TNFRSF9 — 200 ClinVar variants
All ClinVar germline TNFRSF9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 10 Benign · 3 Benign/Likely benign · 82 Likely benign · 87 Uncertain significance
Full TNFRSF9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TNFRSF9 p.Arg130His
Conflicting
Single submitter
Inborn genetic diseases
-
TNFRSF9 p.Arg134Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TNFRSF9 p.Pro47Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TNFRSF9 p.Ala169Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Arg244Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Arg66Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Asn39Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Cys117Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Cys5Gly
Uncertain significance
Multiple submitters
immunodeficiency 109 with lymphoproliferation
-
TNFRSF9 p.Gly96Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TNFRSF9 p.Lys69Glu Uncertain significance Multiple submitters
-
TNFRSF9 p.Pro160Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TNFRSF9 p.Pro227Ser Uncertain significance Multiple submitters
-
TNFRSF9 p.Thr89Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Tyr222Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Ala178Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Arg209His Uncertain significance Single submitter
- TNFRSF9 p.Arg20Ser Uncertain significance Single submitter
- TNFRSF9 p.Arg215Trp Uncertain significance Single submitter
- TNFRSF9 p.Arg217Gly Uncertain significance Single submitter
- TNFRSF9 p.Asn7Lys Uncertain significance Single submitter
- TNFRSF9 p.Asp119Glu Uncertain significance Single submitter
-
TNFRSF9 p.Asp127Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Asp142Val Uncertain significance Single submitter
- TNFRSF9 p.Asp239Glu Uncertain significance Single submitter
-
TNFRSF9 p.Cys62Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Cys78Tyr Uncertain significance Single submitter
- TNFRSF9 p.Gln108Glu Uncertain significance Single submitter
- TNFRSF9 p.Gln236Arg Uncertain significance Single submitter
- TNFRSF9 p.Glu250Gly Uncertain significance Single submitter
-
TNFRSF9 p.Gly109Ser
Uncertain significance
Single submitter
immunodeficiency 109 with lymphoproliferation
- TNFRSF9 p.Gly34Ser Uncertain significance Single submitter
- TNFRSF9 p.Ile223Thr Uncertain significance Single submitter
-
TNFRSF9 p.Ile8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Leu12Val Uncertain significance Single submitter
- TNFRSF9 p.Leu147Phe Uncertain significance Single submitter
-
TNFRSF9 p.Leu165Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Lys152Glu Uncertain significance Single submitter
- TNFRSF9 p.Lys76Arg Uncertain significance Single submitter
- TNFRSF9 p.Phe191Leu Uncertain significance Single submitter
- TNFRSF9 p.Phe201Leu Uncertain significance Single submitter
- TNFRSF9 p.Pro167Leu Uncertain significance Single submitter
- TNFRSF9 p.Pro174Leu Uncertain significance Single submitter
-
TNFRSF9 p.Pro90Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Ser100Arg Uncertain significance Single submitter
- TNFRSF9 p.Ser145Ala Uncertain significance Single submitter
-
TNFRSF9 p.Ser211Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Ser55Arg Uncertain significance Single submitter
-
TNFRSF9 p.Thr195Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Thr207Ala Uncertain significance Single submitter
- TNFRSF9 p.Thr207Met Uncertain significance Single submitter
- TNFRSF9 p.Thr89Ile Uncertain significance Single submitter
- TNFRSF9 p.Val232Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
TNFRSF9 p.Glu247Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Gly143Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNFRSF9 p.Ser82Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TNFRSF9 p.Thr151Met Uncertain significance Multiple submitters
- TNFRSF9 p.Arg130Cys Uncertain significance Single submitter
- TNFRSF9 p.Asp119His Uncertain significance Single submitter
- TNFRSF9 p.Gly116Ala Uncertain significance Single submitter
-
TNFRSF9 p.Gly96Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TNFRSF9 p.Leu202Pro Uncertain significance Single submitter
- TNFRSF9 p.Phe72Ser Uncertain significance Single submitter
-
TNFRSF9 p.Phe92Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNFRSF9 p.Ser52Asn
Uncertain significance
Single submitter
immunodeficiency 109 with lymphoproliferation
- TNFRSF9 p.Thr195Arg Uncertain significance Single submitter
- TNFRSF9 p.Val156Met Uncertain significance Single submitter
All TNFRSF9 variants
Pathogenic 9
- c.100+1G>A Multiple submitters
- p.Arg20fs Single submitter
- p.Asn51fs Single submitter
- p.Gln104Ter Single submitter
- p.Gln110fs Single submitter
- p.Gly116fs Single submitter
- p.Met101fs Single submitter
- p.Ser55fs Single submitter
- p.Trp136Ter Single submitter
Pathogenic/Likely pathogenic 2
- p.Ala193fs Multiple submitters TNFRSF9-related disorder
- p.Arg134Ter Multiple submitters
Likely pathogenic 2
- c.413+2T>C Single submitter
- c.545-1G>A Single submitter
Conflicting classifications of pathogenicity 5
- c.208+5_208+16del Single submitter
- c.413+4C>T Single submitter
- p.Arg130His Single submitter Inborn genetic diseases ⚠
- p.Arg134Gln Single submitter Inborn genetic diseases ⚠
- p.Pro47Leu Single submitter Inborn genetic diseases ⚠
Benign 10
- c.346+4C>G Multiple submitters
- p.Ala10= Multiple submitters
- p.Ala176Asp Multiple submitters
- p.Cys28= Multiple submitters
- c.101-6_101-3del Single submitter
- c.101-75A>C Single submitter
- c.413+1116T>C Single submitter
- c.413+1248GTTT[7] Single submitter
- c.680-1051A>G Single submitter
- c.680-3del Single submitter
Benign/Likely benign 3
- c.680-12dup Multiple submitters
- p.Ala56Thr Multiple submitters
- p.Ala97= Multiple submitters
Likely benign 82
- c.100+19T>C Multiple submitters
- c.209-18G>T Multiple submitters
- c.346+11G>A Multiple submitters
- c.347-20G>T Multiple submitters
- c.679+13T>C Multiple submitters
- c.680-13A>T Multiple submitters
- p.Ala163= Multiple submitters
- p.Ala178= Multiple submitters
- p.Ala193= Multiple submitters
- p.Ala198= Multiple submitters
- p.Asp155= Multiple submitters
- p.Cys65= Multiple submitters
- p.Ser55= Multiple submitters Inborn genetic diseases
- p.Thr151= Multiple submitters
- c.208+10C>T Single submitter
- c.208+11A>G Single submitter
- c.208+15A>G Single submitter
- c.208+17A>G Single submitter
- c.208+20T>G Single submitter
- c.209-10G>T Single submitter
- c.209-4G>A Single submitter
- c.346+10C>T Single submitter
- c.346+14T>G Single submitter
- c.347-13T>A Single submitter
- c.347-14A>G Single submitter
- c.347-15C>A Single submitter
- c.347-18T>C Single submitter
- c.347-9T>A Single submitter
- c.413+20G>T Single submitter
- c.413+8T>C Single submitter
- c.414-4T>C Single submitter
- c.544+13T>C Single submitter
- c.544+16C>T Single submitter
- c.544+7G>T Single submitter
- c.544+8_544+12dup Single submitter
- c.544+8G>T Single submitter
- c.545-11G>A Single submitter
- c.545-13C>G Single submitter
- c.545-15T>G Single submitter
- c.545-4G>T Single submitter
- c.679+15A>G Single submitter
- c.680-12T>A Single submitter
- c.680-15A>T Single submitter
- c.680-7T>G Single submitter
- c.680-8T>G Single submitter
- p.Arg130= Single submitter
- p.Arg215Gln Single submitter Inborn genetic diseases
- p.Asn126= Single submitter
- p.Asn83= Single submitter
- p.Asp127= Single submitter
- p.Asp26= Single submitter
- p.Gln186= Single submitter
- p.Glu103= Single submitter
- p.Gly150= Single submitter
- p.Gly2= Single submitter
- p.Gly91= Single submitter
- p.Ile187= Single submitter
- p.Ile188= Single submitter
- p.Leu12= Single submitter
- p.Leu141= Single submitter
- p.Leu192= Single submitter
- p.Leu203= Single submitter
- p.Leu221= Single submitter
- p.Leu24= Single submitter
- p.Leu255= Single submitter
- p.Leu95= Single submitter
- p.Lys115Asn Single submitter
- p.Phe228= Single submitter
- p.Pro135= Single submitter
- p.Pro167= Single submitter
- p.Pro174= Single submitter
- p.Pro185= Single submitter
- p.Pro231= Single submitter
- p.Ser170= Single submitter
- p.Ser184= Single submitter
- p.Ser196= Single submitter
- p.Ser52= Single submitter
- p.Ser54= Single submitter
- p.Thr207= Single submitter
- p.Thr21= Single submitter
- p.Thr61= Single submitter
- p.Val15= Single submitter
Uncertain significance 87
- p.Ala169Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg244Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg66Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn39Asp Multiple submitters Inborn genetic diseases ⚠
- p.Cys117Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys241Tyr Multiple submitters Inborn genetic diseases
- p.Cys5Gly Multiple submitters immunodeficiency 109 with lymphoproliferation ⚠
- p.Glu247Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly143Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly143Val Multiple submitters Inborn genetic diseases
- p.Gly70Asp Multiple submitters Inborn genetic diseases
- p.Gly96Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys69Glu Multiple submitters ⚠
- p.Pro160Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro227Ser Multiple submitters ⚠
- p.Ser82Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr151Met Multiple submitters ⚠
- p.Thr89Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr222Cys Multiple submitters Inborn genetic diseases ⚠
- c.100+5G>A Single submitter
- c.101-3T>A Single submitter
- c.101-42_101-3del Single submitter
- c.101-6T>G Single submitter
- c.346+4C>T Single submitter
- c.346+5G>A Single submitter
- c.347-3A>G Single submitter
- c.544+3A>G Single submitter
- c.679+1G>A Single submitter
- p.Ala178Thr Single submitter Inborn genetic diseases ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg217Gly Single submitter ⚠
- p.Arg244Ter Single submitter immunodeficiency 109 with lymphoproliferation
- p.Asn149= Single submitter
- p.Asn7Lys Single submitter ⚠
- p.Asp119Glu Single submitter ⚠
- p.Asp119His Single submitter ⚠
- p.Asp127Asn Single submitter Inborn genetic diseases ⚠
- p.Asp142Val Single submitter ⚠
- p.Asp239Glu Single submitter ⚠
- p.Cys62Phe Single submitter Inborn genetic diseases ⚠
- p.Cys78Tyr Single submitter ⚠
- p.Gln108Glu Single submitter ⚠
- p.Gln236Arg Single submitter ⚠
- p.Gln236His Single submitter
- p.Glu248Gln Single submitter Inborn genetic diseases
- p.Glu248Ter Single submitter
- p.Glu249_Glu250insGly Single submitter
- p.Glu250del Single submitter
- p.Glu250Gly Single submitter ⚠
- p.Gly109Ser Single submitter immunodeficiency 109 with lymphoproliferation ⚠
- p.Gly116Ala Single submitter ⚠
- p.Gly131Ile Single submitter
- p.Gly34Ser Single submitter ⚠
- p.Gly96Ala Single submitter Inborn genetic diseases ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile8Thr Single submitter Inborn genetic diseases ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Leu165Pro Single submitter Inborn genetic diseases ⚠
- p.Leu202Pro Single submitter ⚠
- p.Lys152Glu Single submitter ⚠
- p.Lys219fs Single submitter
- p.Lys76Arg Single submitter ⚠
- p.Phe191del Single submitter
- p.Phe191Leu Single submitter ⚠
- p.Phe201Leu Single submitter ⚠
- p.Phe205= Single submitter
- p.Phe72Ser Single submitter ⚠
- p.Phe92Cys Single submitter Inborn genetic diseases ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro90Ala Single submitter Inborn genetic diseases ⚠
- p.Ser100Arg Single submitter ⚠
- p.Ser145Ala Single submitter ⚠
- p.Ser211Phe Single submitter Inborn genetic diseases ⚠
- p.Ser52Asn Single submitter immunodeficiency 109 with lymphoproliferation ⚠
- p.Ser55Arg Single submitter ⚠
- p.Thr195Arg Single submitter ⚠
- p.Thr195Met Single submitter Inborn genetic diseases ⚠
- p.Thr207Ala Single submitter ⚠
- p.Thr207Met Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Val156Met Single submitter ⚠
- p.Val232Ala Single submitter ⚠