X-linked lymphoproliferative disease: genes and variants
Explore variant evidence for X-linked lymphoproliferative disease across 2 analyzed proteins (SH2D1A, XIAP). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 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 X-linked lymphoproliferative disease
SH2D1A: SH2 domain-containing protein 1A
It coordinates signaling through SLAM-family immune receptors and is essential for normal T-cell and natural-killer-cell responses to Epstein-Barr virus. Loss-of-function variants cause X-linked lymphoproliferative disease type 1, with fulminant EBV-associated immune dysregulation.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in SH2D1A have source records linked to X-linked lymphoproliferative disease. Association strength is not clinical gene validity.
XIAP: E3 ubiquitin-protein ligase XIAP
It directly restrains caspases and also participates in innate immune signaling, thereby controlling apoptosis and inflammatory responses. Loss-of-function variants cause X-linked lymphoproliferative syndrome type 2, with hemophagocytic lymphohistiocytosis, inflammatory bowel disease, and recurrent hyperinflammation.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in XIAP have source records linked to X-linked lymphoproliferative disease. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to X-linked lymphoproliferative disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SH2D1A Y7C | 7 | SH2 | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- X-linked lymphoproliferative disease due to SH2D1A deficiency also has ClinVar records linked to SH2D1A variants; they fall mostly in different places as the X-linked lymphoproliferative disease variants (7 pathogenic / likely pathogenic).
Diseases related to X-linked lymphoproliferative disease
- Autoinflammatory syndrome, also linked to SH2D1A and XIAP
- X-linked lymphoproliferative disease due to SH2D1A deficiency, also linked to SH2D1A
- X-linked lymphoproliferative disease due to XIAP deficiency, also linked to XIAP
Frequently asked questions
Which genes have records linked to X-linked lymphoproliferative disease?
This view contains 2 analyzed proteins: SH2D1A, XIAP. 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 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 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 115 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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