CD4 — 45 ClinVar variants
All ClinVar germline CD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
2 Pathogenic · 16 Benign · 1 Benign/Likely benign · 8 Likely benign · 18 Uncertain significance
Full CD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD4 p.Thr444Ala
Uncertain significance
Multiple submitters
immunodeficiency 79
- CD4 p.Ala357Val Uncertain significance Single submitter
- CD4 p.Cys328Arg Uncertain significance Single submitter
- CD4 p.Gln395Lys Uncertain significance Single submitter
- CD4 p.Gly275Ala Uncertain significance Single submitter
- CD4 p.His309Leu Uncertain significance Single submitter
- CD4 p.Ile61Leu Uncertain significance Single submitter
- CD4 p.Leu361Pro Uncertain significance Single submitter
- CD4 p.Lys277Thr Uncertain significance Single submitter
-
CD4 p.Thr267Ala
Uncertain significance
Single submitter
Okt4 epitope deficiency
- CD4 p.Val401Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
-
CD4 p.Arg265Trp
Benign
Multiple submitters
Okt4 epitope deficiency
- CD4 p.Arg431Gln Benign Multiple submitters
- CD4 p.Ala226Thr Likely benign Single submitter
- CD4 p.Arg425Pro Uncertain significance Single submitter
- CD4 p.Arg450Trp Uncertain significance Single submitter
- CD4 p.Gly407Ser Uncertain significance Single submitter
- CD4 p.Phe123Leu Uncertain significance Single submitter
- CD4 p.Ser352Trp Uncertain significance Single submitter
- CD4 p.Thr36Arg Uncertain significance Single submitter
- CD4 p.Val186Ala Uncertain significance Single submitter
All CD4 variants
Pathogenic 2
- c.1157-1G>A No assertion criteria immunodeficiency 79
- p.Met1Val No assertion criteria immunodeficiency 79
Benign 16
- c.1346+55T>G Multiple submitters immunodeficiency 79
- c.49+28del Multiple submitters immunodeficiency 79
- c.49+35A>G Multiple submitters immunodeficiency 79
- c.*91C>A Multiple submitters immunodeficiency 79
- c.*92A>G Multiple submitters immunodeficiency 79
- p.Arg265Trp Multiple submitters Okt4 epitope deficiency ⚠
- p.Arg431Gln Multiple submitters ⚠
- p.Cys447= Multiple submitters immunodeficiency 79
- p.Lys191Glu Multiple submitters
- p.Phe123= Multiple submitters
- p.Phe227Ser Multiple submitters
- p.Ser341= Multiple submitters immunodeficiency 79
- p.Ser456= Multiple submitters
- c.1157-117C>T Single submitter
- c.50-31T>C Single submitter
- c.608-73C>T Single submitter
Benign/Likely benign 1
- p.Glu237= Multiple submitters
Likely benign 8
Uncertain significance 18
- p.Thr444Ala Multiple submitters immunodeficiency 79 ⚠
- p.Ala357Val Single submitter ⚠
- p.Arg425Pro Single submitter ⚠
- p.Arg450Trp Single submitter ⚠
- p.Cys328Arg Single submitter ⚠
- p.Gln395Lys Single submitter ⚠
- p.Gly275Ala Single submitter ⚠
- p.Gly407Ser Single submitter ⚠
- p.His309Leu Single submitter ⚠
- p.Ile61Leu Single submitter ⚠
- p.Leu361Pro Single submitter ⚠
- p.Lys277Thr Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Ser352Trp Single submitter ⚠
- p.Thr267Ala Single submitter Okt4 epitope deficiency ⚠
- p.Thr36Arg Single submitter ⚠
- p.Val186Ala Single submitter ⚠
- p.Val401Ala Single submitter ⚠