AICDA — 286 ClinVar variants
All ClinVar germline AICDA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
15 Pathogenic · 6 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 7 Conflicting · 23 Benign · 3 Benign/Likely benign · 90 Likely benign · 130 Uncertain significance
Full AICDA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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.
-
AICDA p.Ala111Thr
Conflicting
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Gly100Ala
Conflicting
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Gly125Glu
Conflicting
Single submitter
hyper-IgM syndrome type 2
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AICDA p.Arg190Gly
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 2
-
AICDA p.Glu153Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Ile136Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Phe97Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Ala192Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ala91Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg127Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg128Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AICDA p.Arg171Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg178His
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg178Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg190Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg74Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg8Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asn7Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp118Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp118Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp118Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp143Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp143Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp45Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp67Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp67Glu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Glu117Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Glu156Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Glu185Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Gly125Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Gly133Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Gly54Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
- AICDA p.Gly73Asp Uncertain significance Single submitter
-
AICDA p.His155Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.His93Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ile136Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ile136Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Leu172Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Lys10Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Lys142Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AICDA p.Phe109Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Phe141Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Phe15Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Phe61Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Phe97Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Pro123Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Pro86Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ser38Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ser43Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ser43Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Thr27Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Trp80Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Tyr28His
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Tyr64Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Tyr64His
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val134Met
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val57Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
Predictors split 38
The independent predictors disagree with each other — read with care.
-
AICDA p.Ala95Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Ala95Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Arg131Cys
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 2
-
AICDA p.Arg50Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Cys87Arg
Pathogenic
Multiple submitters
hyper-IgM syndrome type 2
-
AICDA p.Gly54Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 2
-
AICDA p.Thr110Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AICDA p.Ala95Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg119Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg119His
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg157Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg171Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg25Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg36Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg77His
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg8Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Arg99Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp191Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Asp89Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Cys87Gly
Conflicting
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Glu124Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.His166Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ile108Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Leu5Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AICDA p.Leu60Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Leu70Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Pro102Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Pro182Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Pro72Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AICDA p.Ser173Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Ser66Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Thr110Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Thr140Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Thr82Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val186Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val32Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val78Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
-
AICDA p.Val94Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 2
All AICDA variants
Pathogenic 15
- p.Arg112Cys Multiple submitters hyper-IgM syndrome type 2
- p.Arg24Trp Multiple submitters hyper-IgM syndrome type 2
- p.Arg99Ter Multiple submitters hyper-IgM syndrome type 2
- p.Cys147Ter Multiple submitters hyper-IgM syndrome type 2
- p.Cys87Arg Multiple submitters hyper-IgM syndrome type 2 ⚠
- p.Met139Thr Multiple submitters hyper-IgM syndrome type 2
- p.Met139Val Multiple submitters hyper-IgM syndrome type 2
- p.Trp68Ter Multiple submitters hyper-IgM syndrome type 2
- p.Ala137fs Single submitter hyper-IgM syndrome type 2
- p.Leu113Pro Single submitter hyper-IgM syndrome type 2
- p.Tyr114Ter Single submitter hyper-IgM syndrome type 2
- p.Tyr31Ter Single submitter hyper-IgM syndrome type 2
- p.Leu106Pro No assertion criteria hyper-IgM syndrome type 2
- p.Leu59_Leu62delinsPhe No assertion criteria hyper-IgM syndrome type 2
- p.Phe151Ser No assertion criteria hyper-IgM syndrome type 2
Pathogenic/Likely pathogenic 6
- p.Arg190Ter Multiple submitters hyper-IgM syndrome type 2
- p.Arg92Ter Multiple submitters hyper-IgM syndrome type 2
- p.Cys87Ser Multiple submitters AICDA-related disorder
- p.Gln135Ter Multiple submitters hyper-IgM syndrome type 2
- p.Trp84Ter Multiple submitters hyper-IgM syndrome type 2
- p.Val57Met Multiple submitters hyper-IgM syndrome type 2
Likely pathogenic 12
- p.Tyr31Cys Multiple submitters hyper-IgM syndrome type 2
- c.4_8+3del Single submitter hyper-IgM syndrome type 2
- c.427+1G>A Single submitter hyper-IgM syndrome type 2
- c.427+2T>C Single submitter hyper-IgM syndrome type 2
- c.428-1G>T Single submitter
- c.544-2A>G Single submitter hyper-IgM syndrome type 2
- c.8+1G>C Single submitter hyper-IgM syndrome type 2
- p.Ala111Glu Single submitter hyper-IgM syndrome type 2
- p.Arg24Gln Single submitter hyper-IgM syndrome type 2
- p.Arg8fs Single submitter hyper-IgM syndrome type 2
- p.Leu98Arg Single submitter hyper-IgM syndrome type 2
- p.Met139Ile Single submitter hyper-IgM syndrome type 2
Conflicting classifications of pathogenicity 7
- c.427+4C>T Single submitter hyper-IgM syndrome type 2
- p.Ala111Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Cys87Gly Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly100Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly125Glu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Leu126= Single submitter hyper-IgM syndrome type 2
- p.Lys16= Single submitter hyper-IgM syndrome type 2
Benign 23
- c.156+16G>A Multiple submitters hyper-IgM syndrome type 2
- c.428-17dup Multiple submitters hyper-IgM syndrome type 2
- c.-84A>G Multiple submitters hyper-IgM syndrome type 2
- c.*1028C>T Multiple submitters hyper-IgM syndrome type 2
- c.*1206C>T Multiple submitters hyper-IgM syndrome type 2
- c.*1297G>A Multiple submitters hyper-IgM syndrome type 2
- c.*1666G>T Multiple submitters hyper-IgM syndrome type 2
- c.*1694A>G Multiple submitters hyper-IgM syndrome type 2
- c.*309T>C Multiple submitters hyper-IgM syndrome type 2
- c.*89A>C Multiple submitters hyper-IgM syndrome type 2
- p.Asp89= Multiple submitters hyper-IgM syndrome type 2
- p.His155= Multiple submitters hyper-IgM syndrome type 2
- p.Pro123= Multiple submitters hyper-IgM syndrome type 2
- p.Thr195= Multiple submitters hyper-IgM syndrome type 2
- c.428-18C>T Single submitter hyper-IgM syndrome type 2
- c.543+110T>G Single submitter
- c.544-160del Single submitter
- c.544-161_544-160del Single submitter
- c.544-164_544-160del Single submitter
- c.9-328G>A Single submitter
- c.*1089C>T Single submitter hyper-IgM syndrome type 2
- c.*38T>C Single submitter hyper-IgM syndrome type 2
- c.*718C>A Single submitter hyper-IgM syndrome type 2
Benign/Likely benign 3
- c.428-17_428-16dup Multiple submitters hyper-IgM syndrome type 2
- p.Arg25His Multiple submitters hyper-IgM syndrome type 2
- p.Leu70= Multiple submitters hyper-IgM syndrome type 2
Likely benign 90
- c.156+10A>C Single submitter hyper-IgM syndrome type 2
- c.156+11_156+12del Single submitter hyper-IgM syndrome type 2
- c.156+11A>C Single submitter hyper-IgM syndrome type 2
- c.156+15C>T Single submitter hyper-IgM syndrome type 2
- c.156+241G>A Single submitter
- c.157-10G>A Single submitter hyper-IgM syndrome type 2
- c.157-11T>C Single submitter hyper-IgM syndrome type 2
- c.157-16dup Single submitter hyper-IgM syndrome type 2
- c.157-17C>T Single submitter hyper-IgM syndrome type 2
- c.157-18T>C Single submitter hyper-IgM syndrome type 2
- c.157-19G>A Single submitter hyper-IgM syndrome type 2
- c.157-5T>C Single submitter hyper-IgM syndrome type 2
- c.427+11G>A Single submitter hyper-IgM syndrome type 2
- c.427+13C>T Single submitter hyper-IgM syndrome type 2
- c.427+18G>A Single submitter hyper-IgM syndrome type 2
- c.427+19C>T Single submitter hyper-IgM syndrome type 2
- c.427+8A>G Single submitter hyper-IgM syndrome type 2
- c.428-10_428-5del Single submitter hyper-IgM syndrome type 2
- c.428-13_428-12insC Single submitter hyper-IgM syndrome type 2
- c.428-13_428-5del Single submitter
- c.428-18_428-17insCT Single submitter hyper-IgM syndrome type 2
- c.428-18_428-17insCTT Single submitter hyper-IgM syndrome type 2
- c.428-18dup Single submitter hyper-IgM syndrome type 2
- c.428-19C>T Single submitter hyper-IgM syndrome type 2
- c.428-4G>T Single submitter
- c.428-5del Single submitter hyper-IgM syndrome type 2
- c.428-8_428-7insC Single submitter hyper-IgM syndrome type 2
- c.428-9_428-8insTC Single submitter hyper-IgM syndrome type 2
- c.543+8G>A Single submitter hyper-IgM syndrome type 2
- c.544-15T>C Single submitter hyper-IgM syndrome type 2
- c.544-160dup Single submitter
- c.544-20G>T Single submitter hyper-IgM syndrome type 2
- c.544-4A>G Single submitter hyper-IgM syndrome type 2
- c.8+129T>C Single submitter
- c.8+12G>T Single submitter hyper-IgM syndrome type 2
- c.8+14C>T Single submitter hyper-IgM syndrome type 2
- c.8+19C>T Single submitter hyper-IgM syndrome type 2
- c.8+20G>A Single submitter hyper-IgM syndrome type 2
- c.8+20G>C Single submitter hyper-IgM syndrome type 2
- c.8+20G>T Single submitter hyper-IgM syndrome type 2
- c.9-11C>G Single submitter hyper-IgM syndrome type 2
- c.9-13_9-11del Single submitter hyper-IgM syndrome type 2
- c.9-16C>G Single submitter hyper-IgM syndrome type 2
- c.9-637G>A Single submitter
- c.9-9C>T Single submitter hyper-IgM syndrome type 2
- c.*1139A>G Single submitter hyper-IgM syndrome type 2
- c.*1662C>A Single submitter hyper-IgM syndrome type 2
- c.*1704C>T Single submitter hyper-IgM syndrome type 2
- c.*1934C>T Single submitter hyper-IgM syndrome type 2
- c.*470C>G Single submitter hyper-IgM syndrome type 2
- c.*958A>G Single submitter hyper-IgM syndrome type 2
- p.Ala111= Single submitter hyper-IgM syndrome type 2
- p.Ala121= Single submitter hyper-IgM syndrome type 2
- p.Ala161= Single submitter hyper-IgM syndrome type 2
- p.Ala192= Single submitter hyper-IgM syndrome type 2
- p.Arg112= Single submitter hyper-IgM syndrome type 2
- p.Arg127= Single submitter hyper-IgM syndrome type 2
- p.Arg128= Single submitter hyper-IgM syndrome type 2
- p.Arg190= Single submitter hyper-IgM syndrome type 2
- p.Arg25= Single submitter hyper-IgM syndrome type 2
- p.Arg50= Single submitter hyper-IgM syndrome type 2
- p.Arg63= Single submitter hyper-IgM syndrome type 2
- p.Arg77= Single submitter hyper-IgM syndrome type 2
- p.Arg9= Single submitter hyper-IgM syndrome type 2
- p.Arg92= Single submitter hyper-IgM syndrome type 2
- p.Asn149= Single submitter hyper-IgM syndrome type 2
- p.Asn7= Single submitter hyper-IgM syndrome type 2
- p.Asp191= Single submitter hyper-IgM syndrome type 2
- p.Asp45= Single submitter hyper-IgM syndrome type 2
- p.Asp71= Single submitter hyper-IgM syndrome type 2
- p.Cys116= Single submitter hyper-IgM syndrome type 2
- p.Gln135= Single submitter hyper-IgM syndrome type 2
- p.Glu156= Single submitter hyper-IgM syndrome type 2
- p.Gly100= Single submitter hyper-IgM syndrome type 2
- p.Gly125= Single submitter hyper-IgM syndrome type 2
- p.Gly133= Single submitter hyper-IgM syndrome type 2
- p.His56= Single submitter hyper-IgM syndrome type 2
- p.Ile179= Single submitter hyper-IgM syndrome type 2
- p.Ile65= Single submitter hyper-IgM syndrome type 2
- p.Leu129= Single submitter hyper-IgM syndrome type 2
- p.Leu183= Single submitter hyper-IgM syndrome type 2
- p.Leu5= Single submitter hyper-IgM syndrome type 2
- p.Leu59= Single submitter hyper-IgM syndrome type 2
- p.Leu98= Single submitter hyper-IgM syndrome type 2
- p.Pro86= Single submitter hyper-IgM syndrome type 2
- p.Thr110= Single submitter hyper-IgM syndrome type 2
- p.Thr27= Single submitter hyper-IgM syndrome type 2
- p.Tyr31= Single submitter hyper-IgM syndrome type 2
- p.Val134= Single submitter hyper-IgM syndrome type 2
- p.Val152= Single submitter hyper-IgM syndrome type 2
Uncertain significance 130
- c.*1136A>G Multiple submitters hyper-IgM syndrome type 2
- p.Ala95Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala95Phe Multiple submitters hyper-IgM syndrome type 2
- p.Ala95Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg131Cys Multiple submitters hyper-IgM syndrome type 2 ⚠
- p.Arg190Gly Multiple submitters hyper-IgM syndrome type 2 ⚠
- p.Arg50Cys Multiple submitters Inborn genetic diseases ⚠
- p.Glu153Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly54Arg Multiple submitters hyper-IgM syndrome type 2 ⚠
- p.Ile136Met Multiple submitters Inborn genetic diseases ⚠
- p.Phe97Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr110Ile Multiple submitters Inborn genetic diseases ⚠
- c.427+6A>C Single submitter hyper-IgM syndrome type 2
- c.544-3C>T Single submitter hyper-IgM syndrome type 2
- c.9-12_9-11delinsAA Single submitter hyper-IgM syndrome type 2
- c.-87A>T Single submitter hyper-IgM syndrome type 2
- c.*1010C>T Single submitter hyper-IgM syndrome type 2
- c.*1025G>A Single submitter hyper-IgM syndrome type 2
- c.*1083T>C Single submitter hyper-IgM syndrome type 2
- c.*1106A>G Single submitter hyper-IgM syndrome type 2
- c.*1137A>G Single submitter hyper-IgM syndrome type 2
- c.*1138A>G Single submitter hyper-IgM syndrome type 2
- c.*1173C>T Single submitter hyper-IgM syndrome type 2
- c.*1213A>G Single submitter hyper-IgM syndrome type 2
- c.*1226A>C Single submitter hyper-IgM syndrome type 2
- c.*1262C>T Single submitter hyper-IgM syndrome type 2
- c.*1296C>T Single submitter hyper-IgM syndrome type 2
- c.*1313G>C Single submitter hyper-IgM syndrome type 2
- c.*1380A>G Single submitter hyper-IgM syndrome type 2
- c.*1453A>G Single submitter hyper-IgM syndrome type 2
- c.*1455G>A Single submitter hyper-IgM syndrome type 2
- c.*1684T>C Single submitter hyper-IgM syndrome type 2
- c.*1802T>C Single submitter hyper-IgM syndrome type 2
- c.*235C>G Single submitter hyper-IgM syndrome type 2
- c.*288C>T Single submitter hyper-IgM syndrome type 2
- c.*38T>G Single submitter hyper-IgM syndrome type 2
- c.*446G>A Single submitter hyper-IgM syndrome type 2
- c.*554T>C Single submitter hyper-IgM syndrome type 2
- c.*556T>G Single submitter hyper-IgM syndrome type 2
- c.*625T>C Single submitter hyper-IgM syndrome type 2
- c.*670A>T Single submitter hyper-IgM syndrome type 2
- c.*67C>T Single submitter hyper-IgM syndrome type 2
- c.*771T>A Single submitter hyper-IgM syndrome type 2
- c.*804A>T Single submitter hyper-IgM syndrome type 2
- c.*837A>G Single submitter hyper-IgM syndrome type 2
- p.Ala192Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ala91Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ala95Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg119Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg119His Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg127Trp Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg128Leu Single submitter Inborn genetic diseases ⚠
- p.Arg157Ile Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg171Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg171Gly Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg178His Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg178Pro Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg190Gln Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg25Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg36Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg74Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg77His Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg8Gln Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg8Trp Single submitter hyper-IgM syndrome type 2 ⚠
- p.Arg99Gln Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asn7Lys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp118Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp118Asn Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp118Gly Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp143Tyr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp143Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp191Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp37_Ser38del Single submitter hyper-IgM syndrome type 2
- p.Asp45Asn Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp67Asn Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp67Glu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Asp89Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Glu117Gly Single submitter hyper-IgM syndrome type 2 ⚠
- p.Glu124Lys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Glu156Lys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Glu185Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly125Arg Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly133Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly54Ser Single submitter hyper-IgM syndrome type 2 ⚠
- p.Gly73Asp Single submitter ⚠
- p.His155Arg Single submitter hyper-IgM syndrome type 2
- p.His155Gln Single submitter hyper-IgM syndrome type 2 ⚠
- p.His166Tyr Single submitter hyper-IgM syndrome type 2 ⚠
- p.His93Arg Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ile108Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ile136Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ile136Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Leu172Phe Single submitter hyper-IgM syndrome type 2 ⚠
- p.Leu189Ter Single submitter hyper-IgM syndrome type 2
- p.Leu5Met Single submitter Inborn genetic diseases ⚠
- p.Leu60Phe Single submitter hyper-IgM syndrome type 2 ⚠
- p.Leu70Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Lys10Arg Single submitter hyper-IgM syndrome type 2 ⚠
- p.Lys142Arg Single submitter Inborn genetic diseases ⚠
- p.Phe109Ser Single submitter hyper-IgM syndrome type 2 ⚠
- p.Phe141Tyr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Phe15Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Phe61Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Phe97Val Single submitter hyper-IgM syndrome type 2 ⚠
- p.Pro102Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Pro123Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Pro182Ser Single submitter hyper-IgM syndrome type 2 ⚠
- p.Pro72Ala Single submitter Inborn genetic diseases ⚠
- p.Pro86Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ser173Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ser38Gly Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ser43Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ser43Thr Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ser66Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Ter199Arg Single submitter hyper-IgM syndrome type 2
- p.Thr110Ser Single submitter hyper-IgM syndrome type 2 ⚠
- p.Thr140Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Thr27Ile Single submitter hyper-IgM syndrome type 2 ⚠
- p.Thr82Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Trp80Arg Single submitter hyper-IgM syndrome type 2 ⚠
- p.Tyr184Ter Single submitter hyper-IgM syndrome type 2
- p.Tyr28His Single submitter hyper-IgM syndrome type 2 ⚠
- p.Tyr64Cys Single submitter hyper-IgM syndrome type 2 ⚠
- p.Tyr64His Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val134Met Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val186Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val32Ile Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val57Ala Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val78Leu Single submitter hyper-IgM syndrome type 2 ⚠
- p.Val94Ala Single submitter hyper-IgM syndrome type 2 ⚠