Central core disease: genes and variants
Explore variant evidence for Central core disease across 1 analyzed protein (RYR1). Linked ClinVar records include 8 pathogenic or likely pathogenic variants, 31 variants of uncertain significance and 3 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 Central core disease
RYR1: Ryanodine receptor 1
It releases calcium from the skeletal-muscle sarcoplasmic reticulum when Cav1.1 senses membrane depolarization, directly coupling excitation to contraction. Pathogenic variants cause malignant-hyperthermia susceptibility and a broad spectrum of congenital RYR1-related myopathies.
8 ClinVar pathogenic / likely pathogenic and 34 uncertain variants in RYR1 have source records linked to Central core disease. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Central core disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RYR1 R4893L | 4893 | Pore-forming | Pathogenic / likely pathogenic (★★) |
| RYR1 Q4203R | 4203 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| RYR1 G4935D | 4935 | Transmembrane | Pathogenic / likely pathogenic (★) |
| RYR1 A2428S | 2428 | 6 X approximate repeats | Pathogenic / likely pathogenic (★) |
| RYR1 C3304R | 3304 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| RYR1 G4743V | 4743 | Cytoplasmic | Pathogenic / likely pathogenic (★) |
| RYR1 T4920P | 4920 | Lumenal | Pathogenic / likely pathogenic (★) |
| RYR1 H4813R | 4813 | Transmembrane | Pathogenic / likely pathogenic |
Same protein, different disease
- RYR1-related myopathy also has ClinVar records linked to RYR1 variants; they fall mostly in different places as the Central core disease variants (3 pathogenic / likely pathogenic).
- Centronuclear myopathy also has ClinVar records linked to RYR1 variants; they fall mostly in different places as the Central core disease variants (3 pathogenic / likely pathogenic).
Diseases related to Central core disease
- Fetal akinesia deformation sequence, also linked to RYR1
- Congenital fiber-type disproportion myopathy, also linked to RYR1
- Myopathy, also linked to RYR1
- King Denborough syndrome, also linked to RYR1
- Centronuclear myopathy, also linked to RYR1
- RYR1-related myopathy, also linked to RYR1
- Arthrogryposis multiplex congenita, also linked to RYR1
- Congenital multicore myopathy with external ophthalmoplegia, also linked to RYR1
Frequently asked questions
Which genes have records linked to Central core disease?
This view contains 1 analyzed proteins: RYR1. 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 8 pathogenic or likely pathogenic variants, 31 variants of uncertain significance and 3 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 95 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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