UNG — 290 ClinVar variants
All ClinVar germline UNG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
15 Pathogenic · 7 Likely pathogenic · 11 Conflicting · 19 Benign · 1 Benign/Likely benign · 102 Likely benign · 135 Uncertain significance
Full UNG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UNG p.Arg122Ser
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gln139Lys
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gln222Glu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gln29Pro
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gly164Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.His124Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.His163Asp
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.His163Gln
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.His198Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Lys78Glu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Phe11Ser
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Ser12Thr
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Val90Leu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Ala34Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ala45Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Arg229Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Asn181Asp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Asn213Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Asp309Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Glu312Lys
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Glu57Val Uncertain significance Single submitter
-
UNG p.Glu96Asp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.His163Arg Uncertain significance Single submitter
-
UNG p.His163Tyr
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.His195Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Leu151Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Leu211Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Leu211Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Leu212Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Lys5Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Phe106Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro176Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro196Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro26Ser
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro280Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro52Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser225Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser246Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser64Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Thr275Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Thr275Ser Uncertain significance Single submitter
-
UNG p.Val146Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Val148Phe Uncertain significance Single submitter
-
UNG p.Val218Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
Predictors split 54
The independent predictors disagree with each other — read with care.
-
UNG p.Ala21Thr
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Ala87Val
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Asn77Lys
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gln133His
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Gln207Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.His271Arg
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Ile182Val
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Pro172Ala
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Pro174Leu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Pro22Leu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Pro58Leu
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Thr275Met
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Tyr257His
Uncertain significance
Multiple submitters
hyper-IgM syndrome type 5
-
UNG p.Ala214Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ala21Val
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ala237Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Ala86Val Uncertain significance Single submitter
- UNG p.Arg229Gly Uncertain significance Single submitter
- UNG p.Arg267Gly Uncertain significance Single submitter
-
UNG p.Arg269Trp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Arg88Cys
Conflicting
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Arg88Pro
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Asn89Asp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Asn89Ser Uncertain significance Single submitter
-
UNG p.Asp266His
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Cys290Gly
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Gln133Glu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Gln170Glu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Gly304Asp
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ile190Met
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Lys113Arg Uncertain significance Single submitter
- UNG p.Lys113Asn Uncertain significance Single submitter
-
UNG p.Lys49Arg
Likely benign
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Met115Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Pro130Leu Uncertain significance Single submitter
-
UNG p.Pro130Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro131Leu
Likely benign
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro172Thr
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro175Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro175Leu
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro26Gln
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro65Leu
Conflicting
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Pro91Ala
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser12Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
- UNG p.Ser294Thr Uncertain significance Single submitter
-
UNG p.Ser63Phe
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser67Asn
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Ser97Cys
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- UNG p.Thr188Arg Uncertain significance Single submitter
- UNG p.Thr6Ala Uncertain significance Single submitter
-
UNG p.Trp241Arg
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Tyr183Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Tyr284Cys
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
-
UNG p.Val194Ile
Uncertain significance
Single submitter
hyper-IgM syndrome type 5
All UNG variants
Pathogenic 15
- p.Gln55fs Multiple submitters hyper-IgM syndrome type 5
- p.Arg122fs Single submitter hyper-IgM syndrome type 5
- p.Arg229Ter Single submitter hyper-IgM syndrome type 5
- p.Arg84fs Single submitter hyper-IgM syndrome type 5
- p.Gln244Ter Single submitter hyper-IgM syndrome type 5
- p.Glu228fs Single submitter hyper-IgM syndrome type 5
- p.Ile190fs Single submitter hyper-IgM syndrome type 5
- p.Phe117fs Single submitter hyper-IgM syndrome type 5
- p.Pro131fs Single submitter hyper-IgM syndrome type 5
- p.Ser14fs Single submitter hyper-IgM syndrome type 5
- p.Ser97_Trp98insTer Single submitter hyper-IgM syndrome type 5
- p.Thr217fs Single submitter hyper-IgM syndrome type 5
- p.Glu191fs No assertion criteria hyper-IgM syndrome type 5
- p.Ile143fs No assertion criteria hyper-IgM syndrome type 5
- p.Phe251Ser No assertion criteria hyper-IgM syndrome type 5
Likely pathogenic 7
- c.133-2A>G Single submitter hyper-IgM syndrome type 5
- c.533+1G>T Single submitter hyper-IgM syndrome type 5
- c.623-2A>G Single submitter hyper-IgM syndrome type 5
- p.Gly152Ter Single submitter hyper-IgM syndrome type 5
- p.Lys184fs Single submitter hyper-IgM syndrome type 5
- p.Ser103fs Single submitter
- p.Trp98Ter Single submitter hyper-IgM syndrome type 5
Conflicting classifications of pathogenicity 11
- c.435+15T>A Single submitter hyper-IgM syndrome type 5
- c.533+6G>A Single submitter hyper-IgM syndrome type 5
- p.Ala220= Single submitter hyper-IgM syndrome type 5
- p.Ala27= Single submitter hyper-IgM syndrome type 5
- p.Ala68= Single submitter hyper-IgM syndrome type 5
- p.Arg88Cys Single submitter hyper-IgM syndrome type 5 ⚠
- p.Glu105Ter Single submitter hyper-IgM syndrome type 5
- p.Leu82= Single submitter hyper-IgM syndrome type 5
- p.Pro61= Single submitter hyper-IgM syndrome type 5
- p.Pro65Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Thr275= Single submitter hyper-IgM syndrome type 5
Benign 19
- c.133-221C>T Multiple submitters
- c.339+116A>C Multiple submitters
- c.534-25dup Multiple submitters
- c.623-67T>C Multiple submitters
- c.802-47T>A Multiple submitters
- c.802-48A>T Multiple submitters
- p.Leu253= Multiple submitters hyper-IgM syndrome type 5
- p.Pro176= Multiple submitters hyper-IgM syndrome type 5
- p.Ser97= Multiple submitters hyper-IgM syndrome type 5
- c.339+17A>C Single submitter hyper-IgM syndrome type 5
- c.622+42dup Single submitter
- c.801+24_801+27del Single submitter hyper-IgM syndrome type 5
- c.801+27dup Single submitter hyper-IgM syndrome type 5
- c.802-48_802-47insAAAAT Single submitter
- c.802-48_802-47insAAAT Single submitter
- c.802-48_802-47insAAT Single submitter
- c.802-53_802-48dup Single submitter
- c.*1013T>A Single submitter hyper-IgM syndrome type 5
- p.Phe193Leu Single submitter hyper-IgM syndrome type 5
Benign/Likely benign 1
- c.622+10C>T Multiple submitters hyper-IgM syndrome type 5
Likely benign 102
- c.339+11A>C Multiple submitters hyper-IgM syndrome type 5
- p.Gly30= Multiple submitters hyper-IgM syndrome type 5
- p.Ile308= Multiple submitters hyper-IgM syndrome type 5
- p.Leu281Phe Multiple submitters hyper-IgM syndrome type 5
- c.133-13_133-10dup Single submitter hyper-IgM syndrome type 5
- c.133-19C>T Single submitter hyper-IgM syndrome type 5
- c.133-7C>T Single submitter hyper-IgM syndrome type 5
- c.133-8A>C Single submitter hyper-IgM syndrome type 5
- c.133-8A>G Single submitter hyper-IgM syndrome type 5
- c.339+13A>G Single submitter hyper-IgM syndrome type 5
- c.339+15G>A Single submitter hyper-IgM syndrome type 5
- c.339+18C>T Single submitter hyper-IgM syndrome type 5
- c.340-20C>T Single submitter hyper-IgM syndrome type 5
- c.435+11C>T Single submitter hyper-IgM syndrome type 5
- c.435+15T>C Single submitter hyper-IgM syndrome type 5
- c.435+9A>G Single submitter hyper-IgM syndrome type 5
- c.436-19G>A Single submitter hyper-IgM syndrome type 5
- c.436-5C>T Single submitter
- c.533+15C>G Single submitter hyper-IgM syndrome type 5
- c.533+17G>T Single submitter hyper-IgM syndrome type 5
- c.533+18G>A Single submitter hyper-IgM syndrome type 5
- c.534-14T>C Single submitter hyper-IgM syndrome type 5
- c.622+11G>A Single submitter hyper-IgM syndrome type 5
- c.622+16C>T Single submitter hyper-IgM syndrome type 5
- c.622+18dup Single submitter hyper-IgM syndrome type 5
- c.622+19G>C Single submitter hyper-IgM syndrome type 5
- c.622+20A>T Single submitter hyper-IgM syndrome type 5
- c.622+9G>T Single submitter hyper-IgM syndrome type 5
- c.623-10_623-9del Single submitter hyper-IgM syndrome type 5
- c.623-11C>G Single submitter hyper-IgM syndrome type 5
- c.623-13C>G Single submitter hyper-IgM syndrome type 5
- c.623-15C>A Single submitter hyper-IgM syndrome type 5
- c.623-15C>T Single submitter hyper-IgM syndrome type 5
- c.623-9T>C Single submitter hyper-IgM syndrome type 5
- c.801+14T>C Single submitter hyper-IgM syndrome type 5
- c.801+16T>C Single submitter hyper-IgM syndrome type 5
- c.801+18T>C Single submitter hyper-IgM syndrome type 5
- c.801+19_801+21del Single submitter hyper-IgM syndrome type 5
- c.801+19_801+22del Single submitter hyper-IgM syndrome type 5
- c.802-12G>C Single submitter hyper-IgM syndrome type 5
- c.802-15C>A Single submitter hyper-IgM syndrome type 5
- c.802-18A>G Single submitter hyper-IgM syndrome type 5
- c.802-20T>G Single submitter hyper-IgM syndrome type 5
- c.802-48del Single submitter
- c.802-51_802-48dup Single submitter
- c.802-9C>T Single submitter hyper-IgM syndrome type 5
- c.*463C>T Single submitter hyper-IgM syndrome type 5
- c.*708T>C Single submitter hyper-IgM syndrome type 5
- p.Ala162= Single submitter hyper-IgM syndrome type 5
- p.Ala34= Single submitter hyper-IgM syndrome type 5
- p.Ala45= Single submitter hyper-IgM syndrome type 5
- p.Ala51= Single submitter hyper-IgM syndrome type 5
- p.Ala53= Single submitter hyper-IgM syndrome type 5
- p.Ala79= Single submitter hyper-IgM syndrome type 5
- p.Arg171= Single submitter hyper-IgM syndrome type 5
- p.Asn213= Single submitter hyper-IgM syndrome type 5
- p.Asn89= Single submitter hyper-IgM syndrome type 5
- p.Asp42= Single submitter hyper-IgM syndrome type 5
- p.Gln244= Single submitter hyper-IgM syndrome type 5
- p.Glu232= Single submitter hyper-IgM syndrome type 5
- p.Glu56= Single submitter hyper-IgM syndrome type 5
- p.Gly104= Single submitter hyper-IgM syndrome type 5
- p.Gly248= Single submitter hyper-IgM syndrome type 5
- p.Gly286= Single submitter hyper-IgM syndrome type 5
- p.Gly93= Single submitter hyper-IgM syndrome type 5
- p.Gly95= Single submitter hyper-IgM syndrome type 5
- p.His101= Single submitter hyper-IgM syndrome type 5
- p.His157= Single submitter hyper-IgM syndrome type 5
- p.His163= Single submitter hyper-IgM syndrome type 5
- p.His20= Single submitter hyper-IgM syndrome type 5
- p.Ile46= Single submitter hyper-IgM syndrome type 5
- p.Leu165= Single submitter hyper-IgM syndrome type 5
- p.Leu186= Single submitter hyper-IgM syndrome type 5
- p.Leu211= Single submitter hyper-IgM syndrome type 5
- p.Leu273= Single submitter hyper-IgM syndrome type 5
- p.Leu299= Single submitter hyper-IgM syndrome type 5
- p.Leu313= Single submitter hyper-IgM syndrome type 5
- p.Lys108= Single submitter hyper-IgM syndrome type 5
- p.Lys227= Single submitter hyper-IgM syndrome type 5
- p.Lys261= Single submitter hyper-IgM syndrome type 5
- p.Lys302= Single submitter hyper-IgM syndrome type 5
- p.Lys49Arg Single submitter hyper-IgM syndrome type 5 ⚠
- p.Lys50= Single submitter hyper-IgM syndrome type 5
- p.Pro131Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro172= Single submitter hyper-IgM syndrome type 5
- p.Pro174= Single submitter hyper-IgM syndrome type 5
- p.Pro47= Single submitter hyper-IgM syndrome type 5
- p.Pro62= Single submitter hyper-IgM syndrome type 5
- p.Pro91= Single submitter hyper-IgM syndrome type 5
- p.Ser12= Single submitter hyper-IgM syndrome type 5
- p.Ser225= Single submitter hyper-IgM syndrome type 5
- p.Ser246= Single submitter hyper-IgM syndrome type 5
- p.Ser63= Single submitter hyper-IgM syndrome type 5
- p.Thr136= Single submitter hyper-IgM syndrome type 5
- p.Thr217= Single submitter hyper-IgM syndrome type 5
- p.Thr296= Single submitter hyper-IgM syndrome type 5
- p.Tyr257= Single submitter hyper-IgM syndrome type 5
- p.Val134= Single submitter hyper-IgM syndrome type 5
- p.Val173= Single submitter hyper-IgM syndrome type 5
- p.Val218= Single submitter hyper-IgM syndrome type 5
- p.Val250= Single submitter hyper-IgM syndrome type 5
- c.133-110C>T No assertion criteria UNG-related disorder
Uncertain significance 135
- c.623-9T>A Multiple submitters hyper-IgM syndrome type 5
- c.801+5G>A Multiple submitters hyper-IgM syndrome type 5
- p.Ala21Thr Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Ala87Val Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Arg122Ser Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Asn77Lys Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gln133His Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gln139Lys Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gln207Arg Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gln222Glu Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gln29Pro Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Gly164Arg Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.His124Arg Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.His163Asp Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.His163Gln Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.His198Arg Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.His271Arg Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Ile182Val Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Lys78Glu Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Phe11Ser Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Pro172Ala Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Pro174Leu Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Pro22Leu Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Pro58Leu Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Ser12Thr Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Thr275Met Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Tyr257His Multiple submitters hyper-IgM syndrome type 5 ⚠
- p.Val90Leu Multiple submitters hyper-IgM syndrome type 5 ⚠
- c.339+6T>C Single submitter
- c.340-3C>T Single submitter hyper-IgM syndrome type 5
- c.622+6C>G Single submitter hyper-IgM syndrome type 5
- c.802-6T>C Single submitter hyper-IgM syndrome type 5
- c.802-8T>A Single submitter hyper-IgM syndrome type 5
- c.-50G>A Single submitter hyper-IgM syndrome type 5
- c.-51A>G Single submitter hyper-IgM syndrome type 5
- c.-51A>T Single submitter hyper-IgM syndrome type 5
- c.-73C>T Single submitter hyper-IgM syndrome type 5
- c.*1018A>G Single submitter hyper-IgM syndrome type 5
- c.*109A>G Single submitter hyper-IgM syndrome type 5
- c.*111A>T Single submitter hyper-IgM syndrome type 5
- c.*129C>T Single submitter hyper-IgM syndrome type 5
- c.*159G>A Single submitter hyper-IgM syndrome type 5
- c.*281C>T Single submitter hyper-IgM syndrome type 5
- c.*2C>A Single submitter hyper-IgM syndrome type 5
- c.*313C>G Single submitter hyper-IgM syndrome type 5
- c.*376C>G Single submitter hyper-IgM syndrome type 5
- c.*445C>T Single submitter hyper-IgM syndrome type 5
- c.*522A>G Single submitter hyper-IgM syndrome type 5
- c.*537G>A Single submitter hyper-IgM syndrome type 5
- c.*545A>G Single submitter hyper-IgM syndrome type 5
- c.*573G>C Single submitter hyper-IgM syndrome type 5
- c.*611C>T Single submitter hyper-IgM syndrome type 5
- c.*655A>C Single submitter hyper-IgM syndrome type 5
- c.*699T>C Single submitter hyper-IgM syndrome type 5
- c.*70_*71del Single submitter
- c.*705T>C Single submitter hyper-IgM syndrome type 5
- c.*719G>A Single submitter hyper-IgM syndrome type 5
- c.*858T>G Single submitter hyper-IgM syndrome type 5
- c.*880A>T Single submitter hyper-IgM syndrome type 5
- p.Ala16_Pro24del Single submitter hyper-IgM syndrome type 5
- p.Ala214Thr Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ala21Val Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ala237Gly Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ala34Thr Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ala45Val Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg229Gln Single submitter hyper-IgM syndrome type 5 ⚠
- p.Arg229Gly Single submitter ⚠
- p.Arg267fs Single submitter
- p.Arg267Gly Single submitter ⚠
- p.Arg269Trp Single submitter hyper-IgM syndrome type 5 ⚠
- p.Arg88Pro Single submitter hyper-IgM syndrome type 5 ⚠
- p.Asn181Asp Single submitter hyper-IgM syndrome type 5 ⚠
- p.Asn213Ser Single submitter hyper-IgM syndrome type 5 ⚠
- p.Asn89Asp Single submitter hyper-IgM syndrome type 5 ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp266His Single submitter hyper-IgM syndrome type 5 ⚠
- p.Asp309Asn Single submitter hyper-IgM syndrome type 5 ⚠
- p.Cys290Gly Single submitter hyper-IgM syndrome type 5 ⚠
- p.Gln133= Single submitter hyper-IgM syndrome type 5
- p.Gln133Glu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Gln170Glu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Glu298Ter Single submitter hyper-IgM syndrome type 5
- p.Glu312Lys Single submitter hyper-IgM syndrome type 5 ⚠
- p.Glu57Val Single submitter ⚠
- p.Glu96Asp Single submitter hyper-IgM syndrome type 5 ⚠
- p.Gly304Asp Single submitter hyper-IgM syndrome type 5 ⚠
- p.His163Arg Single submitter ⚠
- p.His163Tyr Single submitter hyper-IgM syndrome type 5 ⚠
- p.His195Asn Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ile190Met Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ile2= Single submitter hyper-IgM syndrome type 5
- p.Leu151Pro Single submitter hyper-IgM syndrome type 5 ⚠
- p.Leu211Ile Single submitter hyper-IgM syndrome type 5 ⚠
- p.Leu211Phe Single submitter hyper-IgM syndrome type 5 ⚠
- p.Leu212Val Single submitter hyper-IgM syndrome type 5 ⚠
- p.Lys113Arg Single submitter ⚠
- p.Lys113Asn Single submitter ⚠
- p.Lys261del Single submitter hyper-IgM syndrome type 5
- p.Lys5Arg Single submitter hyper-IgM syndrome type 5 ⚠
- p.Met115Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Phe106Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro130Thr Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro172Thr Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro175Ala Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro175Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro176Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro196Ser Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro26Gln Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro26Ser Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro280Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro52Arg Single submitter hyper-IgM syndrome type 5 ⚠
- p.Pro91Ala Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser12Phe Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser168Ter Single submitter
- p.Ser225Phe Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser246Leu Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser294Thr Single submitter ⚠
- p.Ser63Phe Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser64Trp Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser67Asn Single submitter hyper-IgM syndrome type 5 ⚠
- p.Ser97Cys Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Thr188Arg Single submitter ⚠
- p.Thr275Arg Single submitter hyper-IgM syndrome type 5 ⚠
- p.Thr275Ser Single submitter ⚠
- p.Thr60_Pro61delinsGlnGluGlu Single submitter hyper-IgM syndrome type 5
- p.Thr6Ala Single submitter ⚠
- p.Trp241Arg Single submitter hyper-IgM syndrome type 5 ⚠
- p.Tyr183Cys Single submitter hyper-IgM syndrome type 5 ⚠
- p.Tyr284Cys Single submitter hyper-IgM syndrome type 5 ⚠
- p.Val146Gly Single submitter hyper-IgM syndrome type 5 ⚠
- p.Val148Phe Single submitter ⚠
- p.Val194Ile Single submitter hyper-IgM syndrome type 5 ⚠
- p.Val218Gly Single submitter hyper-IgM syndrome type 5 ⚠