CD3D — 212 ClinVar variants
All ClinVar germline CD3D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 3 Conflicting · 11 Benign · 1 Benign/Likely benign · 99 Likely benign · 82 Uncertain significance
Full CD3D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD3D p.Ala119Asp
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Asn74Ser
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Gln140Lys
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Glu129Gly
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Glu83Lys
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.His128Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Ile78Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Lys82Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Val88Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Ala136Gly
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Arg153Gln
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Arg153Gly
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Asn145Lys
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Asn74Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Asp138Asn
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Asp154Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Asp156His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Cys93Tyr
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gln140Glu
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gln147Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gly106Asp
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gly135Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gly135Glu
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Gly164Ala
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.His128Leu
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.His89Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ile26Val
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ile41Val
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ile55Leu
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Leu152Pro
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Lys23Gln
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Lys80Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Met92Thr
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ser20Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr115Asn
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr14Ser
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr56Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Thr76Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Tyr71His
Uncertain significance
Single submitter
immunodeficiency 19
Predictors split 29
The independent predictors disagree with each other — read with care.
-
CD3D p.Arg169Gln
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Arg169Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Arg63His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD3D p.Asn38Lys
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Leu51Pro
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Thr115Ser
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Thr139Ile
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Thr56Ile
Uncertain significance
Multiple submitters
immunodeficiency 19
-
CD3D p.Ala119Val
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Arg63Cys
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Arg68Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.Arg68Gly
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Asn38Asp
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Asp31Asn
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Glu83Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD3D p.His162Leu
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ile26Thr
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ile70Met
Likely benign
Single submitter
Inborn genetic diseases
-
CD3D p.Leu10Val
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Leu7Phe
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Phe125Leu
Uncertain significance
Single submitter
immunodeficiency 19
- CD3D p.Pro21His Uncertain significance Single submitter
-
CD3D p.Ser4Asn
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Ser95Arg
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr115Pro
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr47Met
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Thr50Ser
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Tyr79Cys
Uncertain significance
Single submitter
immunodeficiency 19
-
CD3D p.Val86Met
Uncertain significance
Single submitter
Inborn genetic diseases
All CD3D variants
Pathogenic 9
- p.Arg68Ter Multiple submitters immunodeficiency 19
- p.Cys93Ter Multiple submitters immunodeficiency 19
- p.Arg91Ter Single submitter immunodeficiency 19
- p.Asn36fs Single submitter severe combined immunodeficiency
- p.Gln18fs Single submitter immunodeficiency 19
- p.His3fs Single submitter immunodeficiency 19
- p.Leu15fs Single submitter immunodeficiency 19
- p.Trp43Ter Single submitter immunodeficiency 19
- p.Tyr79Ter Single submitter immunodeficiency 19
Pathogenic/Likely pathogenic 2
- c.274+5G>A Multiple submitters CD3D-related disorder
- p.Leu7fs Multiple submitters immunodeficiency 19
Likely pathogenic 5
- c.407-2A>G Multiple submitters immunodeficiency 19
- c.274+2T>C Single submitter immunodeficiency 19
- c.406+1G>T Single submitter immunodeficiency 19
- c.407-1G>A Single submitter immunodeficiency 19
- c.450+1G>A Single submitter immunodeficiency 19
Conflicting classifications of pathogenicity 3
- c.450+7G>T Single submitter immunodeficiency 19
- p.Arg153Ter Single submitter immunodeficiency 19
- p.Asn170= Single submitter immunodeficiency 19
Benign 11
- c.275-18T>C Multiple submitters immunodeficiency 19
- c.406+18G>A Multiple submitters immunodeficiency 19
- c.406+34GT[15] Multiple submitters
- c.450+60C>G Multiple submitters
- c.451-18T>G Multiple submitters immunodeficiency 19
- c.406+34GT[14] Single submitter
- c.406+34GT[17] Single submitter
- c.406+34GT[18] Single submitter
- c.406+34GT[19] Single submitter
- c.56-10dup Single submitter immunodeficiency 19
- c.*59C>T Single submitter immunodeficiency 19
Benign/Likely benign 1
- c.56-17T>C Multiple submitters immunodeficiency 19
Likely benign 99
- p.Gln18Lys Multiple submitters immunodeficiency 19
- p.Thr103= Multiple submitters immunodeficiency 19
- c.274+15A>G Single submitter immunodeficiency 19
- c.274+16A>G Single submitter immunodeficiency 19
- c.274+18C>A Single submitter immunodeficiency 19
- c.274+20T>G Single submitter immunodeficiency 19
- c.274+8C>T Single submitter immunodeficiency 19
- c.275-13C>T Single submitter immunodeficiency 19
- c.275-19C>T Single submitter immunodeficiency 19
- c.275-5C>A Single submitter immunodeficiency 19
- c.275-5C>T Single submitter immunodeficiency 19
- c.275-9C>G Single submitter immunodeficiency 19
- c.275-9C>T Single submitter immunodeficiency 19
- c.406+12A>G Single submitter immunodeficiency 19
- c.406+14C>A Single submitter immunodeficiency 19
- c.406+14C>T Single submitter immunodeficiency 19
- c.406+7G>A Single submitter immunodeficiency 19
- c.407-10G>A Single submitter immunodeficiency 19
- c.407-10G>T Single submitter immunodeficiency 19
- c.407-12T>C Single submitter immunodeficiency 19
- c.407-13C>G Single submitter immunodeficiency 19
- c.407-15C>T Single submitter immunodeficiency 19
- c.407-17C>T Single submitter immunodeficiency 19
- c.407-18T>C Single submitter immunodeficiency 19
- c.407-19C>T Single submitter immunodeficiency 19
- c.407-19CT[3] Single submitter immunodeficiency 19
- c.407-7C>T Single submitter immunodeficiency 19
- c.450+14G>T Single submitter immunodeficiency 19
- c.450+18G>A Single submitter immunodeficiency 19
- c.450+19G>A Single submitter immunodeficiency 19
- c.450+7G>A Single submitter immunodeficiency 19
- c.450+8T>C Single submitter immunodeficiency 19
- c.451-12C>T Single submitter immunodeficiency 19
- c.451-14T>G Single submitter immunodeficiency 19
- c.451-15C>T Single submitter immunodeficiency 19
- c.451-18T>C Single submitter immunodeficiency 19
- c.451-7C>G Single submitter immunodeficiency 19
- c.451-8T>C Single submitter immunodeficiency 19
- c.451-9_451-7del Single submitter immunodeficiency 19
- c.451-9C>T Single submitter immunodeficiency 19
- c.55+12C>A Single submitter immunodeficiency 19
- c.55+15G>A Single submitter immunodeficiency 19
- c.55+16G>A Single submitter immunodeficiency 19
- c.55+20del Single submitter immunodeficiency 19
- c.55+20G>A Single submitter immunodeficiency 19
- c.55+20G>C Single submitter immunodeficiency 19
- c.55+289C>T Single submitter
- c.55+8T>G Single submitter immunodeficiency 19
- c.56-10del Single submitter immunodeficiency 19
- c.56-15T>C Single submitter immunodeficiency 19
- c.56-16A>G Single submitter immunodeficiency 19
- c.56-7C>T Single submitter immunodeficiency 19
- p.Ala114= Single submitter immunodeficiency 19
- p.Ala126= Single submitter immunodeficiency 19
- p.Ala137= Single submitter immunodeficiency 19
- p.Arg132= Single submitter immunodeficiency 19
- p.Arg144= Single submitter immunodeficiency 19
- p.Arg155= Single submitter immunodeficiency 19
- p.Arg63= Single submitter immunodeficiency 19
- p.Arg68= Single submitter immunodeficiency 19
- p.Asn36= Single submitter immunodeficiency 19
- p.Asn74= Single submitter immunodeficiency 19
- p.Asp100= Single submitter immunodeficiency 19
- p.Asp54= Single submitter immunodeficiency 19
- p.Gln159= Single submitter immunodeficiency 19
- p.Glu27= Single submitter immunodeficiency 19
- p.Glu28= Single submitter immunodeficiency 19
- p.Gly127= Single submitter immunodeficiency 19
- p.Gly46= Single submitter immunodeficiency 19
- p.Gly75= Single submitter immunodeficiency 19
- p.Gly9= Single submitter immunodeficiency 19
- p.His128= Single submitter immunodeficiency 19
- p.His162= Single submitter immunodeficiency 19
- p.Ile70Met Single submitter Inborn genetic diseases ⚠
- p.Leu10= Single submitter immunodeficiency 19
- p.Leu116= Single submitter immunodeficiency 19
- p.Leu117= Single submitter immunodeficiency 19
- p.Leu120= Single submitter immunodeficiency 19
- p.Leu133= Single submitter immunodeficiency 19
- p.Leu16= Single submitter immunodeficiency 19
- p.Leu52= Single submitter immunodeficiency 19
- p.Leu58= Single submitter immunodeficiency 19
- p.Leu60= Single submitter immunodeficiency 19
- p.Pro101= Single submitter immunodeficiency 19
- p.Pro151= Single submitter immunodeficiency 19
- p.Ser17= Single submitter immunodeficiency 19
- p.Ser4= Single submitter immunodeficiency 19
- p.Ser53= Single submitter immunodeficiency 19
- p.Thr115= Single submitter immunodeficiency 19
- p.Thr130= Single submitter
- p.Thr42= Single submitter immunodeficiency 19
- p.Thr47= Single submitter immunodeficiency 19
- p.Thr5= Single submitter immunodeficiency 19
- p.Thr5Met Single submitter Inborn genetic diseases
- p.Thr85= Single submitter immunodeficiency 19
- p.Tyr160= Single submitter immunodeficiency 19
- p.Tyr71= Single submitter immunodeficiency 19
- p.Val109= Single submitter immunodeficiency 19
- p.Val148= Single submitter immunodeficiency 19
Uncertain significance 82
- c.274+4C>T Multiple submitters immunodeficiency 19
- c.450+6C>T Multiple submitters severe combined immunodeficiency
- c.55+5G>A Multiple submitters immunodeficiency 19
- p.Ala119Asp Multiple submitters immunodeficiency 19 ⚠
- p.Arg169Gln Multiple submitters immunodeficiency 19 ⚠
- p.Arg169Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg63His Multiple submitters Inborn genetic diseases ⚠
- p.Asn38Lys Multiple submitters immunodeficiency 19 ⚠
- p.Asn74Ser Multiple submitters immunodeficiency 19 ⚠
- p.Gln140Lys Multiple submitters immunodeficiency 19 ⚠
- p.Glu129Gly Multiple submitters immunodeficiency 19 ⚠
- p.Glu83Lys Multiple submitters immunodeficiency 19 ⚠
- p.His128Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile78Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu51Pro Multiple submitters immunodeficiency 19 ⚠
- p.Lys82Glu Multiple submitters Inborn genetic diseases ⚠
- p.Thr115Ser Multiple submitters immunodeficiency 19 ⚠
- p.Thr139Ile Multiple submitters immunodeficiency 19 ⚠
- p.Thr56Ile Multiple submitters immunodeficiency 19 ⚠
- p.Val88Ile Multiple submitters Inborn genetic diseases ⚠
- c.406+5G>A Single submitter immunodeficiency 19
- c.55+6G>C Single submitter
- c.56-17_56-16delinsGC Single submitter immunodeficiency 19
- c.-128G>T Single submitter immunodeficiency 19
- c.-44G>A Single submitter immunodeficiency 19
- c.-46T>C Single submitter immunodeficiency 19
- c.-77G>A Single submitter immunodeficiency 19
- c.-8G>A Single submitter immunodeficiency 19
- c.-93C>T Single submitter immunodeficiency 19
- p.Ala119Val Single submitter immunodeficiency 19 ⚠
- p.Ala136Gly Single submitter immunodeficiency 19 ⚠
- p.Arg153Gln Single submitter immunodeficiency 19 ⚠
- p.Arg153Gly Single submitter immunodeficiency 19 ⚠
- p.Arg155Ter Single submitter immunodeficiency 19
- p.Arg63Cys Single submitter immunodeficiency 19 ⚠
- p.Arg68Gln Single submitter Inborn genetic diseases ⚠
- p.Arg68Gly Single submitter immunodeficiency 19 ⚠
- p.Asn145Lys Single submitter immunodeficiency 19 ⚠
- p.Asn38Asp Single submitter immunodeficiency 19 ⚠
- p.Asn74Lys Single submitter Inborn genetic diseases ⚠
- p.Asp138Asn Single submitter immunodeficiency 19 ⚠
- p.Asp154Gly Single submitter Inborn genetic diseases ⚠
- p.Asp156His Single submitter Inborn genetic diseases ⚠
- p.Asp31Asn Single submitter immunodeficiency 19 ⚠
- p.Cys93Tyr Single submitter immunodeficiency 19 ⚠
- p.Gln140Glu Single submitter immunodeficiency 19 ⚠
- p.Gln147Arg Single submitter immunodeficiency 19 ⚠
- p.Glu83Gly Single submitter Inborn genetic diseases ⚠
- p.Gly106Asp Single submitter immunodeficiency 19 ⚠
- p.Gly135Arg Single submitter immunodeficiency 19 ⚠
- p.Gly135Glu Single submitter immunodeficiency 19 ⚠
- p.Gly164Ala Single submitter immunodeficiency 19 ⚠
- p.His128Leu Single submitter immunodeficiency 19 ⚠
- p.His162Leu Single submitter immunodeficiency 19 ⚠
- p.His89Arg Single submitter immunodeficiency 19 ⚠
- p.Ile26Thr Single submitter immunodeficiency 19 ⚠
- p.Ile26Val Single submitter immunodeficiency 19 ⚠
- p.Ile41Val Single submitter immunodeficiency 19 ⚠
- p.Ile55Leu Single submitter immunodeficiency 19 ⚠
- p.Leu10Val Single submitter immunodeficiency 19 ⚠
- p.Leu152fs Single submitter
- p.Leu152Pro Single submitter immunodeficiency 19 ⚠
- p.Leu7Phe Single submitter immunodeficiency 19 ⚠
- p.Lys23Gln Single submitter immunodeficiency 19 ⚠
- p.Lys80Arg Single submitter immunodeficiency 19 ⚠
- p.Met92Thr Single submitter immunodeficiency 19 ⚠
- p.Phe125Leu Single submitter immunodeficiency 19 ⚠
- p.Pro21His Single submitter ⚠
- p.Ser20Arg Single submitter immunodeficiency 19 ⚠
- p.Ser4Asn Single submitter immunodeficiency 19 ⚠
- p.Ser95Arg Single submitter immunodeficiency 19 ⚠
- p.Thr115Asn Single submitter immunodeficiency 19 ⚠
- p.Thr115Pro Single submitter immunodeficiency 19 ⚠
- p.Thr14Ser Single submitter immunodeficiency 19 ⚠
- p.Thr47Met Single submitter immunodeficiency 19 ⚠
- p.Thr50Ser Single submitter immunodeficiency 19 ⚠
- p.Thr56Arg Single submitter Inborn genetic diseases ⚠
- p.Thr76Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr71His Single submitter immunodeficiency 19 ⚠
- p.Tyr79Cys Single submitter immunodeficiency 19 ⚠
- p.Tyr79del Single submitter immunodeficiency 19
- p.Val86Met Single submitter Inborn genetic diseases ⚠