IRF7 — 750 ClinVar variants
All ClinVar germline IRF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →
1 Likely pathogenic · 11 Conflicting · 20 Benign · 9 Benign/Likely benign · 261 Likely benign · 448 Uncertain significance
Full IRF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 334
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.
-
IRF7 p.Ala485Thr
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Arg131Gln
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Arg351Gln
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Gly229Glu
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Gly247Arg
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Phe410Val
Conflicting
Single submitter
IRF7-related disorder
-
IRF7 p.Pro154Leu
Conflicting
Single submitter
immunodeficiency 39
- IRF7 p.Pro80Leu Conflicting Single submitter
-
IRF7 p.Thr243Ala
Conflicting
Single submitter
immunodeficiency 39
Predictors lean, ClinVar uncertain 276
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 276
-
IRF7 p.Ala145Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala251Pro
Uncertain significance
Multiple submitters
IRF7-related disorder
-
IRF7 p.Ala258Val
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala259Gly
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala267Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala280Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala368Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala419Val
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala503Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala55Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala83Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala86Val
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg100Pro
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg103Cys
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg126Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg322Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg369Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg418Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg420Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg423Pro
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Asp290Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Asp290Gly
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Asp290His
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Cys224Trp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Cys394Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gln215Arg
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gln365His
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gln466Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Glu213Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Glu262Asp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Glu283Lys
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Glu493Asp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly165Ala
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly306Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly464Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.His163Leu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.His307Tyr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Leu271Pro
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Leu414Pro
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro149Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro228Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro273Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro308Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro355Ala
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro403Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser245Arg
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser276Arg
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser276Asn
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser285Thr
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser333Asn
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Thr162Lys
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Thr402Ile
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Thr465Met
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Thr465Ser
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Val106Met
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Val240Ala
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Val291Met
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Val304Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala143Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala143Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala145Val
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Ala146Pro Uncertain significance Single submitter
-
IRF7 p.Ala186Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala186Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala193Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala199Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala199Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala210Asp
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Ala210Thr Uncertain significance Single submitter
-
IRF7 p.Ala210Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala252Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala252Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala259Pro
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala259Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala267Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala277Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala280Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala288Pro
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala288Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala387Thr
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Ala393Thr Uncertain significance Single submitter
-
IRF7 p.Ala419Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala503Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala57Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala8Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala98Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ala9Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg100His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg104Cys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg109Trp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg126Trp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg131Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg344Cys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg344His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg362Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg37Cys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg408Ser
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg418Trp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg422Ser
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg423His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg427Cys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg427His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg459Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg467His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg467Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg49Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg58His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg58Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg75Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg75Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp110Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp114Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp117Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp137Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp178Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp204Tyr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp290Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp325Glu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp406Ala
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp490Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp491Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Cys191Arg
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Cys26Ser Uncertain significance Single submitter
-
IRF7 p.Cys278Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Cys400Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gln266Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gln282Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gln328Glu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gln466Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu140Gln
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Glu140Lys Uncertain significance Single submitter
-
IRF7 p.Glu142Asp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu16Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu213Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu234Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu241Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu257Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu262Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu336Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu463Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu463Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu493Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu498Asp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu500Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu54Asp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu82Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu84Ala
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gly133Asp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gly135Asp
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Gly152Ser
Uncertain significance
Single submitter
immunodeficiency 39
Predictors split 49
The independent predictors disagree with each other — read with care.
-
IRF7 p.Arg322Trp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg351Trp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg369Trp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Arg422Cys
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Cys26Trp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Glu360Val
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly315Asp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly363Glu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Gly469Asp
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.His352Gln
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Pro334Leu
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ser484Arg
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Thr292Ile
Uncertain significance
Multiple submitters
immunodeficiency 39
-
IRF7 p.Ala62Ser
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Arg100Cys Uncertain significance Single submitter
-
IRF7 p.Arg369Gly
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Arg420Trp
Conflicting
Single submitter
immunodeficiency 39
-
IRF7 p.Arg422His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asn111Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asn399Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp339His
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Asp406Asn
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Cys26Tyr Uncertain significance Single submitter
-
IRF7 p.Glu454Lys
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Glu54Lys
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Gly15Arg Uncertain significance Single submitter
-
IRF7 p.Gly25Ser
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Gly297Ser Uncertain significance Single submitter
-
IRF7 p.Gly315Ser
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.His119Tyr Uncertain significance Single submitter
- IRF7 p.His352Leu Uncertain significance Single submitter
-
IRF7 p.Leu357Val
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Leu395Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Leu438Pro
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Leu488Pro
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Lys341Gln
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Lys373Asn
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Lys373Thr
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Met107Ile
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Phe95Leu Uncertain significance Single submitter
-
IRF7 p.Pro317Ser
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Pro326Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Pro455Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ser112Leu
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Ser487Arg
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Thr429Ala
Uncertain significance
Single submitter
immunodeficiency 39
- IRF7 p.Thr429Ile Uncertain significance Single submitter
-
IRF7 p.Tyr27Phe
Uncertain significance
Single submitter
immunodeficiency 39
-
IRF7 p.Val300Leu
Uncertain significance
Single submitter
immunodeficiency 39
All IRF7 variants
Likely pathogenic 1
- p.Ile59fs Single submitter immunodeficiency 39
Conflicting classifications of pathogenicity 11
- c.21-23T>C Single submitter immunodeficiency 39
- p.Ala485Thr Single submitter immunodeficiency 39 ⚠
- p.Arg131Gln Single submitter immunodeficiency 39 ⚠
- p.Arg351Gln Single submitter immunodeficiency 39 ⚠
- p.Arg420Trp Single submitter immunodeficiency 39 ⚠
- p.Gly229Glu Single submitter immunodeficiency 39 ⚠
- p.Gly247Arg Single submitter immunodeficiency 39 ⚠
- p.Phe410Val Single submitter IRF7-related disorder ⚠
- p.Pro154Leu Single submitter immunodeficiency 39 ⚠
- p.Pro80Leu Single submitter ⚠
- p.Thr243Ala Single submitter immunodeficiency 39 ⚠
Benign 20
- c.1237+14T>C Multiple submitters immunodeficiency 39
- c.1237+41C>G Multiple submitters immunodeficiency 39
- c.1356+32T>C Multiple submitters immunodeficiency 39
- c.1357-43A>C Multiple submitters immunodeficiency 39
- c.184-3C>A Multiple submitters immunodeficiency 39
- c.184-4_184-3delinsAA Multiple submitters immunodeficiency 39
- c.184-4T>A Multiple submitters immunodeficiency 39
- p.Arg109= Multiple submitters immunodeficiency 39
- p.Gln412Arg Multiple submitters immunodeficiency 39
- p.Gly382= Multiple submitters immunodeficiency 39
- p.Ile59= Multiple submitters immunodeficiency 39
- p.Lys179Glu Multiple submitters immunodeficiency 39
- p.Thr162= Multiple submitters immunodeficiency 39
- c.1357-23dup Single submitter
- c.183+11del Single submitter immunodeficiency 39
- c.680-16G>C Single submitter immunodeficiency 39
- c.847+28T>C Single submitter
- c.847+43C>T Single submitter
- p.Cys97= Single submitter immunodeficiency 39
- p.Glu28= Single submitter immunodeficiency 39
Benign/Likely benign 9
- c.1357-18C>T Multiple submitters immunodeficiency 39
- c.453+5C>T Multiple submitters immunodeficiency 39
- c.680-18C>T Multiple submitters immunodeficiency 39
- c.767-14C>T Multiple submitters immunodeficiency 39
- c.767-19G>A Multiple submitters immunodeficiency 39
- c.848-12G>C Multiple submitters immunodeficiency 39
- c.848-45_848-16del Multiple submitters immunodeficiency 39
- p.Ala168= Multiple submitters immunodeficiency 39
- p.Arg37His Multiple submitters immunodeficiency 39
Likely benign 261
- c.1238-19G>A Multiple submitters immunodeficiency 39
- c.1357-75_1357-14del Multiple submitters immunodeficiency 39
- c.395-16C>A Multiple submitters immunodeficiency 39
- c.454-14A>T Multiple submitters immunodeficiency 39
- c.847+16G>C Multiple submitters immunodeficiency 39
- c.848-10C>T Multiple submitters immunodeficiency 39
- c.848-77_848-18del Multiple submitters immunodeficiency 39
- p.Ala123= Multiple submitters immunodeficiency 39
- p.Arg344= Multiple submitters immunodeficiency 39
- p.Asp204Asn Multiple submitters immunodeficiency 39
- p.Asp490= Multiple submitters immunodeficiency 39
- p.Gln328= Multiple submitters immunodeficiency 39
- p.Glu268= Multiple submitters immunodeficiency 39
- p.Gly29= Multiple submitters immunodeficiency 39
- p.Gly77= Multiple submitters immunodeficiency 39
- p.Leu220= Multiple submitters immunodeficiency 39
- p.Pro155= Multiple submitters immunodeficiency 39
- p.Pro502= Multiple submitters immunodeficiency 39
- p.Ser276= Multiple submitters immunodeficiency 39
- p.Thr254Ala Multiple submitters immunodeficiency 39
- p.Thr346= Multiple submitters immunodeficiency 39
- c.1237+10G>T Single submitter immunodeficiency 39
- c.1237+11C>T Single submitter immunodeficiency 39
- c.1237+20G>A Single submitter immunodeficiency 39
- c.1238-11C>A Single submitter immunodeficiency 39
- c.1238-14G>A Single submitter immunodeficiency 39
- c.1238-5T>C Single submitter immunodeficiency 39
- c.1238-6C>G Single submitter immunodeficiency 39
- c.1238-7T>A Single submitter immunodeficiency 39
- c.1356+12G>A Single submitter immunodeficiency 39
- c.1356+16C>T Single submitter immunodeficiency 39
- c.1356+19G>T Single submitter immunodeficiency 39
- c.1357-10C>T Single submitter immunodeficiency 39
- c.1357-15G>A Single submitter immunodeficiency 39
- c.1357-16C>T Single submitter immunodeficiency 39
- c.1357-20C>A Single submitter immunodeficiency 39
- c.1357-7C>T Single submitter immunodeficiency 39
- c.183+10C>A Single submitter immunodeficiency 39
- c.183+10C>G Single submitter immunodeficiency 39
- c.183+12A>C Single submitter immunodeficiency 39
- c.183+13del Single submitter immunodeficiency 39
- c.183+14C>T Single submitter immunodeficiency 39
- c.183+15C>G Single submitter immunodeficiency 39
- c.183+16C>T Single submitter immunodeficiency 39
- c.183+19_183+28del Single submitter immunodeficiency 39
- c.183+19C>T Single submitter immunodeficiency 39
- c.183+9C>A Single submitter immunodeficiency 39
- c.184-10C>T Single submitter immunodeficiency 39
- c.184-12C>T Single submitter immunodeficiency 39
- c.184-16C>T Single submitter immunodeficiency 39
- c.184-19G>A Single submitter immunodeficiency 39
- c.184-4T>G Single submitter immunodeficiency 39
- c.184-6C>G Single submitter immunodeficiency 39
- c.184-6C>T Single submitter immunodeficiency 39
- c.184-8C>A Single submitter immunodeficiency 39
- c.20+15C>A Single submitter
- c.21-2A>C Single submitter immunodeficiency 39
- c.21-30C>A Single submitter immunodeficiency 39
- c.21-9C>T Single submitter immunodeficiency 39
- c.394+10dup Single submitter immunodeficiency 39
- c.394+10G>A Single submitter immunodeficiency 39
- c.394+11C>T Single submitter immunodeficiency 39
- c.394+17G>A Single submitter immunodeficiency 39
- c.394+18C>T Single submitter immunodeficiency 39
- c.394+19C>T Single submitter immunodeficiency 39
- c.395-19C>T Single submitter immunodeficiency 39
- c.395-7C>G Single submitter immunodeficiency 39
- c.453+11_453+14del Single submitter immunodeficiency 39
- c.453+11C>G Single submitter immunodeficiency 39
- c.453+14T>C Single submitter immunodeficiency 39
- c.453+6C>G Single submitter
- c.453+7T>C Single submitter immunodeficiency 39
- c.453+8del Single submitter immunodeficiency 39
- c.453+9CT[2] Single submitter immunodeficiency 39
- c.454-12T>C Single submitter immunodeficiency 39
- c.454-13C>G Single submitter immunodeficiency 39
- c.454-13C>T Single submitter immunodeficiency 39
- c.454-17C>G Single submitter immunodeficiency 39
- c.679+11G>A Single submitter immunodeficiency 39
- c.679+12C>G Single submitter immunodeficiency 39
- c.679+14C>T Single submitter immunodeficiency 39
- c.679+15G>A Single submitter immunodeficiency 39
- c.679+15G>C Single submitter immunodeficiency 39
- c.679+16G>C Single submitter immunodeficiency 39
- c.679+17G>A Single submitter immunodeficiency 39
- c.679+18G>A Single submitter immunodeficiency 39
- c.679+19A>G Single submitter immunodeficiency 39
- c.679+19del Single submitter immunodeficiency 39
- c.679+20G>A Single submitter immunodeficiency 39
- c.679+20G>C Single submitter immunodeficiency 39
- c.679+20G>T Single submitter immunodeficiency 39
- c.679+7G>A Single submitter immunodeficiency 39
- c.679+8C>A Single submitter immunodeficiency 39
- c.679+8C>T Single submitter immunodeficiency 39
- c.680-14C>G Single submitter immunodeficiency 39
- c.680-16G>T Single submitter immunodeficiency 39
- c.680-6C>A Single submitter immunodeficiency 39
- c.766+10G>A Single submitter immunodeficiency 39
- c.766+12_766+17del Single submitter immunodeficiency 39
- c.766+15G>A Single submitter immunodeficiency 39
- c.766+16G>A Single submitter immunodeficiency 39
- c.766+20_766+21del Single submitter immunodeficiency 39
- c.766+8G>A Single submitter immunodeficiency 39
- c.766+9G>A Single submitter immunodeficiency 39
- c.766+9G>T Single submitter immunodeficiency 39
- c.767-10C>A Single submitter immunodeficiency 39
- c.767-11T>C Single submitter immunodeficiency 39
- c.767-17T>C Single submitter immunodeficiency 39
- c.767-20G>A Single submitter immunodeficiency 39
- c.767-9C>T Single submitter immunodeficiency 39
- c.847+10T>C Single submitter immunodeficiency 39
- c.847+10T>G Single submitter immunodeficiency 39
- c.847+12C>T Single submitter immunodeficiency 39
- c.847+15G>A Single submitter immunodeficiency 39
- c.847+16G>A Single submitter immunodeficiency 39
- c.847+17A>G Single submitter immunodeficiency 39
- c.847+19G>A Single submitter immunodeficiency 39
- c.847+7G>T Single submitter immunodeficiency 39
- c.848-20A>T Single submitter immunodeficiency 39
- c.848-8C>T Single submitter immunodeficiency 39
- c.-16C>T Single submitter
- p.Ala160= Single submitter immunodeficiency 39
- p.Ala199= Single submitter immunodeficiency 39
- p.Ala225= Single submitter immunodeficiency 39
- p.Ala258= Single submitter immunodeficiency 39
- p.Ala259= Single submitter immunodeficiency 39
- p.Ala335= Single submitter immunodeficiency 39
- p.Ala440= Single submitter immunodeficiency 39
- p.Ala48= Single submitter immunodeficiency 39
- p.Ala55= Single submitter immunodeficiency 39
- p.Ala86= Single submitter immunodeficiency 39
- p.Ala89= Single submitter immunodeficiency 39
- p.Ala9= Single submitter immunodeficiency 39
- p.Ala98= Single submitter immunodeficiency 39
- p.Arg100= Single submitter immunodeficiency 39
- p.Arg126= Single submitter immunodeficiency 39
- p.Arg322= Single submitter immunodeficiency 39
- p.Arg369= Single submitter immunodeficiency 39
- p.Arg37= Single submitter immunodeficiency 39
- p.Arg398= Single submitter immunodeficiency 39
- p.Arg49= Single submitter immunodeficiency 39
- p.Arg58= Single submitter immunodeficiency 39
- p.Arg88= Single submitter immunodeficiency 39
- p.Asn94= Single submitter immunodeficiency 39
- p.Asp117= Single submitter immunodeficiency 39
- p.Asp204= Single submitter
- p.Asp290= Single submitter immunodeficiency 39
- p.Asp339= Single submitter immunodeficiency 39
- p.Asp474= Single submitter immunodeficiency 39
- p.Asp491= Single submitter immunodeficiency 39
- p.Asp56= Single submitter immunodeficiency 39
- p.Cys224= Single submitter immunodeficiency 39
- p.Cys374= Single submitter immunodeficiency 39
- p.Cys394= Single submitter immunodeficiency 39
- p.Gln138= Single submitter immunodeficiency 39
- p.Gln189= Single submitter immunodeficiency 39
- p.Gln215= Single submitter immunodeficiency 39
- p.Gln249= Single submitter immunodeficiency 39
- p.Gln266= Single submitter immunodeficiency 39
- p.Gln302= Single submitter immunodeficiency 39
- p.Gln436= Single submitter immunodeficiency 39
- p.Glu127= Single submitter immunodeficiency 39
- p.Glu142= Single submitter immunodeficiency 39
- p.Glu213= Single submitter immunodeficiency 39
- p.Glu360= Single submitter immunodeficiency 39
- p.Glu468= Single submitter immunodeficiency 39
- p.Gly135= Single submitter immunodeficiency 39
- p.Gly15= Single submitter immunodeficiency 39
- p.Gly153= Single submitter immunodeficiency 39
- p.Gly180= Single submitter immunodeficiency 39
- p.Gly202= Single submitter immunodeficiency 39
- p.Gly227= Single submitter immunodeficiency 39
- p.Gly233= Single submitter immunodeficiency 39
- p.Gly287= Single submitter immunodeficiency 39
- p.Gly356= Single submitter immunodeficiency 39
- p.Gly363= Single submitter immunodeficiency 39
- p.Gly68= Single submitter immunodeficiency 39
- p.His163= Single submitter immunodeficiency 39
- p.His352= Single submitter immunodeficiency 39
- p.His461= Single submitter immunodeficiency 39
- p.Ile404= Single submitter immunodeficiency 39
- p.Ile492= Single submitter immunodeficiency 39
- p.Leu108= Single submitter immunodeficiency 39
- p.Leu166= Single submitter immunodeficiency 39
- p.Leu18= Single submitter immunodeficiency 39
- p.Leu192= Single submitter immunodeficiency 39
- p.Leu196= Single submitter immunodeficiency 39
- p.Leu197= Single submitter immunodeficiency 39
- p.Leu235= Single submitter immunodeficiency 39
- p.Leu30= Single submitter immunodeficiency 39
- p.Leu301= Single submitter immunodeficiency 39
- p.Leu313= Single submitter immunodeficiency 39
- p.Leu33= Single submitter immunodeficiency 39
- p.Leu337= Single submitter immunodeficiency 39
- p.Leu349= Single submitter immunodeficiency 39
- p.Leu350= Single submitter immunodeficiency 39
- p.Leu357= Single submitter immunodeficiency 39
- p.Leu396= Single submitter immunodeficiency 39
- p.Leu438= Single submitter immunodeficiency 39
- p.Leu450= Single submitter immunodeficiency 39
- p.Leu478= Single submitter immunodeficiency 39
- p.Leu482= Single submitter immunodeficiency 39
- p.Leu499= Single submitter immunodeficiency 39
- p.Leu99= Single submitter immunodeficiency 39
- p.Lys120= Single submitter immunodeficiency 39
- p.Lys179= Single submitter immunodeficiency 39
- p.Lys375= Single submitter immunodeficiency 39
- p.Lys446= Single submitter immunodeficiency 39
- p.Lys50= Single submitter immunodeficiency 39
- p.Phe312= Single submitter immunodeficiency 39
- p.Phe405= Single submitter immunodeficiency 39
- p.Phe411= Single submitter immunodeficiency 39
- p.Phe434= Single submitter immunodeficiency 39
- p.Phe47= Single submitter immunodeficiency 39
- p.Phe60= Single submitter immunodeficiency 39
- p.Pro134= Single submitter immunodeficiency 39
- p.Pro144= Single submitter
- p.Pro244= Single submitter immunodeficiency 39
- p.Pro250= Single submitter immunodeficiency 39
- p.Pro261= Single submitter immunodeficiency 39
- p.Pro264= Single submitter immunodeficiency 39
- p.Pro269= Single submitter immunodeficiency 39
- p.Pro273= Single submitter immunodeficiency 39
- p.Pro308= Single submitter immunodeficiency 39
- p.Pro319= Single submitter immunodeficiency 39
- p.Pro338= Single submitter immunodeficiency 39
- p.Pro383= Single submitter immunodeficiency 39
- p.Pro389= Single submitter immunodeficiency 39
- p.Pro71= Single submitter immunodeficiency 39
- p.Pro79= Single submitter immunodeficiency 39
- p.Pro81= Single submitter immunodeficiency 39
- p.Ser112= Single submitter immunodeficiency 39
- p.Ser200= Single submitter immunodeficiency 39
- p.Ser285= Single submitter immunodeficiency 39
- p.Ser333= Single submitter immunodeficiency 39
- p.Ser386= Single submitter immunodeficiency 39
- p.Ser484= Single submitter immunodeficiency 39
- p.Ser53= Single submitter immunodeficiency 39
- p.Thr102= Single submitter
- p.Thr136= Single submitter immunodeficiency 39
- p.Thr221= Single submitter immunodeficiency 39
- p.Thr279= Single submitter immunodeficiency 39
- p.Thr292= Single submitter immunodeficiency 39
- p.Thr299= Single submitter immunodeficiency 39
- p.Thr38= Single submitter immunodeficiency 39
- p.Thr391= Single submitter immunodeficiency 39
- p.Thr402= Single submitter immunodeficiency 39
- p.Thr465= Single submitter immunodeficiency 39
- p.Tyr122= Single submitter immunodeficiency 39
- p.Tyr236= Single submitter immunodeficiency 39
- p.Tyr27= Single submitter immunodeficiency 39
- p.Tyr345= Single submitter
- p.Tyr428= Single submitter immunodeficiency 39
- p.Val106= Single submitter immunodeficiency 39
- p.Val281= Single submitter immunodeficiency 39
- p.Val321= Single submitter immunodeficiency 39
- p.Val415= Single submitter immunodeficiency 39
- p.Val42= Single submitter immunodeficiency 39
- p.Val460= Single submitter immunodeficiency 39
- p.Val470= Single submitter immunodeficiency 39
- c.20+7G>A No assertion criteria IRF7-related disorder
Uncertain significance 448
Showing the top 300 by review status; the full set is in the sitemap.
- c.20+39G>C Multiple submitters immunodeficiency 39
- c.21-16G>A Multiple submitters immunodeficiency 39
- c.21-19C>T Multiple submitters immunodeficiency 39
- c.847+2T>C Multiple submitters
- c.848-1G>C Multiple submitters immunodeficiency 39
- p.Ala145Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ala203fs Multiple submitters immunodeficiency 39
- p.Ala251Pro Multiple submitters IRF7-related disorder ⚠
- p.Ala258Val Multiple submitters immunodeficiency 39 ⚠
- p.Ala259Gly Multiple submitters immunodeficiency 39 ⚠
- p.Ala267Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ala280Glu Multiple submitters immunodeficiency 39 ⚠
- p.Ala368Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ala419Val Multiple submitters immunodeficiency 39 ⚠
- p.Ala503Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ala55Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ala83Ser Multiple submitters immunodeficiency 39 ⚠
- p.Ala86Val Multiple submitters immunodeficiency 39 ⚠
- p.Arg100Pro Multiple submitters immunodeficiency 39 ⚠
- p.Arg103Cys Multiple submitters immunodeficiency 39 ⚠
- p.Arg126Gln Multiple submitters immunodeficiency 39 ⚠
- p.Arg322Gln Multiple submitters immunodeficiency 39 ⚠
- p.Arg322Trp Multiple submitters immunodeficiency 39 ⚠
- p.Arg351Trp Multiple submitters immunodeficiency 39 ⚠
- p.Arg369Gln Multiple submitters immunodeficiency 39 ⚠
- p.Arg369Trp Multiple submitters immunodeficiency 39 ⚠
- p.Arg418Gln Multiple submitters immunodeficiency 39 ⚠
- p.Arg420Gln Multiple submitters immunodeficiency 39 ⚠
- p.Arg422Cys Multiple submitters immunodeficiency 39 ⚠
- p.Arg423Pro Multiple submitters immunodeficiency 39 ⚠
- p.Arg88His Multiple submitters immunodeficiency 39
- p.Asn94fs Multiple submitters immunodeficiency 39
- p.Asp290Glu Multiple submitters immunodeficiency 39 ⚠
- p.Asp290Gly Multiple submitters immunodeficiency 39 ⚠
- p.Asp290His Multiple submitters immunodeficiency 39 ⚠
- p.Cys224Trp Multiple submitters immunodeficiency 39 ⚠
- p.Cys26Trp Multiple submitters immunodeficiency 39 ⚠
- p.Cys394Ser Multiple submitters immunodeficiency 39 ⚠
- p.Gln185Ter Multiple submitters immunodeficiency 39
- p.Gln215Arg Multiple submitters immunodeficiency 39 ⚠
- p.Gln365His Multiple submitters immunodeficiency 39 ⚠
- p.Gln466Glu Multiple submitters immunodeficiency 39 ⚠
- p.Glu213Gln Multiple submitters immunodeficiency 39 ⚠
- p.Glu262Asp Multiple submitters immunodeficiency 39 ⚠
- p.Glu283Lys Multiple submitters immunodeficiency 39 ⚠
- p.Glu360Val Multiple submitters immunodeficiency 39 ⚠
- p.Glu493Asp Multiple submitters immunodeficiency 39 ⚠
- p.Gly165Ala Multiple submitters immunodeficiency 39 ⚠
- p.Gly247fs Multiple submitters immunodeficiency 39
- p.Gly306Glu Multiple submitters immunodeficiency 39 ⚠
- p.Gly315Asp Multiple submitters immunodeficiency 39 ⚠
- p.Gly363Glu Multiple submitters immunodeficiency 39 ⚠
- p.Gly464Ser Multiple submitters immunodeficiency 39 ⚠
- p.Gly469Asp Multiple submitters immunodeficiency 39 ⚠
- p.His163Leu Multiple submitters immunodeficiency 39 ⚠
- p.His307Tyr Multiple submitters immunodeficiency 39 ⚠
- p.His352Gln Multiple submitters immunodeficiency 39 ⚠
- p.Leu183Pro Multiple submitters immunodeficiency 39
- p.Leu271Pro Multiple submitters immunodeficiency 39 ⚠
- p.Leu414Pro Multiple submitters immunodeficiency 39 ⚠
- p.Pro149Ser Multiple submitters immunodeficiency 39 ⚠
- p.Pro228Ser Multiple submitters immunodeficiency 39 ⚠
- p.Pro273Ser Multiple submitters immunodeficiency 39 ⚠
- p.Pro308Ser Multiple submitters immunodeficiency 39 ⚠
- p.Pro334Leu Multiple submitters immunodeficiency 39 ⚠
- p.Pro355Ala Multiple submitters immunodeficiency 39 ⚠
- p.Pro403Ser Multiple submitters immunodeficiency 39 ⚠
- p.Ser245Arg Multiple submitters immunodeficiency 39 ⚠
- p.Ser276Arg Multiple submitters immunodeficiency 39 ⚠
- p.Ser276Asn Multiple submitters immunodeficiency 39 ⚠
- p.Ser285Thr Multiple submitters immunodeficiency 39 ⚠
- p.Ser333Asn Multiple submitters immunodeficiency 39 ⚠
- p.Ser484Arg Multiple submitters immunodeficiency 39 ⚠
- p.Ser53Arg Multiple submitters immunodeficiency 39
- p.Thr162Lys Multiple submitters immunodeficiency 39 ⚠
- p.Thr292Ile Multiple submitters immunodeficiency 39 ⚠
- p.Thr402Ile Multiple submitters immunodeficiency 39 ⚠
- p.Thr465Met Multiple submitters immunodeficiency 39 ⚠
- p.Thr465Ser Multiple submitters immunodeficiency 39 ⚠
- p.Val106Met Multiple submitters immunodeficiency 39 ⚠
- p.Val240Ala Multiple submitters immunodeficiency 39 ⚠
- p.Val291Met Multiple submitters immunodeficiency 39 ⚠
- p.Val304Glu Multiple submitters immunodeficiency 39 ⚠
- c.1237+1G>A Single submitter
- c.1238-20A>C Single submitter immunodeficiency 39
- c.1238-5_1238-3del Single submitter immunodeficiency 39
- c.1357-1G>C Single submitter immunodeficiency 39
- c.1357-32_1357-15dup Single submitter immunodeficiency 39
- c.1357-5G>A Single submitter immunodeficiency 39
- c.183+2T>G Single submitter immunodeficiency 39
- c.183+4G>C Single submitter immunodeficiency 39
- c.183+5_183+6delinsTA Single submitter immunodeficiency 39
- c.183+6G>A Single submitter immunodeficiency 39
- c.184-4_184-3delinsCT Single submitter immunodeficiency 39
- c.20+30C>G Single submitter immunodeficiency 39
- c.20+33G>A Single submitter immunodeficiency 39
- c.20+42C>T Single submitter immunodeficiency 39
- c.21-1G>C Single submitter immunodeficiency 39
- c.21-21_21-20del Single submitter immunodeficiency 39
- c.21-25A>G Single submitter immunodeficiency 39
- c.21-26G>A Single submitter immunodeficiency 39
- c.21-26G>C Single submitter immunodeficiency 39
- c.21-32G>A Single submitter immunodeficiency 39
- c.21-33del Single submitter immunodeficiency 39
- c.21-4G>A Single submitter immunodeficiency 39
- c.21-5C>T Single submitter
- c.21-6C>G Single submitter immunodeficiency 39
- c.394+26_469del Single submitter immunodeficiency 39
- c.394+4A>G Single submitter immunodeficiency 39
- c.394+5G>C Single submitter immunodeficiency 39
- c.394+6C>A Single submitter immunodeficiency 39
- c.395-10_395-8del Single submitter immunodeficiency 39
- c.395-10TC[3] Single submitter immunodeficiency 39
- c.453_453+1dup Single submitter immunodeficiency 39
- c.453+1G>A Single submitter immunodeficiency 39
- c.679+1G>C Single submitter immunodeficiency 39
- c.679+5G>T Single submitter immunodeficiency 39
- c.766+1G>C Single submitter immunodeficiency 39
- c.766+5G>A Single submitter immunodeficiency 39
- c.766+6_766+7del Single submitter immunodeficiency 39
- c.767-8G>A Single submitter immunodeficiency 39
- c.847+1G>A Single submitter immunodeficiency 39
- c.847+1G>C Single submitter immunodeficiency 39
- c.847+2_847+4delinsAAG Single submitter immunodeficiency 39
- c.847+3G>A Single submitter immunodeficiency 39
- c.847+4del Single submitter immunodeficiency 39
- c.847+6T>C Single submitter immunodeficiency 39
- c.848-13G>A Single submitter immunodeficiency 39
- c.848-2A>C Single submitter immunodeficiency 39
- c.848-3C>T Single submitter immunodeficiency 39
- c.848-75CTGTCCCCGCCCACCCCCGTCACTCACAGC[3] Single submitter immunodeficiency 39
- c.848-7CA[2] Single submitter immunodeficiency 39
- p.Ala143Gly Single submitter immunodeficiency 39 ⚠
- p.Ala143Val Single submitter immunodeficiency 39 ⚠
- p.Ala145Val Single submitter immunodeficiency 39 ⚠
- p.Ala146Pro Single submitter ⚠
- p.Ala164fs Single submitter immunodeficiency 39
- p.Ala186Thr Single submitter immunodeficiency 39 ⚠
- p.Ala186Val Single submitter immunodeficiency 39 ⚠
- p.Ala193Val Single submitter immunodeficiency 39 ⚠
- p.Ala199Thr Single submitter immunodeficiency 39 ⚠
- p.Ala199Val Single submitter immunodeficiency 39 ⚠
- p.Ala210Asp Single submitter immunodeficiency 39 ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala210Val Single submitter immunodeficiency 39 ⚠
- p.Ala223fs Single submitter immunodeficiency 39
- p.Ala251fs Single submitter immunodeficiency 39
- p.Ala252Gly Single submitter immunodeficiency 39 ⚠
- p.Ala252Thr Single submitter immunodeficiency 39 ⚠
- p.Ala259Pro Single submitter immunodeficiency 39 ⚠
- p.Ala259Val Single submitter immunodeficiency 39 ⚠
- p.Ala267Gly Single submitter immunodeficiency 39 ⚠
- p.Ala277Thr Single submitter immunodeficiency 39 ⚠
- p.Ala280fs Single submitter immunodeficiency 39
- p.Ala280Val Single submitter immunodeficiency 39 ⚠
- p.Ala288Pro Single submitter immunodeficiency 39 ⚠
- p.Ala288Val Single submitter immunodeficiency 39 ⚠
- p.Ala387Thr Single submitter immunodeficiency 39 ⚠
- p.Ala393Thr Single submitter ⚠
- p.Ala419Thr Single submitter immunodeficiency 39 ⚠
- p.Ala503fs Single submitter immunodeficiency 39
- p.Ala503Val Single submitter immunodeficiency 39 ⚠
- p.Ala57Gly Single submitter immunodeficiency 39 ⚠
- p.Ala62Ser Single submitter immunodeficiency 39 ⚠
- p.Ala83_Glu84dup Single submitter immunodeficiency 39
- p.Ala86fs Single submitter immunodeficiency 39
- p.Ala8Thr Single submitter immunodeficiency 39 ⚠
- p.Ala98Val Single submitter immunodeficiency 39 ⚠
- p.Ala9Thr Single submitter immunodeficiency 39 ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg100His Single submitter immunodeficiency 39 ⚠
- p.Arg104Cys Single submitter immunodeficiency 39 ⚠
- p.Arg109Trp Single submitter immunodeficiency 39 ⚠
- p.Arg126Trp Single submitter immunodeficiency 39 ⚠
- p.Arg131Gly Single submitter immunodeficiency 39 ⚠
- p.Arg344Cys Single submitter immunodeficiency 39 ⚠
- p.Arg344fs Single submitter immunodeficiency 39
- p.Arg344His Single submitter immunodeficiency 39 ⚠
- p.Arg362Gln Single submitter immunodeficiency 39 ⚠
- p.Arg369Gly Single submitter immunodeficiency 39 ⚠
- p.Arg37Cys Single submitter immunodeficiency 39 ⚠
- p.Arg408Ser Single submitter immunodeficiency 39 ⚠
- p.Arg418Trp Single submitter immunodeficiency 39 ⚠
- p.Arg422His Single submitter immunodeficiency 39 ⚠
- p.Arg422Pro Single submitter immunodeficiency 39
- p.Arg422Ser Single submitter immunodeficiency 39 ⚠
- p.Arg423His Single submitter immunodeficiency 39 ⚠
- p.Arg427Cys Single submitter immunodeficiency 39 ⚠
- p.Arg427His Single submitter immunodeficiency 39 ⚠
- p.Arg459Gln Single submitter immunodeficiency 39 ⚠
- p.Arg467His Single submitter immunodeficiency 39 ⚠
- p.Arg467Leu Single submitter immunodeficiency 39 ⚠
- p.Arg49Leu Single submitter immunodeficiency 39 ⚠
- p.Arg58His Single submitter immunodeficiency 39 ⚠
- p.Arg58Leu Single submitter immunodeficiency 39 ⚠
- p.Arg75Lys Single submitter immunodeficiency 39 ⚠
- p.Arg75Thr Single submitter immunodeficiency 39 ⚠
- p.Arg88Cys Single submitter
- p.Asn111Lys Single submitter immunodeficiency 39 ⚠
- p.Asn399Lys Single submitter immunodeficiency 39 ⚠
- p.Asp110Gly Single submitter immunodeficiency 39 ⚠
- p.Asp114Asn Single submitter immunodeficiency 39 ⚠
- p.Asp114Tyr Single submitter immunodeficiency 39
- p.Asp117Gly Single submitter immunodeficiency 39 ⚠
- p.Asp137Asn Single submitter immunodeficiency 39 ⚠
- p.Asp178Asn Single submitter immunodeficiency 39 ⚠
- p.Asp204Tyr Single submitter immunodeficiency 39 ⚠
- p.Asp290Asn Single submitter immunodeficiency 39 ⚠
- p.Asp318fs Single submitter immunodeficiency 39
- p.Asp325Glu Single submitter immunodeficiency 39 ⚠
- p.Asp339His Single submitter immunodeficiency 39 ⚠
- p.Asp406Ala Single submitter immunodeficiency 39 ⚠
- p.Asp406Asn Single submitter immunodeficiency 39 ⚠
- p.Asp490Asn Single submitter immunodeficiency 39 ⚠
- p.Asp491Asn Single submitter immunodeficiency 39 ⚠
- p.Cys191Arg Single submitter immunodeficiency 39 ⚠
- p.Cys26del Single submitter immunodeficiency 39
- p.Cys26Ser Single submitter ⚠
- p.Cys26Tyr Single submitter ⚠
- p.Cys278Arg Single submitter immunodeficiency 39 ⚠
- p.Cys374Ter Single submitter immunodeficiency 39
- p.Cys400Arg Single submitter immunodeficiency 39 ⚠
- p.Gln151= Single submitter immunodeficiency 39
- p.Gln189fs Single submitter immunodeficiency 39
- p.Gln266Arg Single submitter immunodeficiency 39 ⚠
- p.Gln282fs Single submitter immunodeficiency 39
- p.Gln282Leu Single submitter immunodeficiency 39 ⚠
- p.Gln302Ter Single submitter immunodeficiency 39
- p.Gln31Ter Single submitter immunodeficiency 39
- p.Gln328Glu Single submitter immunodeficiency 39 ⚠
- p.Gln466Arg Single submitter immunodeficiency 39 ⚠
- p.Glu140Gln Single submitter immunodeficiency 39 ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu142Asp Single submitter immunodeficiency 39 ⚠
- p.Glu16Lys Single submitter immunodeficiency 39 ⚠
- p.Glu213Lys Single submitter immunodeficiency 39 ⚠
- p.Glu216del Single submitter immunodeficiency 39
- p.Glu234Lys Single submitter immunodeficiency 39 ⚠
- p.Glu241Lys Single submitter immunodeficiency 39 ⚠
- p.Glu257Lys Single submitter immunodeficiency 39 ⚠
- p.Glu262Gln Single submitter immunodeficiency 39 ⚠
- p.Glu336Lys Single submitter immunodeficiency 39 ⚠
- p.Glu454Lys Single submitter immunodeficiency 39 ⚠
- p.Glu463Gln Single submitter immunodeficiency 39 ⚠
- p.Glu463Lys Single submitter immunodeficiency 39 ⚠
- p.Glu493Gln Single submitter immunodeficiency 39 ⚠
- p.Glu493Lys Single submitter immunodeficiency 39
- p.Glu493Val Single submitter
- p.Glu498Asp Single submitter immunodeficiency 39 ⚠
- p.Glu500Gly Single submitter immunodeficiency 39 ⚠
- p.Glu54Asp Single submitter immunodeficiency 39 ⚠
- p.Glu54Lys Single submitter immunodeficiency 39 ⚠
- p.Glu82fs Single submitter immunodeficiency 39
- p.Glu82Lys Single submitter immunodeficiency 39 ⚠
- p.Glu84Ala Single submitter immunodeficiency 39 ⚠
- p.Glu84Lys Single submitter immunodeficiency 39
- p.Gly113Glu Single submitter
- p.Gly133Asp Single submitter immunodeficiency 39 ⚠
- p.Gly135Asp Single submitter immunodeficiency 39 ⚠
- p.Gly152Ser Single submitter immunodeficiency 39 ⚠
- p.Gly153Arg Single submitter immunodeficiency 39 ⚠
- p.Gly156Arg Single submitter immunodeficiency 39 ⚠
- p.Gly156Glu Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly165_Ala168del Single submitter immunodeficiency 39
- p.Gly170Arg Single submitter immunodeficiency 39 ⚠
- p.Gly170Asp Single submitter immunodeficiency 39 ⚠
- p.Gly177Ala Single submitter immunodeficiency 39 ⚠
- p.Gly180Arg Single submitter immunodeficiency 39 ⚠
- p.Gly180Glu Single submitter immunodeficiency 39 ⚠
- p.Gly202Ala Single submitter immunodeficiency 39 ⚠
- p.Gly20Arg Single submitter immunodeficiency 39 ⚠
- p.Gly212Arg Single submitter immunodeficiency 39 ⚠
- p.Gly212Glu Single submitter immunodeficiency 39 ⚠
- p.Gly214Ala Single submitter immunodeficiency 39 ⚠
- p.Gly214Glu Single submitter immunodeficiency 39 ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly217Glu Single submitter immunodeficiency 39 ⚠
- p.Gly222Arg Single submitter immunodeficiency 39 ⚠
- p.Gly226Arg Single submitter immunodeficiency 39 ⚠
- p.Gly227Arg Single submitter immunodeficiency 39 ⚠
- p.Gly233Arg Single submitter immunodeficiency 39 ⚠
- p.Gly237Arg Single submitter immunodeficiency 39 ⚠
- p.Gly237Trp Single submitter immunodeficiency 39 ⚠
- p.Gly247Glu Single submitter immunodeficiency 39 ⚠
- p.Gly256Cys Single submitter immunodeficiency 39 ⚠
- p.Gly25Ser Single submitter immunodeficiency 39 ⚠
- p.Gly287Ala Single submitter immunodeficiency 39 ⚠
- p.Gly287Arg Single submitter immunodeficiency 39 ⚠
- p.Gly297Ser Single submitter ⚠
- p.Gly315Ser Single submitter immunodeficiency 39 ⚠
- p.Gly356Arg Single submitter immunodeficiency 39 ⚠
- p.Gly382Glu Single submitter immunodeficiency 39 ⚠
- p.Gly385Ala Single submitter ⚠
- p.Gly385Arg Single submitter immunodeficiency 39 ⚠
- p.Gly435Arg Single submitter immunodeficiency 39 ⚠
- p.Gly464Asp Single submitter immunodeficiency 39 ⚠
- p.Gly68Ser Single submitter ⚠
- p.Gly76Arg Single submitter immunodeficiency 39 ⚠
- p.Gly76Glu Single submitter immunodeficiency 39 ⚠