ICOSLG — 312 ClinVar variants
All ClinVar germline ICOSLG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
3 Likely pathogenic · 11 Conflicting · 4 Benign · 7 Benign/Likely benign · 139 Likely benign · 148 Uncertain significance
Full ICOSLG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ICOSLG p.Ala206Thr Conflicting Single submitter
- ICOSLG p.Ala254Val Conflicting Single submitter
- ICOSLG p.Ala289Val Conflicting Single submitter
- ICOSLG p.Arg17Gln Conflicting Single submitter
- ICOSLG p.Gly229Ser Conflicting Single submitter
- ICOSLG p.Gly90Ser Conflicting Single submitter
- ICOSLG p.Pro294Leu Conflicting Single submitter
- ICOSLG p.Pro88Leu Conflicting Single submitter
- ICOSLG p.Val103Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 98
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ICOSLG p.Ala270Ser Uncertain significance Multiple submitters
- ICOSLG p.Ala27Val Uncertain significance Multiple submitters
- ICOSLG p.Arg194Gln Uncertain significance Multiple submitters
- ICOSLG p.Arg207Gln Uncertain significance Multiple submitters
- ICOSLG p.Arg280Gln Uncertain significance Multiple submitters
- ICOSLG p.Arg44His Uncertain significance Multiple submitters
- ICOSLG p.Arg81Trp Uncertain significance Multiple submitters
- ICOSLG p.Arg99Leu Uncertain significance Multiple submitters
- ICOSLG p.Glu108Gln Uncertain significance Multiple submitters
- ICOSLG p.Glu22Gln Uncertain significance Multiple submitters
- ICOSLG p.Glu238Gly Uncertain significance Multiple submitters
- ICOSLG p.Glu251Lys Uncertain significance Multiple submitters
- ICOSLG p.Gly250Ser Uncertain significance Multiple submitters
- ICOSLG p.Leu16Phe Uncertain significance Multiple submitters
- ICOSLG p.Trp275Cys Uncertain significance Multiple submitters
- ICOSLG p.Val140Gly Uncertain significance Multiple submitters
- ICOSLG p.Val140Leu Uncertain significance Multiple submitters
- ICOSLG p.Val142Ile Uncertain significance Multiple submitters
- ICOSLG p.Val143Ile Uncertain significance Multiple submitters
- ICOSLG p.Val189Ile Uncertain significance Multiple submitters
- ICOSLG p.Val25Ile Uncertain significance Multiple submitters
- ICOSLG p.Ala145Asp Uncertain significance Single submitter
- ICOSLG p.Ala145Val Uncertain significance Single submitter
- ICOSLG p.Ala254Thr Uncertain significance Single submitter
- ICOSLG p.Ala255Val Uncertain significance Single submitter
- ICOSLG p.Ala270Val Uncertain significance Single submitter
- ICOSLG p.Ala272Val Uncertain significance Single submitter
- ICOSLG p.Ala287Gly Uncertain significance Single submitter
- ICOSLG p.Ala287Thr Uncertain significance Single submitter
- ICOSLG p.Ala289Thr Uncertain significance Single submitter
- ICOSLG p.Ala38Thr Uncertain significance Single submitter
- ICOSLG p.Arg17Leu Uncertain significance Single submitter
- ICOSLG p.Arg194Trp Uncertain significance Single submitter
- ICOSLG p.Arg207Pro Uncertain significance Single submitter
- ICOSLG p.Arg239Gly Uncertain significance Single submitter
- ICOSLG p.Arg26Gly Uncertain significance Single submitter
- ICOSLG p.Arg81Gln Uncertain significance Single submitter
- ICOSLG p.Arg99Ser Uncertain significance Single submitter
- ICOSLG p.Asn168Lys Uncertain significance Single submitter
- ICOSLG p.Asp198Asn Uncertain significance Single submitter
- ICOSLG p.Asp32Asn Uncertain significance Single submitter
- ICOSLG p.Asp32His Uncertain significance Single submitter
- ICOSLG p.Asp77Glu Uncertain significance Single submitter
- ICOSLG p.Asp95Asn Uncertain significance Single submitter
- ICOSLG p.Cys216Tyr Uncertain significance Single submitter
- ICOSLG p.Cys37Arg Uncertain significance Single submitter
- ICOSLG p.Gln106Glu Uncertain significance Single submitter
- ICOSLG p.Gln118Pro Uncertain significance Single submitter
- ICOSLG p.Gln223Arg Uncertain significance Single submitter
- ICOSLG p.Gln223His Uncertain significance Single submitter
- ICOSLG p.Gln69Lys Uncertain significance Single submitter
- ICOSLG p.Glu129Ala Uncertain significance Single submitter
- ICOSLG p.Glu129Gln Uncertain significance Single submitter
- ICOSLG p.Glu129Val Uncertain significance Single submitter
- ICOSLG p.Glu295Gly Uncertain significance Single submitter
- ICOSLG p.Glu297Lys Uncertain significance Single submitter
- ICOSLG p.Glu34Val Uncertain significance Single submitter
- ICOSLG p.Glu74Lys Uncertain significance Single submitter
- ICOSLG p.Gly163Arg Uncertain significance Single submitter
- ICOSLG p.Gly237Arg Uncertain significance Single submitter
- ICOSLG p.Gly250Arg Uncertain significance Single submitter
- ICOSLG p.Gly30Ser Uncertain significance Single submitter
- ICOSLG p.His147Asn Uncertain significance Single submitter
- ICOSLG p.Ile172Leu Uncertain significance Single submitter
- ICOSLG p.Ile217Val Uncertain significance Single submitter
- ICOSLG p.Ile236Val Uncertain significance Single submitter
- ICOSLG p.Leu132Val Uncertain significance Single submitter
- ICOSLG p.Leu226Arg Uncertain significance Single submitter
- ICOSLG p.Leu98Arg Uncertain significance Single submitter
- ICOSLG p.Lys110Arg Uncertain significance Single submitter
- ICOSLG p.Lys241Gln Uncertain significance Single submitter
- ICOSLG p.Met28Ile Uncertain significance Single submitter
- ICOSLG p.Met28Lys Uncertain significance Single submitter
- ICOSLG p.Met28Thr Uncertain significance Single submitter
- ICOSLG p.Pro209Arg Uncertain significance Single submitter
- ICOSLG p.Ser127Asn Uncertain significance Single submitter
- ICOSLG p.Ser139Thr Uncertain significance Single submitter
- ICOSLG p.Ser148Asn Uncertain significance Single submitter
- ICOSLG p.Ser285Gly Uncertain significance Single submitter
- ICOSLG p.Ser293Asn Uncertain significance Single submitter
- ICOSLG p.Ser36Asn Uncertain significance Single submitter
- ICOSLG p.Ser57Asn Uncertain significance Single submitter
- ICOSLG p.Thr256Met Uncertain significance Single submitter
- ICOSLG p.Thr64Ala Uncertain significance Single submitter
- ICOSLG p.Tyr53Cys Uncertain significance Single submitter
- ICOSLG p.Tyr80Cys Uncertain significance Single submitter
- ICOSLG p.Val130Ile Uncertain significance Single submitter
- ICOSLG p.Val140Met Uncertain significance Single submitter
- ICOSLG p.Val143Phe Uncertain significance Single submitter
- ICOSLG p.Val202Met Uncertain significance Single submitter
- ICOSLG p.Val211Met Uncertain significance Single submitter
- ICOSLG p.Val220Glu Uncertain significance Single submitter
- ICOSLG p.Val220Met Uncertain significance Single submitter
- ICOSLG p.Val269Ala Uncertain significance Single submitter
- ICOSLG p.Val269Met Uncertain significance Single submitter
- ICOSLG p.Val302Ile Uncertain significance Single submitter
- ICOSLG p.Val62Met Uncertain significance Single submitter
- ICOSLG p.Val76Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- ICOSLG p.Arg99Cys Likely benign Multiple submitters
- ICOSLG p.Asp32Tyr Uncertain significance Multiple submitters
- ICOSLG p.Gln185Lys Uncertain significance Multiple submitters
- ICOSLG p.Thr157Met Uncertain significance Multiple submitters
- ICOSLG p.Val25Ala Uncertain significance Multiple submitters
- ICOSLG p.Ala261Asp Uncertain significance Single submitter
- ICOSLG p.Arg207Trp Uncertain significance Single submitter
- ICOSLG p.Arg278Gly Uncertain significance Single submitter
- ICOSLG p.Arg44Cys Uncertain significance Single submitter
- ICOSLG p.Arg79Cys Uncertain significance Single submitter
- ICOSLG p.Arg81Gly Uncertain significance Single submitter
- ICOSLG p.Arg93Trp Uncertain significance Single submitter
-
ICOSLG p.Asn219Lys
Uncertain significance
Single submitter
immunodeficiency 119
- ICOSLG p.Glu108Lys Uncertain significance Single submitter
- ICOSLG p.Ile217Thr Uncertain significance Single submitter
- ICOSLG p.Leu263Pro Uncertain significance Single submitter
- ICOSLG p.Met86Arg Uncertain significance Single submitter
- ICOSLG p.Pro146Arg Uncertain significance Single submitter
- ICOSLG p.Ser119Cys Uncertain significance Single submitter
- ICOSLG p.Ser31Arg Uncertain significance Single submitter
- ICOSLG p.Thr104Ile Uncertain significance Single submitter
- ICOSLG p.Thr159Ile Uncertain significance Single submitter
- ICOSLG p.Thr175Met Uncertain significance Single submitter
- ICOSLG p.Val125Ala Likely benign Single submitter
- ICOSLG p.Val134Leu Conflicting Single submitter
- ICOSLG p.Val199Met Uncertain significance Single submitter
All ICOSLG variants
Likely pathogenic 3
- c.406+1G>T Single submitter immunodeficiency 119
- c.55+1G>T Single submitter Inborn genetic diseases
- p.Pro167Ser Single submitter combined immunodeficiency
Conflicting classifications of pathogenicity 11
- c.862+4G>A Single submitter
- p.Ala206Thr Single submitter ⚠
- p.Ala254Val Single submitter ⚠
- p.Ala289Val Single submitter ⚠
- p.Arg17Gln Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly90Ser Single submitter ⚠
- p.Pro294Leu Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val134Leu Single submitter ⚠
Benign 4
- p.Arg79His Multiple submitters
- p.Gln118= Single submitter
- p.Thr249= Single submitter
- p.Val76= Single submitter
Benign/Likely benign 7
- c.56-19A>T Multiple submitters
- c.898+12del Multiple submitters
- c.899-20T>C Multiple submitters
- p.Ala27= Multiple submitters
- p.Arg99His Multiple submitters
- p.Thr256= Multiple submitters
- p.Val128Ile Multiple submitters
Likely benign 139
- c.407-11C>A Multiple submitters
- c.898+123T>A Multiple submitters
- c.899-14A>T Multiple submitters
- p.Ala254= Multiple submitters
- p.Ala89= Multiple submitters
- p.Arg99Cys Multiple submitters ⚠
- p.Asn168= Multiple submitters
- p.Asp198= Multiple submitters
- p.Ile236= Multiple submitters
- p.Ser139= Multiple submitters
- p.Ser210= Multiple submitters
- p.Ser97= Multiple submitters
- p.Val228= Multiple submitters
- p.Val52= Multiple submitters
- c.14+10G>A Single submitter
- c.14+16A>C Single submitter
- c.14+19G>A Single submitter
- c.14+7C>T Single submitter
- c.14+8G>A Single submitter
- c.15-11G>C Single submitter
- c.15-12T>C Single submitter
- c.15-17C>A Single submitter
- c.406+11C>T Single submitter
- c.406+12G>A Single submitter
- c.406+16C>T Single submitter
- c.406+17G>A Single submitter
- c.406+8C>T Single submitter
- c.407-13C>T Single submitter
- c.407-18T>C Single submitter
- c.407-19_407-18del Single submitter
- c.407-19C>T Single submitter
- c.55+17C>T Single submitter
- c.55+18T>A Single submitter
- c.55+8C>T Single submitter
- c.55+9A>C Single submitter
- c.56-10G>A Single submitter
- c.56-10G>C Single submitter
- c.56-14T>C Single submitter
- c.56-17C>A Single submitter
- c.56-18C>T Single submitter
- c.56-20C>T Single submitter
- c.697+10C>T Single submitter
- c.697+11G>A Single submitter
- c.697+13C>T Single submitter
- c.697+14_697+15del Single submitter
- c.697+14G>A Single submitter
- c.697+19C>T Single submitter
- c.697+20G>A Single submitter
- c.697+8C>T Single submitter
- c.698-13C>T Single submitter
- c.698-18T>C Single submitter
- c.698-7C>T Single submitter
- c.862+16T>C Single submitter
- c.862+17A>G Single submitter
- c.862+18T>C Single submitter
- c.862+8C>T Single submitter
- c.862+9G>A Single submitter
- c.863-19A>C Single submitter
- c.863-4C>T Single submitter
- c.863-8T>C Single submitter
- c.898+101C>T Single submitter
- c.898+11C>T Single submitter
- c.898+12G>A Single submitter
- c.898+139G>A Single submitter
- c.898+155C>T Single submitter
- c.898+222C>T Single submitter
- c.898+223G>A Single submitter
- c.898+314C>T Single submitter
- c.898+325del Single submitter
- c.898+341C>T Single submitter
- c.898+36G>A Single submitter
- c.898+384_898+385insGGGTCCAGGCACCGGCGCCCAGCCCCCATGGGGTGTCCAGGGC Single submitter
- c.898+384_898+426dup Single submitter
- c.898+385G>A Single submitter
- c.898+395C>T Single submitter
- c.898+398G>A Single submitter
- c.898+419C>T Single submitter
- c.898+423C>A Single submitter
- c.898+426_898+427insCAGGGCGGGTCCAGGCACCGGCGCCCAGCCCCCGTGGGGTGTCCAGGGCGGGTCCAGGCACCGGCGCCCAGCCCCCGTGGGGTGTCCGGAGTGGGTCCAGGCACCGGCGCCCAGCCCCCGTGGGGTGTG Single submitter
- c.898+449_898+450insGGGTCCAGGCACCGGCGCCCAGCCCCCGTGGGGTGTGCAGGGCGGGTCCAGGCACCGGCGCCCAGCCCCTGTGGGGTGTCCGGAGC Single submitter
- c.898+69A>G Single submitter
- c.899-14A>C Single submitter
- c.899-18C>T Single submitter
- c.*3G>A Single submitter
- p.Ala145= Single submitter
- p.Ala261= Single submitter
- p.Ala270= Single submitter
- p.Ala289= Single submitter
- p.Arg2= Single submitter
- p.Asn102= Single submitter
- p.Asn162= Single submitter
- p.Asn219= Single submitter
- p.Asn253= Single submitter
- p.Asn75= Single submitter
- p.Asn82= Single submitter
- p.Asp107= Single submitter
- p.Asp279= Single submitter
- p.Asp32= Single submitter
- p.Asp32Glu Single submitter
- p.Cys264= Single submitter
- p.Cys37= Single submitter
- p.Glu295= Single submitter
- p.Gly229= Single submitter
- p.Gly250= Single submitter
- p.Gly7= Single submitter
- p.Gly90= Single submitter
- p.Gly94= Single submitter
- p.His284= Single submitter
- p.His301= Single submitter
- p.Ile205= Single submitter
- p.Ile273= Single submitter
- p.Leu16= Single submitter
- p.Leu298= Single submitter
- p.Pro141= Single submitter
- p.Pro165= Single submitter
- p.Pro294= Single submitter
- p.Pro88= Single submitter
- p.Ser144= Single submitter
- p.Ser31= Single submitter
- p.Ser36= Single submitter
- p.Thr104= Single submitter
- p.Thr131= Single submitter
- p.Thr155= Single submitter
- p.Thr157= Single submitter
- p.Thr188= Single submitter
- p.Thr208= Single submitter
- p.Thr56= Single submitter
- p.Thr61= Single submitter
- p.Tyr53= Single submitter
- p.Val115= Single submitter
- p.Val125Ala Single submitter ⚠
- p.Val140= Single submitter
- p.Val142= Single submitter
- p.Val200= Single submitter
- p.Val211Leu Single submitter
- p.Val267= Single submitter
- p.Val268= Single submitter
- p.Val271= Single submitter
- p.Val33= Single submitter
Uncertain significance 148
- p.Ala270Ser Multiple submitters ⚠
- p.Ala27Val Multiple submitters ⚠
- p.Arg194Gln Multiple submitters ⚠
- p.Arg207Gln Multiple submitters ⚠
- p.Arg280Gln Multiple submitters ⚠
- p.Arg44His Multiple submitters ⚠
- p.Arg81Trp Multiple submitters ⚠
- p.Arg99Leu Multiple submitters ⚠
- p.Asp32Tyr Multiple submitters ⚠
- p.Gln185Lys Multiple submitters ⚠
- p.Gln224Arg Multiple submitters
- p.Glu108Gln Multiple submitters ⚠
- p.Glu22Gln Multiple submitters ⚠
- p.Glu238Gly Multiple submitters ⚠
- p.Glu251Lys Multiple submitters ⚠
- p.Gly250Ser Multiple submitters ⚠
- p.Leu16Phe Multiple submitters ⚠
- p.Thr157Met Multiple submitters ⚠
- p.Thr157Pro Multiple submitters immunodeficiency 119
- p.Trp275Cys Multiple submitters ⚠
- p.Val140Gly Multiple submitters ⚠
- p.Val140Leu Multiple submitters ⚠
- p.Val142Ile Multiple submitters ⚠
- p.Val143Ile Multiple submitters ⚠
- p.Val189Ile Multiple submitters ⚠
- p.Val25Ala Multiple submitters ⚠
- p.Val25Ile Multiple submitters ⚠
- p.Val33Met Multiple submitters
- c.14+6C>T Single submitter
- c.406+1G>A Single submitter
- c.406+6A>G Single submitter
- c.56-13T>G Single submitter
- c.863-2A>G Single submitter
- c.898+6T>A Single submitter
- c.-23_-8dup Single submitter
- p.Ala145Asp Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala261Asp Single submitter ⚠
- p.Ala270Val Single submitter ⚠
- p.Ala272Val Single submitter ⚠
- p.Ala287Gly Single submitter ⚠
- p.Ala287Thr Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Arg17Leu Single submitter ⚠
- p.Arg17Ter Single submitter
- p.Arg194Trp Single submitter ⚠
- p.Arg204Ser Single submitter
- p.Arg207Pro Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg239Gly Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Arg278Gly Single submitter ⚠
- p.Arg44_Phe45insLeuSerCysAlaCysProGluGlySerArg Single submitter
- p.Arg44Cys Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Arg81Gly Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Arg99Ser Single submitter ⚠
- p.Asn168Lys Single submitter ⚠
- p.Asn219Lys Single submitter immunodeficiency 119 ⚠
- p.Asp19= Single submitter
- p.Asp198Asn Single submitter ⚠
- p.Asp32Asn Single submitter ⚠
- p.Asp32His Single submitter ⚠
- p.Asp77Glu Single submitter ⚠
- p.Asp95Asn Single submitter ⚠
- p.Cys216Tyr Single submitter ⚠
- p.Cys281Ter Single submitter
- p.Cys37Arg Single submitter ⚠
- p.Gln106Glu Single submitter ⚠
- p.Gln118Pro Single submitter ⚠
- p.Gln185Ter Single submitter
- p.Gln223Arg Single submitter ⚠
- p.Gln223His Single submitter ⚠
- p.Gln69Lys Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu129Ala Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu129Val Single submitter ⚠
- p.Glu295Gly Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu34Val Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Gly163Arg Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly250Arg Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.His147Asn Single submitter ⚠
- p.Ile172Leu Single submitter ⚠
- p.Ile172Phe Single submitter
- p.Ile205Thr Single submitter
- p.Ile217Thr Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Leu132Val Single submitter ⚠
- p.Leu226Arg Single submitter ⚠
- p.Leu263Pro Single submitter ⚠
- p.Leu98Arg Single submitter ⚠
- p.Lys110Arg Single submitter ⚠
- p.Lys241Gln Single submitter ⚠
- p.Met28Ile Single submitter ⚠
- p.Met28Lys Single submitter ⚠
- p.Met28Thr Single submitter ⚠
- p.Met86Arg Single submitter ⚠
- p.Pro146Arg Single submitter ⚠
- p.Pro209Arg Single submitter ⚠
- p.Ser119Cys Single submitter ⚠
- p.Ser127Asn Single submitter ⚠
- p.Ser139Thr Single submitter ⚠
- p.Ser148Asn Single submitter ⚠
- p.Ser285Gly Single submitter ⚠
- p.Ser293Asn Single submitter ⚠
- p.Ser293fs Single submitter
- p.Ser31Arg Single submitter ⚠
- p.Ser36Asn Single submitter ⚠
- p.Ser57Asn Single submitter ⚠
- p.Ser87Ter Single submitter
- p.Ter303Ser Single submitter
- p.Thr104Ile Single submitter ⚠
- p.Thr159Ile Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr256Met Single submitter ⚠
- p.Thr64Ala Single submitter ⚠
- p.Trp171Ter Single submitter
- p.Trp290Ter Single submitter
- p.Tyr53Cys Single submitter ⚠
- p.Tyr80Cys Single submitter ⚠
- p.Val130Ile Single submitter ⚠
- p.Val140Met Single submitter ⚠
- p.Val143Phe Single submitter ⚠
- p.Val169Met Single submitter
- p.Val199Met Single submitter ⚠
- p.Val202Met Single submitter ⚠
- p.Val211Met Single submitter ⚠
- p.Val220Glu Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val228dup Single submitter
- p.Val269Ala Single submitter ⚠
- p.Val269Met Single submitter ⚠
- p.Val276fs Single submitter
- p.Val29= Single submitter
- p.Val302Ile Single submitter ⚠
- p.Val62Met Single submitter ⚠
- p.Val76Met Single submitter ⚠