Familial osteochondritis dissecans: genes and variants
Explore variant evidence for Familial osteochondritis dissecans across 1 analyzed protein (ACAN). Linked ClinVar records include 4 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 1 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 Familial osteochondritis dissecans
ACAN: Aggrecan core protein
Its highly charged glycosaminoglycan-rich structure enables cartilage to retain water and resist compressive forces, making it essential for growth-plate and articular-cartilage mechanics. Pathogenic variants can cause short-stature and skeletal-dysplasia phenotypes, including spondyloepimetaphyseal dysplasia and familial osteochondritis dissecans.
4 ClinVar pathogenic / likely pathogenic and 14 uncertain variants in ACAN have source records linked to Familial osteochondritis dissecans. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Familial osteochondritis dissecans
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACAN D2381N | 2381 | C-type lectin | Pathogenic / likely pathogenic (★★) |
| ACAN L302P | 302 | Link 2 | Pathogenic / likely pathogenic (★) |
| ACAN V2417M | 2417 | C-type lectin | Pathogenic / likely pathogenic (★) |
| ACAN L2355P | 2355 | C-type lectin | Pathogenic / likely pathogenic |
Diseases related to Familial osteochondritis dissecans
- Monogenic short statue, also linked to ACAN
- Spondyloepimetaphyseal dysplasia, aggrecan type, also linked to ACAN
Frequently asked questions
Which genes have records linked to Familial osteochondritis dissecans?
This view contains 1 analyzed proteins: ACAN. 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, 13 variants of uncertain significance and 1 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 44 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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