Sugi Variant

Sugi Variant/CTLA4

CTLA4 — 278 ClinVar variants

All ClinVar germline CTLA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

38 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 9 Conflicting · 15 Benign · 62 Likely benign · 133 Uncertain significance

Full CTLA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

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.

Predictors split 44

The independent predictors disagree with each other — read with care.

All CTLA4 variants

Pathogenic 38

  • p.Ala121fs Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg51Ter Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg75Trp Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asp153Asn Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys35Ter Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu24fs Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu28fs Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro32fs Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln76Ter Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.458-1G>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.458-1G>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala2fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala54Pro Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala87fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg70_Val71insTer Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Cys58_Glu59delinsTer Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln117Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln42Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln80Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.His39fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu126fs Single submitter
  • p.Leu13fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu163fs Single submitter
  • p.Met1Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Met91fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro138Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ser50_Ser55del Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Trp165Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr139His Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr140Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr150Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Val73fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+1G>A No assertion criteria CTLA4-related disorder
  • c.567+5G>C No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Cys58fs No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln12Ter No assertion criteria CTLA4 Haploinsufficiency
  • p.Ile116fs No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Phe162fs No assertion criteria CTLA4 Haploinsufficiency

Pathogenic/Likely pathogenic 3

  • p.Arg70Trp Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly146Arg Multiple submitters Inborn genetic diseases
  • p.Trp20Ter Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Likely pathogenic 18

  • p.Pro136Ala Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro136Leu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro136Ser Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro137Arg Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro137Leu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr139Cys Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg70Gln Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • c.109+1G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.109+1G>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-1G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gln80_Ser101del Single submitter immunodeficiency, common variable, 1
  • p.Gly142_Ile143insMetGly Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro138Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr127Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr139Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr60Asn Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu74Pro No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Met134Arg No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Conflicting classifications of pathogenicity 9

  • p.Ala54Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys58Tyr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly109Glu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro137Gln Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro43Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr124Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr177fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr218Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val40Met Single submitter Inborn genetic diseases ⚠

Benign 15

  • c.109+76A>G Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-7A>G Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+154G>T Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala16Asp Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala86Val Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg8Gln Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Lys188Arg Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Met91Leu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro156Leu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro205= Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ser172= Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ser172Leu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr17Ala Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu25= Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.*375G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Likely benign 62

  • p.Cys3Phe Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr124Met Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu167= Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-14C>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-16G>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-4C>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.110-7A>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+12C>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+12C>T Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+13A>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+14T>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+7A>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+8A>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.458-19G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.567+16A>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.568-13T>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.568-16T>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala66= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala86= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ala87= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg120= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Arg75= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Asn14= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Asn145= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Asn223= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Asp100= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Cys103= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Glu208= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Glu59= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gly105= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gly199= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.His39= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ile143Val Single submitter
  • p.Ile31= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ile53= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu141= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu163= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu181= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu196= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu28= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu29= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu47= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Lys10= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Lys130= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Phe27= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro137= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro156= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro21= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr115= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr124= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr198= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr72= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr82= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr96= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr139= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr140= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr218= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr60= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Val57= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Val71= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Val73= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Pro154= No assertion criteria CTLA4-related disorder

Uncertain significance 133

  • p.Gly125Arg Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly146Val Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly173Glu Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr124Pro Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr177Asp Expert panel autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Arg75Gln Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asp99Gly Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys103Tyr Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys211Tyr Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly144Ser Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly52Asp Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly92Ala Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu163Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Met122Val Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Met189Val Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Met90Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met90Val Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro158Ser Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr207Ala Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr89His Multiple submitters autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • c.110-3T>C Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+1_457+3del Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+4A>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.457+6C>G Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.567+1G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.567+5G>A Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • c.-4A>G Single submitter
  • p.Ala11Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ala169Glu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ala2Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ala48Asp Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ala77Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ala86Gly Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Arg8Leu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Arg8Trp Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asn223Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asp153Tyr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asp161Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Asp99His Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys129Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys211Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys58Phe Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys58Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys85Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys85Trp Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Cys85Tyr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gln42His Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gln80Glu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Glu132Lys Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Glu155Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu155Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu155Lys Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly105Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly105Ser Single submitter ⚠
  • p.Gly109Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly118Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly125Glu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly144= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gly144Cys Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly146Leu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gly173= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Gly199Glu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly52Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Gly52Val Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.His9Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile102Val Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile116Asn Single submitter ⚠
  • p.Ile128Met Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile152= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Ile152Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile166Asn Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile166Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile166Val Single submitter ⚠
  • p.Ile220Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile222Asn Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ile222Val Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu119Gln Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu133Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu133Pro Single submitter ⚠
  • p.Leu141Pro Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu163Val Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu174del Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu174fs Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu180Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Leu186Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu190= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Leu4Phe Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Lys65Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Met122_Asp123delinsIleTyr Single submitter
  • p.Met134Val Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Met189Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Met91Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Phe175Tyr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro138Leu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro154Thr Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro209Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro209Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro21Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro21Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro32Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro32Ser Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro63Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro63Leu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Pro63Ser Single submitter ⚠
  • p.Ser108Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser55Asn Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Ser62Phe Single submitter ⚠
  • p.Thr104= Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Thr104Met Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr115Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr147Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr17Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr182Arg Single submitter ⚠
  • p.Thr19Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr23Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr72Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Thr72Pro Single submitter ⚠
  • p.Thr88Asn Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Trp165Arg Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr127Cys Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Tyr177Ter Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
  • p.Tyr89Cys Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val131Ala Single submitter ⚠
  • p.Val200Phe Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val33Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val45Met Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val46Ala Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val46Ile Single submitter ⚠
  • p.Val69Ile Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val71Leu Single submitter autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠
  • p.Val84Ile Single submitter Inborn genetic diseases ⚠
  • p.Gln76His No assertion criteria ⚠
  • p.Leu180Pro No assertion criteria autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency ⚠