Marshall syndrome: genes and variants
Explore variant evidence for Marshall syndrome across 1 analyzed protein (COL11A1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 14 variants of uncertain significance and 14 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. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Marshall syndrome
COL11A1: Collagen alpha-1(XI) chain
A chain of type XI collagen, an extracellular-matrix protein found in cartilage and the eye. Variants can cause Stickler or Marshall syndrome.
3 ClinVar pathogenic / likely pathogenic and 28 uncertain variants in COL11A1 have source records linked to Marshall syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Marshall syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL11A1 G901E | 901 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL11A1 G727R | 727 | Triple-helical region | Pathogenic / likely pathogenic |
| COL11A1 G676R | 676 | Collagen-like 5 | Pathogenic / likely pathogenic |
Same protein, different disease
- Stickler syndrome also has ClinVar records linked to COL11A1 variants; they fall mostly in different places as the Marshall syndrome variants (14 pathogenic / likely pathogenic).
- Fibrochondrogenesis also has ClinVar records linked to COL11A1 variants; they fall mostly in different places as the Marshall syndrome variants (5 pathogenic / likely pathogenic).
- Hearing loss also has ClinVar records linked to COL11A1 variants; they fall mostly in different places as the Marshall syndrome variants (3 pathogenic / likely pathogenic).
Diseases related to Marshall syndrome
- Autosomal dominant nonsyndromic hearing loss, also linked to COL11A1
- Stickler syndrome, also linked to COL11A1
- Hearing loss, also linked to COL11A1
- Connective tissue disease, also linked to COL11A1
- Monogenic hearing loss, also linked to COL11A1
- Autism, also linked to COL11A1
- Fibrochondrogenesis, also linked to COL11A1
- Sensorineural hearing loss, also linked to COL11A1
Frequently asked questions
Which genes have records linked to Marshall syndrome?
This view contains 1 analyzed proteins: COL11A1. 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, 14 variants of uncertain significance and 14 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 38 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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