CD3G — 165 ClinVar variants
All ClinVar germline CD3G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
7 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 11 Conflicting · 5 Benign · 2 Benign/Likely benign · 61 Likely benign · 67 Uncertain significance
Full CD3G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CD3G p.Ile11Met
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ile14Val
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Tyr171His
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD3G p.Arg146Thr
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gln91His
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gln98His
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gly75Arg
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ala113Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Ala137Ser Uncertain significance Single submitter
-
CD3G p.Ala13Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ala13Val
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Arg166Gln
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Arg82Gln
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Asn156Ser
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Asp165Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Cys46Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Cys87Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Gln144Arg Uncertain significance Single submitter
- CD3G p.Glu67Lys Uncertain significance Single submitter
-
CD3G p.Gly4Val
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gly6Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ile14Asn
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Leu129Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Leu174Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Leu43Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Leu74Val
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Phe118Ser
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Pro162Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Ser172Ile Uncertain significance Single submitter
-
CD3G p.Trp55Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Val33Ala
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
Predictors split 24
The independent predictors disagree with each other — read with care.
-
CD3G p.Ile11Thr
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ser41Leu
Uncertain significance
Multiple submitters
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Ala112Thr Uncertain significance Single submitter
-
CD3G p.Ala113Val
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Arg82Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Asn156His
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Asn177Asp
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Asp58Glu
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Glu109Gly
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Glu122Lys
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gly19Asp
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Gly63Ser
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Ile108Phe Uncertain significance Single submitter
-
CD3G p.Ile53Thr
Conflicting
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Leu153Pro
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Lys51Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Lys57Thr
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Phe56Leu
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Ser41Trp
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
- CD3G p.Thr152Ile Uncertain significance Single submitter
- CD3G p.Thr54Ala Uncertain significance Single submitter
-
CD3G p.Thr54Ile
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Trp72Arg
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
-
CD3G p.Tyr34Cys
Uncertain significance
Single submitter
combined immunodeficiency due to CD3gamma deficiency
All CD3G variants
Pathogenic 7
- c.80-1G>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Arg166Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Gln37Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Lys5Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Lys60Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ser24Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Tyr171Ter Single submitter combined immunodeficiency due to CD3gamma deficiency
Pathogenic/Likely pathogenic 3
Likely pathogenic 9
- c.55+1G>T Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.56-1G>A Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.70_79+5del Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.484-1G>A Single submitter severe combined immunodeficiency
- c.56-2del Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.70_80del Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.79+1G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Met1Lys Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Met1Thr Single submitter combined immunodeficiency due to CD3gamma deficiency
Conflicting classifications of pathogenicity 11
- c.439+12C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.79+10A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.-17G>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Arg166= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Gly19Asp Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gly63Ser Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ile11Met Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ile14Val Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ile53Thr Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Pro81= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Tyr171His Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
Benign 5
- c.*244A>G Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.*453G>T Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- p.Ala130= Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.439+11G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.440-7del Single submitter combined immunodeficiency due to CD3gamma deficiency
Benign/Likely benign 2
- p.Ala22Thr Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- p.Val131Phe Multiple submitters combined immunodeficiency due to CD3gamma deficiency
Likely benign 61
- p.Leu12= Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- c.307+13C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.307+18G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.307+8A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.307+9T>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-10T>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-12T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-13_308-6del Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-13C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-19T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-5T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.308-9T>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.439+8A>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.440-19_440-18del Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.483+14_483+18del Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.483+7G>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.484-13C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.484-17T>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.484-17T>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.484-4C>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.484-4C>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+11A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+12C>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+14A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+15G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+16G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+17G>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+19T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+20C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.55+8C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.56-17C>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.56-17C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.56-5T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.79+45C>T Single submitter
- c.80-17G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.80-18C>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.80-18C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.80-19A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.80-6T>C Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Arg143= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Arg180= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Asn156= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Asn73= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Asn77= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Asp58= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Gln139= Single submitter
- p.Gln23= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Gln37= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Gly4= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ile14= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ile15= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Leu65= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Leu7= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Lys150= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Phe127= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Phe64= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ser24= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ser41= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ser94= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Thr54= Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Val131= Single submitter combined immunodeficiency due to CD3gamma deficiency
Uncertain significance 67
- c.*308G>A Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- p.Ala130_Val131delinsValPhe Multiple submitters combined immunodeficiency due to CD3gamma deficiency
- p.Arg146Thr Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gln91His Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gln98His Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gly75Arg Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ile11Thr Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ser41Leu Multiple submitters combined immunodeficiency due to CD3gamma deficiency ⚠
- c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.79+3A>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.79+4G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*112C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*141G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*216C>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*253G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*363C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*426T>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*450dup Single submitter
- c.*450T>G Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*500G>A Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*551C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*617G>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- c.*650C>T Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ala112Thr Single submitter ⚠
- p.Ala113Gly Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ala113Val Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ala137Ser Single submitter ⚠
- p.Ala13Thr Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ala13Val Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Arg166Gln Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Arg82Gln Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Arg82Pro Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Asn156His Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Asn156Ser Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Asn177Asp Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Asp165Gly Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Asp58Glu Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Cys46Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Cys87Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gln144Arg Single submitter ⚠
- p.Glu109Gly Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Glu122Lys Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Glu67Lys Single submitter ⚠
- p.Gly4Val Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Gly6Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ile108Phe Single submitter ⚠
- p.Ile123fs Single submitter combined immunodeficiency due to CD3gamma deficiency
- p.Ile14Asn Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Leu129Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Leu153Pro Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Leu174Pro Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Leu43Pro Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Leu74Val Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Lys51Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Lys57Thr Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Phe118Ser Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Phe56Leu Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Pro162Thr Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Ser172Ile Single submitter ⚠
- p.Ser41Trp Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr54Ala Single submitter ⚠
- p.Thr54Ile Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Trp55Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Trp72Arg Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Tyr34Cys Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠
- p.Val33Ala Single submitter combined immunodeficiency due to CD3gamma deficiency ⚠