CD40LG — 300 ClinVar variants
All ClinVar germline CD40LG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
69 Pathogenic · 5 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 13 Conflicting · 30 Benign · 3 Benign/Likely benign · 76 Likely benign · 79 Uncertain significance
Full CD40LG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- CD40LG p.Leu155Gln Likely pathogenic Single submitter
-
CD40LG p.Thr147Pro
Likely pathogenic
Single submitter
hyper-IgM syndrome type 1
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CD40LG p.Ala13Val
Conflicting
Single submitter
Inborn genetic diseases
-
CD40LG p.Arg181Pro
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gln160Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CD40LG p.Leu138Ser
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Met36Lys
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Phe229Leu
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Phe229Ser
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser184Thr
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser78Pro
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Thr147Asn
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Thr211Asn
Conflicting
Single submitter
hyper-IgM syndrome type 1
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD40LG p.Glu112Gly Uncertain significance Multiple submitters
-
CD40LG p.Gly116Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD40LG p.Ile127Val
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Ile223Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD40LG p.Ile33Asn
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Lys143Asn
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Val228Leu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Val247Met
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Ala13Glu
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ala215Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Arg181Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD40LG p.Arg203Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Asp117Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Asp97Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Cys218Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD40LG p.Glu3Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
- CD40LG p.Glu86Lys Uncertain significance Single submitter
-
CD40LG p.Gly144Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gly167Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gly226Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.His212Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.His249Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD40LG p.Ile171Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ile19Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD40LG p.Ile98Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu100Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu17Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
- CD40LG p.Leu193Arg Uncertain significance Single submitter
-
CD40LG p.Leu205Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu231Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu258Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu41Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu46Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu59Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Met25Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Met36Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Met36Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser110Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser132Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser184Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser184Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser222Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser80Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Thr105Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Thr176Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Thr68Met
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Tyr145His
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Tyr172Asp
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Val247Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
Predictors split 24
The independent predictors disagree with each other — read with care.
-
CD40LG p.Ala123Val
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Gly144Glu
Likely pathogenic
Multiple submitters
hyper-IgM syndrome type 1
-
CD40LG p.Pro188Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD40LG p.Pro188Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD40LG p.Ser236Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD40LG p.Ala173Val
Benign
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Asn157Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gln160Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gln70Glu
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gln90His
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Gly199Ser
Benign
Single submitter
hyper-IgM syndrome type 1
- CD40LG p.Gly226Ala Uncertain significance Single submitter
-
CD40LG p.Gly252Asp
Conflicting
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ile122Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ile190Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ile53Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Leu155Pro
Pathogenic
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Lys96Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser131Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser20Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Ser9Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Tyr145Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Val126Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 1
-
CD40LG p.Val163Ile
Benign
Single submitter
hyper-IgM syndrome type 1
All CD40LG variants
Pathogenic 69
- c.347-2A>G Multiple submitters hyper-IgM syndrome type 1
- p.Ala187fs Multiple submitters Inborn genetic diseases
- p.Arg11Ter Multiple submitters hyper-IgM syndrome type 1
- p.Cys218Ter Multiple submitters hyper-IgM syndrome type 1
- p.Gln160Ter Multiple submitters hyper-IgM syndrome type 1
- p.Gln220Ter Multiple submitters hyper-IgM syndrome type 1
- p.Gln90Ter Multiple submitters hyper-IgM syndrome type 1
- p.Thr254Met Multiple submitters hyper-IgM syndrome type 1
- c.156+1G>A Single submitter hyper-IgM syndrome type 1
- c.156+1G>T Single submitter hyper-IgM syndrome type 1
- c.156+2T>C Single submitter hyper-IgM syndrome type 1
- c.289-1G>A Single submitter hyper-IgM syndrome type 1
- c.289-2A>C Single submitter
- c.346+1del Single submitter
- c.346+1G>A Single submitter hyper-IgM syndrome type 1
- c.346+1G>T Single submitter hyper-IgM syndrome type 1
- c.346+2T>C Single submitter hyper-IgM syndrome type 1
- c.347-1G>A Single submitter hyper-IgM syndrome
- c.409+1del Single submitter hyper-IgM syndrome type 1
- c.409+1G>C Single submitter hyper-IgM syndrome type 1
- c.409+2T>C Single submitter hyper-IgM syndrome type 1
- p.Ala123Glu Single submitter hyper-IgM syndrome type 1
- p.Ala141Pro Single submitter hyper-IgM syndrome type 1
- p.Ala215fs Single submitter hyper-IgM syndrome type 1
- p.Arg200Ter Single submitter hyper-IgM syndrome type 1
- p.Asn157fs Single submitter hyper-IgM syndrome type 1
- p.Asp55fs Single submitter
- p.Cys72Ter Single submitter
- p.Gln114fs Single submitter hyper-IgM syndrome type 1
- p.Gln186Ter Single submitter hyper-IgM syndrome type 1
- p.Gln221Ter Single submitter hyper-IgM syndrome type 1
- p.Gln232Ter Single submitter hyper-IgM syndrome type 1
- p.Gln70Ter Single submitter hyper-IgM syndrome type 1
- p.Glu108fs Single submitter hyper-IgM syndrome type 1
- p.Glu129fs Single submitter hyper-IgM syndrome type 1
- p.Glu129Ter Single submitter hyper-IgM syndrome type 1
- p.Glu56Ter Single submitter hyper-IgM syndrome type 1
- p.Gly144fs Single submitter hyper-IgM syndrome type 1
- p.Gly167Arg Single submitter hyper-IgM syndrome type 1
- p.Gly199fs Single submitter hyper-IgM syndrome type 1
- p.Gly234fs Single submitter hyper-IgM syndrome type 1
- p.Gly257Asp Single submitter hyper-IgM syndrome type 1
- p.Gly38fs Single submitter hyper-IgM syndrome type 1
- p.His47fs Single submitter hyper-IgM syndrome type 1
- p.Leu100Ter Single submitter hyper-IgM syndrome type 1
- p.Leu155Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Lys102fs Single submitter hyper-IgM syndrome type 1
- p.Lys159fs Single submitter hyper-IgM syndrome type 1
- p.Phe253fs Single submitter hyper-IgM syndrome type 1
- p.Pro120fs Single submitter hyper-IgM syndrome type 1
- p.Ser128fs Single submitter hyper-IgM syndrome type 1
- p.Ser12fs Single submitter hyper-IgM syndrome type 1
- p.Ser213fs Single submitter
- p.Ser39Ter Single submitter hyper-IgM syndrome type 1
- p.Thr134fs Single submitter hyper-IgM syndrome type 1
- p.Thr15fs Single submitter hyper-IgM syndrome type 1
- p.Trp140Arg Single submitter hyper-IgM syndrome type 1
- p.Trp140Cys Single submitter hyper-IgM syndrome type 1
- p.Tyr146Ter Single submitter hyper-IgM syndrome type 1
- p.Tyr170fs Single submitter hyper-IgM syndrome type 1
- p.Tyr170Ter Single submitter hyper-IgM syndrome type 1
- p.Tyr45fs Single submitter hyper-IgM syndrome type 1
- p.Tyr5Ter Single submitter hyper-IgM syndrome type 1
- c.412_419del No assertion criteria hyper-IgM syndrome type 1
- p.Ala235Pro No assertion criteria hyper-IgM syndrome type 1
- p.Arg77fs No assertion criteria hyper-IgM syndrome type 1
- p.Gly227Val No assertion criteria hyper-IgM syndrome type 1
- p.Trp140Ter No assertion criteria hyper-IgM syndrome type 1
- p.Val64fs No assertion criteria hyper-IgM syndrome type 1
Pathogenic/Likely pathogenic 5
- c.158_161del Multiple submitters hyper-IgM syndrome type 1
- c.346+5G>A Multiple submitters hyper-IgM syndrome type 1
- p.Gln174Ter Multiple submitters hyper-IgM syndrome type 1
- p.His125Tyr Multiple submitters hyper-IgM syndrome type 1
- p.Met36Arg Multiple submitters hyper-IgM syndrome type 1
Likely pathogenic 25
- p.Gly144Glu Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Phe256Ser Multiple submitters hyper-IgM syndrome type 1
- p.Tyr169Cys Multiple submitters hyper-IgM syndrome type 1
- c.288+1G>A Single submitter hyper-IgM syndrome type 1
- c.349_409+2del Single submitter hyper-IgM syndrome type 1
- p.Asn240fs Single submitter
- p.Gln114Ter Single submitter hyper-IgM syndrome type 1
- p.Gln139Ter Single submitter hyper-IgM syndrome type 1
- p.Gln160fs Single submitter
- p.Gly116Cys Single submitter hyper-IgM syndrome type 1
- p.Gly144Ter Single submitter
- p.Gly257Val Single submitter hyper-IgM syndrome type 1
- p.His125fs Single submitter
- p.His212fs Single submitter hyper-IgM syndrome type 1
- p.Leu155Gln Single submitter ⚠
- p.Leu206Pro Single submitter
- p.Leu225Ser Single submitter
- p.Leu258Ter Single submitter hyper-IgM syndrome type 1
- p.Phe63fs Single submitter hyper-IgM syndrome type 1
- p.Thr147Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr254Lys Single submitter hyper-IgM syndrome type 1
- p.Trp140Gly Single submitter hyper-IgM syndrome type 1
- p.Tyr170Cys Single submitter
- p.Tyr172Cys Single submitter hyper-IgM syndrome type 1
- p.Tyr172His Single submitter hyper-IgM syndrome type 1
Conflicting classifications of pathogenicity 13
- p.Ala13Val Single submitter Inborn genetic diseases ⚠
- p.Arg181Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gln160Glu Single submitter Inborn genetic diseases ⚠
- p.Gly252Asp Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu138Ser Single submitter hyper-IgM syndrome type 1 ⚠
- p.Met36Lys Single submitter hyper-IgM syndrome type 1 ⚠
- p.Phe229Leu Single submitter hyper-IgM syndrome type 1 ⚠
- p.Phe229Ser Single submitter hyper-IgM syndrome type 1 ⚠
- p.Pro198= Single submitter hyper-IgM syndrome type 1
- p.Ser184Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser78Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr147Asn Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr211Asn Single submitter hyper-IgM syndrome type 1 ⚠
Benign 30
- c.410-13T>C Multiple submitters hyper-IgM syndrome type 1
- p.Arg181Gln Multiple submitters hyper-IgM syndrome type 1
- p.Leu27= Multiple submitters hyper-IgM syndrome type 1
- p.Leu50= Multiple submitters hyper-IgM syndrome type 1
- p.Val228= Multiple submitters hyper-IgM syndrome type 1
- c.156+17G>A Single submitter hyper-IgM syndrome type 1
- c.157-277G>A Single submitter
- c.288+188dup Single submitter
- c.288+20del Single submitter hyper-IgM syndrome type 1
- c.289-327T>C Single submitter
- c.409+17C>T Single submitter hyper-IgM syndrome type 1
- p.Ala13= Single submitter hyper-IgM syndrome type 1
- p.Ala130Thr Single submitter hyper-IgM syndrome type 1
- p.Ala173Val Single submitter hyper-IgM syndrome type 1 ⚠
- p.Arg200= Single submitter hyper-IgM syndrome type 1
- p.Asn151Lys Single submitter hyper-IgM syndrome type 1
- p.Gly199Ser Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gly38= Single submitter hyper-IgM syndrome type 1
- p.Ile2= Single submitter hyper-IgM syndrome type 1
- p.Pro10= Single submitter hyper-IgM syndrome type 1
- p.Pro233Leu Single submitter hyper-IgM syndrome type 1
- p.Ser197Ala Single submitter hyper-IgM syndrome type 1
- p.Ser214= Single submitter hyper-IgM syndrome type 1
- p.Ser236= Single submitter hyper-IgM syndrome type 1
- p.Thr105= Single submitter hyper-IgM syndrome type 1
- p.Thr105Met Single submitter hyper-IgM syndrome type 1
- p.Thr68= Single submitter hyper-IgM syndrome type 1
- p.Val163Ile Single submitter hyper-IgM syndrome type 1 ⚠
- p.Val247= Single submitter hyper-IgM syndrome type 1
- p.Val64Ala Single submitter hyper-IgM syndrome type 1
Benign/Likely benign 3
- p.Arg11Gln Multiple submitters hyper-IgM syndrome type 1
- p.Gly219Arg Multiple submitters hyper-IgM syndrome type 1
- p.Phe201Leu Multiple submitters hyper-IgM syndrome type 1
Likely benign 76
- p.Leu231= Multiple submitters hyper-IgM syndrome type 1
- c.156+11C>A Single submitter hyper-IgM syndrome type 1
- c.156+12C>T Single submitter hyper-IgM syndrome type 1
- c.156+18C>T Single submitter hyper-IgM syndrome type 1
- c.156+19C>T Single submitter hyper-IgM syndrome type 1
- c.156+7T>A Single submitter hyper-IgM syndrome type 1
- c.157-15G>C Single submitter hyper-IgM syndrome type 1
- c.157-16T>C Single submitter hyper-IgM syndrome type 1
- c.157-19C>T Single submitter hyper-IgM syndrome type 1
- c.288+9C>T Single submitter hyper-IgM syndrome type 1
- c.289-14G>C Single submitter hyper-IgM syndrome type 1
- c.289-14G>T Single submitter hyper-IgM syndrome type 1
- c.289-17A>G Single submitter hyper-IgM syndrome type 1
- c.289-18C>A Single submitter hyper-IgM syndrome type 1
- c.289-18C>T Single submitter hyper-IgM syndrome type 1
- c.289-19G>A Single submitter hyper-IgM syndrome type 1
- c.289-19G>T Single submitter hyper-IgM syndrome type 1
- c.289-27G>T Single submitter hyper-IgM syndrome type 1
- c.289-7A>G Single submitter hyper-IgM syndrome type 1
- c.346+12A>G Single submitter hyper-IgM syndrome type 1
- c.346+14T>A Single submitter hyper-IgM syndrome type 1
- c.346+16G>T Single submitter hyper-IgM syndrome type 1
- c.346+17C>T Single submitter hyper-IgM syndrome type 1
- c.346+5_346+11dup Single submitter hyper-IgM syndrome type 1
- c.347-12G>A Single submitter hyper-IgM syndrome type 1
- c.347-14T>C Single submitter hyper-IgM syndrome type 1
- c.347-18T>A Single submitter hyper-IgM syndrome type 1
- c.347-18T>C Single submitter hyper-IgM syndrome type 1
- c.347-6T>A Single submitter hyper-IgM syndrome type 1
- c.409+10A>C Single submitter hyper-IgM syndrome type 1
- c.409+12A>G Single submitter hyper-IgM syndrome type 1
- c.409+14C>T Single submitter hyper-IgM syndrome type 1
- c.410-15C>G Single submitter hyper-IgM syndrome type 1
- c.410-5A>G Single submitter hyper-IgM syndrome type 1
- c.410-7G>A Single submitter hyper-IgM syndrome type 1
- p.Ala123= Single submitter hyper-IgM syndrome type 1
- p.Ala173= Single submitter hyper-IgM syndrome type 1
- p.Arg11= Single submitter hyper-IgM syndrome type 1
- p.Arg207= Single submitter hyper-IgM syndrome type 1
- p.Asn109Lys Single submitter hyper-IgM syndrome type 1
- p.Asn157= Single submitter hyper-IgM syndrome type 1
- p.Asn240= Single submitter hyper-IgM syndrome type 1
- p.Asn83= Single submitter hyper-IgM syndrome type 1
- p.Asp55= Single submitter hyper-IgM syndrome type 1
- p.Cys218= Single submitter hyper-IgM syndrome type 1
- p.Gln139= Single submitter hyper-IgM syndrome type 1
- p.Gln220= Single submitter hyper-IgM syndrome type 1
- p.Gln90= Single submitter hyper-IgM syndrome type 1
- p.Glu104= Single submitter hyper-IgM syndrome type 1
- p.Glu129= Single submitter hyper-IgM syndrome type 1
- p.Gly199= Single submitter hyper-IgM syndrome type 1
- p.Gly250= Single submitter hyper-IgM syndrome type 1
- p.His125= Single submitter hyper-IgM syndrome type 1
- p.His249= Single submitter hyper-IgM syndrome type 1
- p.His60= Single submitter hyper-IgM syndrome type 1
- p.Leu168= Single submitter hyper-IgM syndrome type 1
- p.Leu17= Single submitter hyper-IgM syndrome type 1
- p.Leu206= Single submitter hyper-IgM syndrome type 1
- p.Leu225= Single submitter hyper-IgM syndrome type 1
- p.Leu79= Single submitter hyper-IgM syndrome type 1
- p.Lys88= Single submitter hyper-IgM syndrome type 1
- p.Phe189= Single submitter hyper-IgM syndrome type 1
- p.Phe201= Single submitter hyper-IgM syndrome type 1
- p.Phe256= Single submitter hyper-IgM syndrome type 1
- p.Pro120= Single submitter hyper-IgM syndrome type 1
- p.Ser128= Single submitter hyper-IgM syndrome type 1
- p.Ser184= Single submitter hyper-IgM syndrome type 1
- p.Ser255= Single submitter hyper-IgM syndrome type 1
- p.Thr147= Single submitter hyper-IgM syndrome type 1
- p.Thr211= Single submitter hyper-IgM syndrome type 1
- p.Thr251= Single submitter hyper-IgM syndrome type 1
- p.Thr74= Single submitter hyper-IgM syndrome type 1
- p.Tyr172= Single submitter hyper-IgM syndrome type 1
- p.Val175= Single submitter hyper-IgM syndrome type 1
- c.289-37_289-36del No assertion criteria CD40LG-related disorder
- c.-6C>T No assertion criteria CD40LG-related disorder
Uncertain significance 79
- c.409+3A>T Multiple submitters hyper-IgM syndrome type 1
- p.Ala123Val Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Glu112Gly Multiple submitters ⚠
- p.Gly116Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile127Val Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Ile223Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile33Asn Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Lys143Asn Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Pro188Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro188Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser236Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val228Leu Multiple submitters hyper-IgM syndrome type 1 ⚠
- p.Val247Met Multiple submitters hyper-IgM syndrome type 1 ⚠
- c.156+4A>G Single submitter hyper-IgM syndrome type 1
- c.288+6C>T Single submitter hyper-IgM syndrome type 1
- c.346+4G>A Single submitter hyper-IgM syndrome type 1
- c.346+5G>T Single submitter hyper-IgM syndrome type 1
- c.347-915A>T Single submitter hyper-IgM syndrome type 1
- c.410-3_410-2del Single submitter hyper-IgM syndrome type 1
- p.Ala13Glu Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ala215Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Arg181Trp Single submitter Inborn genetic diseases ⚠
- p.Arg203Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Asn157Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Asp117Asn Single submitter hyper-IgM syndrome type 1 ⚠
- p.Asp97Gly Single submitter hyper-IgM syndrome type 1 ⚠
- p.Cys218Arg Single submitter Inborn genetic diseases ⚠
- p.Gln160Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gln70Glu Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gln90His Single submitter hyper-IgM syndrome type 1 ⚠
- p.Glu3Lys Single submitter hyper-IgM syndrome type 1 ⚠
- p.Glu54del Single submitter hyper-IgM syndrome type 1
- p.Glu86Lys Single submitter ⚠
- p.Gly144Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gly167Val Single submitter hyper-IgM syndrome type 1 ⚠
- p.Gly226Ala Single submitter ⚠
- p.Gly226Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.His212Tyr Single submitter hyper-IgM syndrome type 1 ⚠
- p.His249Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile122Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ile171Asn Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ile190Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ile19Ser Single submitter Inborn genetic diseases ⚠
- p.Ile53Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ile98Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu100Val Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu17Val Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu193Arg Single submitter ⚠
- p.Leu205Ser Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu231Trp Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu258Ser Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu41Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu46Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Leu59Ile Single submitter hyper-IgM syndrome type 1 ⚠
- p.Lys96Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Met25Val Single submitter hyper-IgM syndrome type 1 ⚠
- p.Met36Ile Single submitter hyper-IgM syndrome type 1 ⚠
- p.Met36Thr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser110Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser131Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser132Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser184Leu Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser184Trp Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser20Arg Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser222Tyr Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser80Pro Single submitter hyper-IgM syndrome type 1 ⚠
- p.Ser9Phe Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr105Lys Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr135del Single submitter hyper-IgM syndrome type 1
- p.Thr176Ile Single submitter hyper-IgM syndrome type 1 ⚠
- p.Thr254= Single submitter hyper-IgM syndrome type 1
- p.Thr68Met Single submitter hyper-IgM syndrome type 1 ⚠
- p.Tyr145Asn Single submitter hyper-IgM syndrome type 1 ⚠
- p.Tyr145His Single submitter hyper-IgM syndrome type 1 ⚠
- p.Tyr170del Single submitter hyper-IgM syndrome type 1
- p.Tyr172Asp Single submitter hyper-IgM syndrome type 1 ⚠
- p.Val126Phe Single submitter hyper-IgM syndrome type 1 ⚠
- p.Val163Ter Single submitter hyper-IgM syndrome type 1
- p.Val247Ala Single submitter hyper-IgM syndrome type 1 ⚠