Gaucher disease - ophthalmoplegia - cardiovascular calcification: genes and variants
Explore variant evidence for Gaucher disease - ophthalmoplegia - cardiovascular calcification across 1 analyzed protein (GBA1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 4 variants of uncertain significance and 9 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 Gaucher disease - ophthalmoplegia - cardiovascular calcification
GBA1: Lysosomal acid glucosylceramidase
It degrades glucosylceramide within lysosomes and is essential for normal sphingolipid turnover. Biallelic pathogenic variants cause Gaucher disease, while heterozygous pathogenic variants are among the strongest genetic risk factors for Parkinson disease.
3 ClinVar pathogenic / likely pathogenic and 13 uncertain variants in GBA1 have source records linked to Gaucher disease - ophthalmoplegia - cardiovascular calcification. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Gaucher disease - ophthalmoplegia - cardiovascular calcification
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GBA1 R502H | 502 | Pathogenic / likely pathogenic (★★) | |
| GBA1 F255Y | 255 | Pathogenic / likely pathogenic (★★) | |
| GBA1 S235P | 235 | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- Gaucher disease also has ClinVar records linked to GBA1 variants; they fall mostly in different places as the Gaucher disease - ophthalmoplegia - cardiovascular calcification variants (132 pathogenic / likely pathogenic).
- Parkinson disease also has ClinVar records linked to GBA1 variants; they fall mostly in different places as the Gaucher disease - ophthalmoplegia - cardiovascular calcification variants (8 pathogenic / likely pathogenic).
- Lewy body dementia also has ClinVar records linked to GBA1 variants; they fall mostly in different places as the Gaucher disease - ophthalmoplegia - cardiovascular calcification variants (6 pathogenic / likely pathogenic).
- Gaucher disease perinatal lethal also has ClinVar records linked to GBA1 variants; they fall mostly in different places as the Gaucher disease - ophthalmoplegia - cardiovascular calcification variants (5 pathogenic / likely pathogenic).
Diseases related to Gaucher disease - ophthalmoplegia - cardiovascular calcification
- Gaucher disease, also linked to GBA1
- Parkinson disease, also linked to GBA1
- Lewy body dementia, also linked to GBA1
- Gaucher disease perinatal lethal, also linked to GBA1
Frequently asked questions
Which genes have records linked to Gaucher disease - ophthalmoplegia - cardiovascular calcification?
This view contains 1 analyzed proteins: GBA1. 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, 4 variants of uncertain significance and 9 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 17 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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