Hereditary vascular retinopathy: genes and variants
Explore variant evidence for Hereditary vascular retinopathy across 1 analyzed protein (TREX1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 241 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. 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 Hereditary vascular retinopathy
TREX1: Three-prime repair exonuclease 1
It degrades aberrant cytosolic DNA and prevents inappropriate activation of the cGAS-STING interferon pathway. Pathogenic variants cause interferon-mediated diseases including Aicardi-Goutieres syndrome and familial chilblain lupus, and certain alleles cause retinal vasculopathy with cerebral leukoencephalopathy.
3 ClinVar pathogenic / likely pathogenic and 249 uncertain variants in TREX1 have source records linked to Hereditary vascular retinopathy. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Hereditary vascular retinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TREX1 R114H | 114 | Pathogenic / likely pathogenic (★★★★) | |
| TREX1 D18N | 18 | Pathogenic / likely pathogenic (★★) | |
| TREX1 D200N | 200 | Pathogenic / likely pathogenic (★) |
Diseases related to Hereditary vascular retinopathy
- Fetal anomalies with a likely genetic cause, also linked to TREX1
- Aicardi-Goutieres syndrome, also linked to TREX1
- Systemic lupus erythematosus, also linked to TREX1
- Chilblain lupus, also linked to TREX1
Frequently asked questions
Which genes have records linked to Hereditary vascular retinopathy?
This view contains 1 analyzed proteins: TREX1. 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, 241 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 276 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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