CD33 — 67 ClinVar variants
All ClinVar germline CD33 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
18 Benign · 11 Likely benign · 38 Uncertain significance
Full CD33 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD33 p.Asp51Asn Uncertain significance Multiple submitters
- CD33 p.Ala329Ser Uncertain significance Single submitter
- CD33 p.Glu337Gln Uncertain significance Single submitter
- CD33 p.His300Asn Uncertain significance Single submitter
- CD33 p.Phe61Leu Uncertain significance Single submitter
- CD33 p.Ser131Phe Uncertain significance Single submitter
- CD33 p.Thr292Arg Uncertain significance Single submitter
- CD33 p.Thr303Arg Uncertain significance Single submitter
- CD33 p.Val267Ala Uncertain significance Single submitter
- CD33 p.Val73Gly Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CD33 p.Ala14Val Benign Multiple submitters
- CD33 p.Ala65Pro Benign Multiple submitters
- CD33 p.Arg62Gln Likely benign Multiple submitters
- CD33 p.Arg69Gly Benign Multiple submitters
- CD33 p.Ala108Thr Uncertain significance Single submitter
- CD33 p.Ala265Pro Uncertain significance Single submitter
- CD33 p.Arg119Trp Uncertain significance Single submitter
- CD33 p.Arg286Gly Uncertain significance Single submitter
- CD33 p.Arg91Cys Uncertain significance Single submitter
- CD33 p.Asn113Asp Uncertain significance Single submitter
- CD33 p.Asn99Lys Uncertain significance Single submitter
- CD33 p.Gln26Glu Uncertain significance Single submitter
- CD33 p.Gly327Cys Uncertain significance Single submitter
- CD33 p.Ile149Thr Uncertain significance Single submitter
- CD33 p.Leu141Ser Uncertain significance Single submitter
- CD33 p.Leu15Arg Uncertain significance Single submitter
- CD33 p.Leu277Val Uncertain significance Single submitter
- CD33 p.Leu35Trp Uncertain significance Single submitter
- CD33 p.Phe117Tyr Uncertain significance Single submitter
- CD33 p.Pro55Leu Uncertain significance Single submitter
- CD33 p.Ser186Thr Uncertain significance Single submitter
- CD33 p.Ser307Phe Uncertain significance Single submitter
- CD33 p.Ser323Leu Uncertain significance Single submitter
- CD33 p.Thr152Ile Uncertain significance Single submitter
- CD33 p.Thr152Pro Uncertain significance Single submitter
- CD33 p.Thr200Ile Uncertain significance Single submitter
- CD33 p.Thr211Ser Uncertain significance Single submitter
- CD33 p.Thr30Met Uncertain significance Single submitter
- CD33 p.Thr354Ile Uncertain significance Single submitter
- CD33 p.Tyr127His Likely benign Single submitter
- CD33 p.Val37Ile Uncertain significance Single submitter
All CD33 variants
Benign 18
- c.924+295A>G Multiple submitters
- c.924+296C>T Multiple submitters
- c.924+2T>C Multiple submitters
- c.924+469G>C Multiple submitters
- c.*201G>C Multiple submitters
- p.Ala14Val Multiple submitters ⚠
- p.Ala65Pro Multiple submitters ⚠
- p.Arg69Gly Multiple submitters ⚠
- p.Gly13= Multiple submitters
- p.Gly304Arg Multiple submitters
- p.His137Arg Multiple submitters
- p.Phe243Leu Multiple submitters
- p.Phe44Ser Multiple submitters
- p.Ser128Asn Multiple submitters
- p.Ser305Pro Multiple submitters
- p.Thr192= Multiple submitters
- p.Val267Ile Multiple submitters
- p.Gly156fs Single submitter
Likely benign 11
- p.Arg62Gln Multiple submitters ⚠
- p.Ala328Thr Single submitter
- p.Ala329Thr Single submitter
- p.Arg91His Single submitter
- p.Lys52Arg Single submitter
- p.Pro155= Single submitter
- p.Pro189= Single submitter
- p.Pro308Leu Single submitter
- p.Ser324Gly Single submitter
- p.Tyr127His Single submitter ⚠
- p.Pro238fs No assertion criteria CD33-related disorder
Uncertain significance 38
- p.Asp51Asn Multiple submitters ⚠
- p.Ala108Thr Single submitter ⚠
- p.Ala265Pro Single submitter ⚠
- p.Ala329Ser Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg286Gly Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Asn113Asp Single submitter ⚠
- p.Asn99Lys Single submitter ⚠
- p.Gln26Glu Single submitter ⚠
- p.Glu337Gln Single submitter ⚠
- p.Gly327Cys Single submitter ⚠
- p.His300Asn Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Leu141Ser Single submitter ⚠
- p.Leu15Arg Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu35Trp Single submitter ⚠
- p.Met1Val Single submitter
- p.Phe117Tyr Single submitter ⚠
- p.Phe61Leu Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Ser131Phe Single submitter ⚠
- p.Ser186Thr Single submitter ⚠
- p.Ser307Phe Single submitter ⚠
- p.Ser323Leu Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr152Pro Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Thr211Ser Single submitter ⚠
- p.Thr292Arg Single submitter ⚠
- p.Thr303Arg Single submitter ⚠
- p.Thr30Met Single submitter ⚠
- p.Thr354Ile Single submitter ⚠
- p.Val267Ala Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val73Gly Single submitter ⚠
- p.Ile47_Pro48insAsnIle No assertion criteria CD33-related disorder