Osteochondrodysplasia: genes and variants
Explore variant evidence for Osteochondrodysplasia across 2 analyzed proteins (SLC26A2, COL1A1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 0 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 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Osteochondrodysplasia
SLC26A2: Sulfate transporter
A sulfate transporter that supplies chondrocytes with sulfate for cartilage proteoglycan production. Variants cause a spectrum of skeletal disorders, including diastrophic dysplasia.
3 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in SLC26A2 have source records linked to Osteochondrodysplasia. Association strength is not clinical gene validity.
COL1A1: Collagen alpha-1(I) chain
The alpha-1 chain of type I collagen, the main fibrillar collagen in connective tissue, bone, and skin. Together with its partner chain, it forms strong extracellular fibers, and COL1A1 variants are associated with osteogenesis imperfecta and several Ehlers-Danlos syndromes.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in COL1A1 have source records linked to Osteochondrodysplasia. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Osteochondrodysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC26A2 Q454P | 454 | Pathogenic / likely pathogenic (★★) | |
| SLC26A2 T512K | 512 | Pathogenic / likely pathogenic (★★) | |
| SLC26A2 G678V | 678 | STAS | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- Diastrophic dysplasia also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Osteochondrodysplasia variants (16 pathogenic / likely pathogenic).
- Achondrogenesis type II also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Osteochondrodysplasia variants (14 pathogenic / likely pathogenic).
- Multiple epiphyseal dysplasia also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Osteochondrodysplasia variants (12 pathogenic / likely pathogenic).
- Atelosteogenesis type II also has ClinVar records linked to SLC26A2 variants; they fall mostly in different places as the Osteochondrodysplasia variants (11 pathogenic / likely pathogenic).
Diseases related to Osteochondrodysplasia
- Connective tissue disease, also linked to COL1A1 and SLC26A2
- Osteogenesis imperfecta, also linked to COL1A1
- Ehlers-Danlos syndrome, classic type, 1, also linked to COL1A1
- Ehlers-Danlos syndrome, also linked to COL1A1
- Osteogenesis imperfecta, perinatal lethal, also linked to COL1A1
- Osteogenesis imperfecta with normal sclerae, dominant form, also linked to COL1A1
- Achondrogenesis type II, also linked to SLC26A2
- Multiple epiphyseal dysplasia, also linked to SLC26A2
- Phenylketonuria, also linked to COL1A1
- Ehlers-Danlos syndrome, arthrochalasia type, also linked to COL1A1
- Atelosteogenesis type II, also linked to SLC26A2
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, also linked to COL1A1
Frequently asked questions
Which genes have records linked to Osteochondrodysplasia?
This view contains 2 analyzed proteins: SLC26A2, COL1A1. 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 3 pathogenic or likely pathogenic variants, 0 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 5 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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