CD27 — 230 ClinVar variants
All ClinVar germline CD27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
11 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 10 Benign · 1 Benign/Likely benign · 81 Likely benign · 115 Uncertain significance
Full CD27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CD27 p.Ala130Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CD27 p.Val11Ile
Conflicting
Single submitter
lymphoproliferative syndrome 2
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CD27 p.Ala164Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Ala229Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg155Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg172Gln
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg172Gly
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg182Ser
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg238Lys
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
CD27 p.Arg3Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Arg85Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Asp188Asn
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Cys232Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Glu241Lys
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Glu255Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Gly13Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.His139Gln
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Leu163Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Met199Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Phe166Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Pro124Arg
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Pro138Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Pro225Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Pro237Ser
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Pro260Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Pro67Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Ser132Leu
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Val50Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CD27 p.Val69Ala
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Val93Ile
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Ala130Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ala23Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ala34Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg107His
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg131Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg191Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg191His
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg238Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg238Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg238Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg30Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg3Trp
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg78Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Asp188Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys10Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys112Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys120Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys27Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys65Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Cys87Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Gln41Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Glu119Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Glu119Lys
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Glu255Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Glu44Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Gly68Trp
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.His212Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.His5Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ile192Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Leu169Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Lys25Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Met151Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Phe196Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Phe48Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro170Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Pro180Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro228Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Pro254Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro256Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro260Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro260Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro67Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ser149Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Ser224Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ser70Pro
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr129Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr21Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr47Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Trp110Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Val148Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Val69Phe
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
Predictors split 30
The independent predictors disagree with each other — read with care.
-
CD27 p.Ala59Thr
Benign
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Arg131Trp
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 2
-
CD27 p.Gly13Arg
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
CD27 p.Ala100Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ala34Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg107Cys
Conflicting
Single submitter
immunodeficiency disease
-
CD27 p.Arg94Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg94Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Arg94His
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Asp52Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Glu82Asp
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Gly13Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Gly36Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.His56Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.His75Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.His76Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ile245Asn
Uncertain significance
Single submitter
autoinflammatory syndrome
-
CD27 p.Lys58Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Phe210Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro122Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Pro170Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Pro45Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Ser186Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Ser26Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CD27 p.Thr118Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr156Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr77Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Thr99Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Trp8Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
-
CD27 p.Trp8Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 2
All CD27 variants
Pathogenic 11
- p.Cys53Tyr Multiple submitters lymphoproliferative syndrome 2
- p.Cys84fs Single submitter combined immunodeficiency
- p.Gln134fs Single submitter lymphoproliferative syndrome 2
- p.Gln141Ter Single submitter lymphoproliferative syndrome 2
- p.His80fs Single submitter lymphoproliferative syndrome 2
- p.His86fs Single submitter lymphoproliferative syndrome 2
- p.Met160fs Single submitter lymphoproliferative syndrome 2
- p.Ser137fs Single submitter lymphoproliferative syndrome 2
- p.Ser89fs Single submitter
- p.Tyr147Ter Single submitter lymphoproliferative syndrome 2
- p.Trp8Ter No assertion criteria lymphoproliferative syndrome 2
Pathogenic/Likely pathogenic 2
- p.Asp52fs Multiple submitters lymphoproliferative syndrome 2
- p.Leu136fs Multiple submitters lymphoproliferative syndrome 2
Likely pathogenic 5
- c.538+1G>A Single submitter lymphoproliferative syndrome 2
- c.538+1G>C Single submitter lymphoproliferative syndrome 2
- p.Ter261SerextTer? Single submitter
- p.Trp33Ter Single submitter lymphoproliferative syndrome 2
- c.136+2T>C No assertion criteria
Conflicting classifications of pathogenicity 5
- c.539-6T>C Single submitter lymphoproliferative syndrome 2
- p.Ala130Thr Single submitter Inborn genetic diseases ⚠
- p.Arg107Cys Single submitter immunodeficiency disease ⚠
- p.Gln181Ter Single submitter lymphoproliferative syndrome 2
- p.Val11Ile Single submitter lymphoproliferative syndrome 2 ⚠
Benign 10
- c.136+32G>C Multiple submitters
- c.269-9T>C Multiple submitters autoinflammatory syndrome
- c.*15G>T Multiple submitters lymphoproliferative syndrome 2
- p.Ala59Thr Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.His233Arg Multiple submitters lymphoproliferative syndrome 2
- c.136+11dup Single submitter lymphoproliferative syndrome 2
- c.268+492T>A Single submitter
- c.448+12G>A Single submitter lymphoproliferative syndrome 2
- p.His233= Single submitter lymphoproliferative syndrome 2
- p.Tyr32= Single submitter
Benign/Likely benign 1
- p.Cys10= Multiple submitters autoinflammatory syndrome
Likely benign 81
- p.Arg238= Multiple submitters lymphoproliferative syndrome 2
- p.Asp165= Multiple submitters lymphoproliferative syndrome 2
- p.Leu184= Multiple submitters lymphoproliferative syndrome 2
- p.Thr118= Multiple submitters lymphoproliferative syndrome 2
- c.136+10G>A Single submitter lymphoproliferative syndrome 2
- c.136+15T>C Single submitter lymphoproliferative syndrome 2
- c.136+19A>G Single submitter lymphoproliferative syndrome 2
- c.136+19A>T Single submitter lymphoproliferative syndrome 2
- c.136+8G>A Single submitter lymphoproliferative syndrome 2
- c.137-10C>G Single submitter lymphoproliferative syndrome 2
- c.137-17T>G Single submitter lymphoproliferative syndrome 2
- c.137-20C>G Single submitter lymphoproliferative syndrome 2
- c.137-4C>T Single submitter lymphoproliferative syndrome 2
- c.137-5C>T Single submitter lymphoproliferative syndrome 2
- c.137-7C>T Single submitter lymphoproliferative syndrome 2
- c.137-8C>T Single submitter lymphoproliferative syndrome 2
- c.268+10G>A Single submitter lymphoproliferative syndrome 2
- c.269-10C>T Single submitter lymphoproliferative syndrome 2
- c.269-15C>A Single submitter lymphoproliferative syndrome 2
- c.269-7C>G Single submitter lymphoproliferative syndrome 2
- c.269-8T>G Single submitter lymphoproliferative syndrome 2
- c.449-16_449-13del Single submitter lymphoproliferative syndrome 2
- c.538+11T>G Single submitter lymphoproliferative syndrome 2
- c.538+14T>C Single submitter lymphoproliferative syndrome 2
- c.538+7T>C Single submitter lymphoproliferative syndrome 2
- c.539-13C>T Single submitter lymphoproliferative syndrome 2
- c.539-15C>T Single submitter lymphoproliferative syndrome 2
- c.539-20T>C Single submitter lymphoproliferative syndrome 2
- c.658+10A>G Single submitter lymphoproliferative syndrome 2
- c.658+14C>T Single submitter lymphoproliferative syndrome 2
- c.658+15A>T Single submitter lymphoproliferative syndrome 2
- c.658+18G>A Single submitter lymphoproliferative syndrome 2
- c.658+19G>T Single submitter lymphoproliferative syndrome 2
- c.658+7G>C Single submitter lymphoproliferative syndrome 2
- c.659-10C>G Single submitter lymphoproliferative syndrome 2
- p.Ala135= Single submitter lymphoproliferative syndrome 2
- p.Ala135= Single submitter lymphoproliferative syndrome 2
- p.Ala206= Single submitter lymphoproliferative syndrome 2
- p.Arg167= Single submitter lymphoproliferative syndrome 2
- p.Asp54= Single submitter lymphoproliferative syndrome 2
- p.Asp74= Single submitter lymphoproliferative syndrome 2
- p.Cys236= Single submitter lymphoproliferative syndrome 2
- p.Cys39= Single submitter lymphoproliferative syndrome 2
- p.Cys43= Single submitter lymphoproliferative syndrome 2
- p.Cys62= Single submitter lymphoproliferative syndrome 2
- p.Cys81= Single submitter lymphoproliferative syndrome 2
- p.Cys87= Single submitter lymphoproliferative syndrome 2
- p.Gln248= Single submitter lymphoproliferative syndrome 2
- p.Glu227= Single submitter lymphoproliferative syndrome 2
- p.Glu241= Single submitter lymphoproliferative syndrome 2
- p.Gly158= Single submitter lymphoproliferative syndrome 2
- p.His75= Single submitter lymphoproliferative syndrome 2
- p.Leu136= Single submitter lymphoproliferative syndrome 2
- p.Leu201= Single submitter lymphoproliferative syndrome 2
- p.Leu38= Single submitter lymphoproliferative syndrome 2
- p.Leu49= Single submitter lymphoproliferative syndrome 2
- p.Leu9= Single submitter lymphoproliferative syndrome 2
- p.Leu92= Single submitter lymphoproliferative syndrome 2
- p.Phe200= Single submitter lymphoproliferative syndrome 2
- p.Pro142= Single submitter lymphoproliferative syndrome 2
- p.Pro170= Single submitter lymphoproliferative syndrome 2
- p.Pro24= Single submitter lymphoproliferative syndrome 2
- p.Pro254= Single submitter lymphoproliferative syndrome 2
- p.Pro260= Single submitter lymphoproliferative syndrome 2
- p.Pro67= Single submitter lymphoproliferative syndrome 2
- p.Ser127= Single submitter lymphoproliferative syndrome 2
- p.Ser132= Single submitter lymphoproliferative syndrome 2
- p.Ser133= Single submitter lymphoproliferative syndrome 2
- p.Ser137= Single submitter lymphoproliferative syndrome 2
- p.Ser175= Single submitter lymphoproliferative syndrome 2
- p.Ser187= Single submitter lymphoproliferative syndrome 2
- p.Ser70= Single submitter lymphoproliferative syndrome 2
- p.Thr129= Single submitter lymphoproliferative syndrome 2
- p.Thr14= Single submitter lymphoproliferative syndrome 2
- p.Thr143= Single submitter
- p.Thr156= Single submitter lymphoproliferative syndrome 2
- p.Thr21= Single submitter lymphoproliferative syndrome 2
- p.Thr77= Single submitter lymphoproliferative syndrome 2
- p.Tyr217= Single submitter lymphoproliferative syndrome 2
- p.Val69= Single submitter lymphoproliferative syndrome 2
- p.Gly17= No assertion criteria CD27-related disorder
Uncertain significance 115
- p.Ala164Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala229Thr Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg131Trp Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg155Thr Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg172Gln Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg172Gly Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg182Ser Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Arg238Lys Multiple submitters autoinflammatory syndrome ⚠
- p.Arg3Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg85Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp188Asn Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Cys232Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu241Lys Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Glu255Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly13Arg Multiple submitters autoinflammatory syndrome ⚠
- p.Gly13Trp Multiple submitters Inborn genetic diseases ⚠
- p.His139Gln Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Leu163Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met199Thr Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Phe166Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro124Arg Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Pro138Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro225Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro237Ser Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Pro260Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro67Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser132Leu Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Val50Met Multiple submitters Inborn genetic diseases ⚠
- p.Val69Ala Multiple submitters lymphoproliferative syndrome 2 ⚠
- p.Val93Ile Multiple submitters lymphoproliferative syndrome 2 ⚠
- c.268+18G>A Single submitter lymphoproliferative syndrome 2
- c.268+3G>A Single submitter lymphoproliferative syndrome 2
- c.269-3C>T Single submitter lymphoproliferative syndrome 2
- c.448+13C>T Single submitter lymphoproliferative syndrome 2
- c.659-6C>T Single submitter lymphoproliferative syndrome 2
- p.Ala100Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ala130Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ala23Thr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ala34Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ala34Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg107His Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg131Gln Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg191Cys Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg191His Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg238Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg238Ser Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg238Thr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg30Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg3Trp Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg78Gln Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg94Cys Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg94Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Arg94His Single submitter lymphoproliferative syndrome 2 ⚠
- p.Asp188Glu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Asp52Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys10Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys112Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys120Tyr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys27Tyr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys65Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Cys87Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln41Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Glu119Gln Single submitter lymphoproliferative syndrome 2 ⚠
- p.Glu119Lys Single submitter lymphoproliferative syndrome 2 ⚠
- p.Glu241del Single submitter lymphoproliferative syndrome 2
- p.Glu255Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Glu44Lys Single submitter Inborn genetic diseases ⚠
- p.Glu82Asp Single submitter lymphoproliferative syndrome 2 ⚠
- p.Gly13Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Gly36Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Gly68Trp Single submitter lymphoproliferative syndrome 2 ⚠
- p.His212Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.His56Tyr Single submitter lymphoproliferative syndrome 2 ⚠
- p.His5Gln Single submitter lymphoproliferative syndrome 2 ⚠
- p.His75Asn Single submitter lymphoproliferative syndrome 2 ⚠
- p.His76Tyr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ile190fs Single submitter
- p.Ile192Thr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ile245Asn Single submitter autoinflammatory syndrome ⚠
- p.Leu169Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Lys25Glu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Lys58Asn Single submitter lymphoproliferative syndrome 2 ⚠
- p.Met151Val Single submitter lymphoproliferative syndrome 2 ⚠
- p.Phe196Leu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Phe210Leu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Phe48Tyr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro122Thr Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro170Leu Single submitter Inborn genetic diseases ⚠
- p.Pro170Ser Single submitter Inborn genetic diseases ⚠
- p.Pro180Ser Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro228Leu Single submitter Inborn genetic diseases ⚠
- p.Pro254Gln Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro256Ala Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro260Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro260Leu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro45Ser Single submitter lymphoproliferative syndrome 2 ⚠
- p.Pro67Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ser149Arg Single submitter Inborn genetic diseases ⚠
- p.Ser186Gly Single submitter Inborn genetic diseases ⚠
- p.Ser224Asn Single submitter lymphoproliferative syndrome 2 ⚠
- p.Ser26Asn Single submitter Inborn genetic diseases ⚠
- p.Ser70Pro Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr118Asn Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr129Ser Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr156Ile Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr21Ile Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr47Ser Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr77Ile Single submitter lymphoproliferative syndrome 2 ⚠
- p.Thr99Ile Single submitter lymphoproliferative syndrome 2 ⚠
- p.Trp110Leu Single submitter lymphoproliferative syndrome 2 ⚠
- p.Trp8Arg Single submitter lymphoproliferative syndrome 2 ⚠
- p.Trp8Gly Single submitter lymphoproliferative syndrome 2 ⚠
- p.Val148Ile Single submitter lymphoproliferative syndrome 2 ⚠
- p.Val69Phe Single submitter lymphoproliferative syndrome 2 ⚠
- p.Met1Val No assertion criteria