Glycogen storage disorder due to hepatic glycogen synthase deficiency: genes and variants
Explore variant evidence for Glycogen storage disorder due to hepatic glycogen synthase deficiency across 1 analyzed protein (GYS2). Linked ClinVar records include 5 pathogenic or likely pathogenic variants, 46 variants of uncertain significance and 8 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.
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Genes linked to Glycogen storage disorder due to hepatic glycogen synthase deficiency
GYS2: Glycogen [starch] synthase, liver
The liver form of glycogen synthase, which adds glucose units during glycogen production. Variants cause hepatic glycogen storage disease type 0.
5 ClinVar pathogenic / likely pathogenic and 54 uncertain variants in GYS2 have source records linked to Glycogen storage disorder due to hepatic glycogen synthase deficiency. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Glycogen storage disorder due to hepatic glycogen synthase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GYS2 P479Q | 479 | Pathogenic / likely pathogenic (★★) | |
| GYS2 A339P | 339 | Pathogenic / likely pathogenic (★★) | |
| GYS2 M491R | 491 | Pathogenic / likely pathogenic (★★) | |
| GYS2 N39S | 39 | Pathogenic / likely pathogenic (★★) | |
| GYS2 S483P | 483 | Pathogenic / likely pathogenic |
Diseases related to Glycogen storage disorder due to hepatic glycogen synthase deficiency
- Glycogen storage disease, also linked to GYS2
Frequently asked questions
Which genes have records linked to Glycogen storage disorder due to hepatic glycogen synthase deficiency?
This view contains 1 analyzed proteins: GYS2. 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, 46 variants of uncertain significance and 8 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 89 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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