CD52 — 13 ClinVar variants
All ClinVar germline CD52 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Benign · 2 Likely benign · 9 Uncertain significance
Full CD52 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All CD52 variants
Benign 2
- p.Asn40Ser No assertion criteria CD52-related disorder
- p.Ile41Met No assertion criteria CD52-related disorder ⚠
Likely benign 2
- p.Cys59Tyr Single submitter
- p.Phe4= No assertion criteria CD52-related disorder
Uncertain significance 9
- p.Arg3Cys Single submitter ⚠
- p.Cys59Gly Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Ile11Val Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Met16Thr Single submitter ⚠
- p.Val15Leu Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Val50Met Single submitter ⚠