3
- Renal cell carcinoma, also linked to FGFR3
Frequently asked questions
Which genes have records linked to Severe achondroplasia - developmental delay - acanthosis nigricans?
This view contains 1 analyzed proteins: FGFR3. 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 5 pathogenic or likely pathogenic variants, 5 variants of uncertain significance and 0 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 18 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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