Xeroderma pigmentosum variant type: genes and variants
Explore variant evidence for Xeroderma pigmentosum variant type across 1 analyzed protein (POLH). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 26 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. 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 Xeroderma pigmentosum variant type
POLH: DNA polymerase eta
DNA polymerase eta bypasses UV-induced DNA lesions during translesion synthesis. Deficiency causes the variant form of xeroderma pigmentosum.
2 ClinVar pathogenic / likely pathogenic and 35 uncertain variants in POLH have source records linked to Xeroderma pigmentosum variant type. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Xeroderma pigmentosum variant type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POLH T191P | 191 | UmuC | Pathogenic / likely pathogenic (★★) |
| POLH G263V | 263 | Pathogenic / likely pathogenic (★) |
Diseases related to Xeroderma pigmentosum variant type
- Xeroderma pigmentosum, also linked to POLH
Frequently asked questions
Which genes have records linked to Xeroderma pigmentosum variant type?
This view contains 1 analyzed proteins: POLH. 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 2 pathogenic or likely pathogenic variants, 26 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 65 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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