CD93 — 133 ClinVar variants
All ClinVar germline CD93 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
8 Benign · 14 Likely benign · 111 Uncertain significance
Full CD93 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD93 p.Ala24Pro Uncertain significance Single submitter
- CD93 p.Ala35Pro Uncertain significance Single submitter
- CD93 p.Ala525Thr Uncertain significance Single submitter
- CD93 p.Ala85Val Uncertain significance Single submitter
- CD93 p.Arg312His Uncertain significance Single submitter
- CD93 p.Arg312Ser Uncertain significance Single submitter
- CD93 p.Arg393Leu Uncertain significance Single submitter
- CD93 p.Arg518Lys Uncertain significance Single submitter
- CD93 p.Arg607Leu Uncertain significance Single submitter
- CD93 p.Arg613Lys Uncertain significance Single submitter
- CD93 p.Arg634Gln Uncertain significance Single submitter
- CD93 p.Arg634Leu Uncertain significance Single submitter
- CD93 p.Asn265Tyr Uncertain significance Single submitter
- CD93 p.Asn402Asp Uncertain significance Single submitter
- CD93 p.Asn642Lys Uncertain significance Single submitter
- CD93 p.Cys240Phe Uncertain significance Single submitter
- CD93 p.Cys257Tyr Uncertain significance Single submitter
- CD93 p.Cys287Arg Uncertain significance Single submitter
- CD93 p.Cys300Trp Uncertain significance Single submitter
- CD93 p.Gln150Arg Uncertain significance Single submitter
- CD93 p.Gln17Leu Uncertain significance Single submitter
- CD93 p.Gln643Glu Uncertain significance Single submitter
- CD93 p.Glu131Asp Uncertain significance Single submitter
- CD93 p.Glu412Ala Uncertain significance Single submitter
- CD93 p.Gly118Cys Uncertain significance Single submitter
- CD93 p.Gly186Asp Uncertain significance Single submitter
- CD93 p.Gly269Arg Uncertain significance Single submitter
- CD93 p.Gly278Ala Uncertain significance Single submitter
- CD93 p.Gly278Arg Uncertain significance Single submitter
- CD93 p.Gly278Glu Uncertain significance Single submitter
- CD93 p.Gly278Trp Uncertain significance Single submitter
- CD93 p.Gly313Glu Uncertain significance Single submitter
- CD93 p.Gly422Arg Uncertain significance Single submitter
- CD93 p.Gly487Arg Uncertain significance Single submitter
- CD93 p.His551Gln Uncertain significance Single submitter
- CD93 p.Ile527Val Uncertain significance Single submitter
- CD93 p.Ile593Val Uncertain significance Single submitter
- CD93 p.Leu601Val Uncertain significance Single submitter
- CD93 p.Leu8Pro Uncertain significance Single submitter
- CD93 p.Lys112Arg Uncertain significance Single submitter
- CD93 p.Lys230Thr Uncertain significance Single submitter
- CD93 p.Lys261Asn Uncertain significance Single submitter
- CD93 p.Lys619Glu Uncertain significance Single submitter
- CD93 p.Lys620Glu Uncertain significance Single submitter
- CD93 p.Met5Thr Uncertain significance Single submitter
- CD93 p.Phe584Tyr Uncertain significance Single submitter
- CD93 p.Pro107Leu Uncertain significance Single submitter
- CD93 p.Pro171Ala Uncertain significance Single submitter
- CD93 p.Pro255Arg Uncertain significance Single submitter
- CD93 p.Pro434Leu Uncertain significance Single submitter
- CD93 p.Pro476Ser Uncertain significance Single submitter
- CD93 p.Pro480Ser Uncertain significance Single submitter
- CD93 p.Pro495Ser Uncertain significance Single submitter
- CD93 p.Pro537Ser Uncertain significance Single submitter
- CD93 p.Pro646Leu Uncertain significance Single submitter
- CD93 p.Ser219Tyr Uncertain significance Single submitter
- CD93 p.Ser282Phe Uncertain significance Single submitter
- CD93 p.Ser410Phe Uncertain significance Single submitter
- CD93 p.Ser501Gly Uncertain significance Single submitter
- CD93 p.Ser627Asn Uncertain significance Single submitter
- CD93 p.Thr123Met Uncertain significance Single submitter
- CD93 p.Thr516Pro Uncertain significance Single submitter
- CD93 p.Thr576Ala Uncertain significance Single submitter
- CD93 p.Val30Ala Uncertain significance Single submitter
- CD93 p.Val465Ile Uncertain significance Single submitter
- CD93 p.Val63Leu Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- CD93 p.Ala214Val Uncertain significance Single submitter
- CD93 p.Ala315Thr Uncertain significance Single submitter
- CD93 p.Ala397Thr Uncertain significance Single submitter
- CD93 p.Ala611Gly Uncertain significance Single submitter
- CD93 p.Ala69Val Uncertain significance Single submitter
- CD93 p.Arg156Cys Uncertain significance Single submitter
- CD93 p.Arg288Pro Uncertain significance Single submitter
- CD93 p.Arg312Cys Uncertain significance Single submitter
- CD93 p.Arg607His Uncertain significance Single submitter
- CD93 p.Arg609Trp Uncertain significance Single submitter
- CD93 p.Asn127Ser Uncertain significance Single submitter
- CD93 p.Asp249Asn Uncertain significance Single submitter
- CD93 p.Cys652Tyr Uncertain significance Single submitter
- CD93 p.Gln273Glu Uncertain significance Single submitter
- CD93 p.Gly21Arg Uncertain significance Single submitter
- CD93 p.Gly286Ser Uncertain significance Single submitter
- CD93 p.Gly333Glu Uncertain significance Single submitter
- CD93 p.Gly379Arg Uncertain significance Single submitter
- CD93 p.Gly436Cys Uncertain significance Single submitter
- CD93 p.Gly464Arg Uncertain significance Single submitter
- CD93 p.Gly470Glu Uncertain significance Single submitter
- CD93 p.Gly491Trp Uncertain significance Single submitter
- CD93 p.Leu191Met Uncertain significance Single submitter
- CD93 p.Leu438Phe Uncertain significance Single submitter
- CD93 p.Leu460Pro Uncertain significance Single submitter
- CD93 p.Leu474Met Uncertain significance Single submitter
- CD93 p.Leu532Phe Uncertain significance Single submitter
- CD93 p.Leu604Gln Uncertain significance Single submitter
- CD93 p.Lys243Glu Uncertain significance Single submitter
- CD93 p.Lys619Thr Uncertain significance Single submitter
- CD93 p.Pro362Ser Uncertain significance Single submitter
- CD93 p.Pro480Arg Uncertain significance Single submitter
- CD93 p.Pro495Leu Uncertain significance Single submitter
- CD93 p.Ser183Arg Uncertain significance Single submitter
- CD93 p.Ser308Phe Uncertain significance Single submitter
- CD93 p.Ser492Asn Uncertain significance Single submitter
- CD93 p.Ser517Asn Uncertain significance Single submitter
- CD93 p.Ser566Phe Likely benign Single submitter
- CD93 p.Thr493Ile Benign Single submitter
- CD93 p.Thr509Ile Uncertain significance Single submitter
- CD93 p.Thr516Arg Uncertain significance Single submitter
- CD93 p.Val298Glu Uncertain significance Single submitter
- CD93 p.Val346Met Uncertain significance Single submitter
- CD93 p.Val494Met Uncertain significance Single submitter
- CD93 p.Val75Leu Uncertain significance Single submitter
-
CD93 p.Arg496Cys
Likely benign
No assertion criteria
CD93-related disorder
-
CD93 p.Met187Ile
Uncertain significance
No assertion criteria
CD93-related disorder
-
CD93 p.Val117Gly
Benign
No assertion criteria
CD93-related disorder
All CD93 variants
Benign 8
- p.Gly448= Multiple submitters
- p.Ser520Leu Multiple submitters
- p.Val428Leu Multiple submitters
- c.1934+86G>A Single submitter
- p.Arg496= Single submitter
- p.Pro541Ser Single submitter
- p.Thr493Ile Single submitter ⚠
- p.Val117Gly No assertion criteria CD93-related disorder ⚠
Likely benign 14
- p.Ala552Thr Single submitter
- p.Glu232Lys Single submitter
- p.His551= Single submitter
- p.Met534Val Single submitter
- p.Met5Val Single submitter
- p.Ser41Trp Single submitter
- p.Ser566Phe Single submitter ⚠
- p.Arg496Cys No assertion criteria CD93-related disorder ⚠
- p.Arg496His No assertion criteria CD93-related disorder
- p.Glu484del No assertion criteria CD93-related disorder
- p.Gly118= No assertion criteria CD93-related disorder
- p.Ser41= No assertion criteria CD93-related disorder
- p.Thr34= No assertion criteria CD93-related disorder
- p.Val543Ile No assertion criteria CD93-related disorder
Uncertain significance 111
- p.Ala214Val Single submitter ⚠
- p.Ala24Pro Single submitter ⚠
- p.Ala315Thr Single submitter ⚠
- p.Ala35Pro Single submitter ⚠
- p.Ala397Thr Single submitter ⚠
- p.Ala525Thr Single submitter ⚠
- p.Ala611Gly Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg288Pro Single submitter ⚠
- p.Arg312Cys Single submitter ⚠
- p.Arg312His Single submitter ⚠
- p.Arg312Ser Single submitter ⚠
- p.Arg393Leu Single submitter ⚠
- p.Arg518Lys Single submitter ⚠
- p.Arg607His Single submitter ⚠
- p.Arg607Leu Single submitter ⚠
- p.Arg609Trp Single submitter ⚠
- p.Arg613Lys Single submitter ⚠
- p.Arg634Gln Single submitter ⚠
- p.Arg634Leu Single submitter ⚠
- p.Arg634Ter Single submitter CD93-related disorder
- p.Asn127Ser Single submitter ⚠
- p.Asn265Tyr Single submitter ⚠
- p.Asn402Asp Single submitter ⚠
- p.Asn642Lys Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Cys240Phe Single submitter ⚠
- p.Cys257Tyr Single submitter ⚠
- p.Cys287Arg Single submitter ⚠
- p.Cys300Trp Single submitter ⚠
- p.Cys652Tyr Single submitter ⚠
- p.Gln150Arg Single submitter ⚠
- p.Gln17Leu Single submitter ⚠
- p.Gln273Glu Single submitter ⚠
- p.Gln643Glu Single submitter ⚠
- p.Glu131Asp Single submitter ⚠
- p.Glu412Ala Single submitter ⚠
- p.Gly118Cys Single submitter ⚠
- p.Gly186Asp Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly278Ala Single submitter ⚠
- p.Gly278Arg Single submitter ⚠
- p.Gly278Glu Single submitter ⚠
- p.Gly278Trp Single submitter ⚠
- p.Gly286Ser Single submitter ⚠
- p.Gly313Glu Single submitter ⚠
- p.Gly333Glu Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly422Arg Single submitter ⚠
- p.Gly436Cys Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.Gly470Glu Single submitter ⚠
- p.Gly487Arg Single submitter ⚠
- p.Gly491Trp Single submitter ⚠
- p.His551Gln Single submitter ⚠
- p.Ile527Val Single submitter ⚠
- p.Ile593Val Single submitter ⚠
- p.Leu191Met Single submitter ⚠
- p.Leu438Phe Single submitter ⚠
- p.Leu460Pro Single submitter ⚠
- p.Leu474Met Single submitter ⚠
- p.Leu532Phe Single submitter ⚠
- p.Leu601Val Single submitter ⚠
- p.Leu604Gln Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Lys112Arg Single submitter ⚠
- p.Lys230Thr Single submitter ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys261Asn Single submitter ⚠
- p.Lys619Glu Single submitter ⚠
- p.Lys619Thr Single submitter ⚠
- p.Lys620Glu Single submitter ⚠
- p.Met5Thr Single submitter ⚠
- p.Phe584Tyr Single submitter ⚠
- p.Pro107Leu Single submitter ⚠
- p.Pro171Ala Single submitter ⚠
- p.Pro255Arg Single submitter ⚠
- p.Pro362Ser Single submitter ⚠
- p.Pro434Leu Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro480Arg Single submitter ⚠
- p.Pro480Ser Single submitter ⚠
- p.Pro495Leu Single submitter ⚠
- p.Pro495Ser Single submitter ⚠
- p.Pro537Ser Single submitter ⚠
- p.Pro646Leu Single submitter ⚠
- p.Ser183Arg Single submitter ⚠
- p.Ser219Tyr Single submitter ⚠
- p.Ser282Phe Single submitter ⚠
- p.Ser308Phe Single submitter ⚠
- p.Ser410Phe Single submitter ⚠
- p.Ser492Asn Single submitter ⚠
- p.Ser501Gly Single submitter ⚠
- p.Ser517Asn Single submitter ⚠
- p.Ser627Asn Single submitter ⚠
- p.Thr123Met Single submitter ⚠
- p.Thr509Ile Single submitter ⚠
- p.Thr516Arg Single submitter ⚠
- p.Thr516Pro Single submitter ⚠
- p.Thr576Ala Single submitter ⚠
- p.Val298Glu Single submitter ⚠
- p.Val30Ala Single submitter ⚠
- p.Val346Met Single submitter ⚠
- p.Val465Ile Single submitter ⚠
- p.Val494Met Single submitter ⚠
- p.Val63Leu Single submitter ⚠
- p.Val75Leu Single submitter ⚠
- p.Met187Ile No assertion criteria CD93-related disorder ⚠