Sugi Variant

Sugi Variant/IL2RA

IL2RA — 357 ClinVar variants

All ClinVar germline IL2RA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

9 Pathogenic · 5 Likely pathogenic · 19 Conflicting · 28 Benign · 3 Benign/Likely benign · 123 Likely benign · 170 Uncertain significance

Full IL2RA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 7

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

Predictors lean, ClinVar uncertain 104

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

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

All IL2RA variants

Pathogenic 9

  • p.Gln101Ter Multiple submitters immunodeficiency due to CD25 deficiency
  • c.368-2A>G Single submitter
  • p.Arg56fs Single submitter immunodeficiency due to CD25 deficiency
  • p.Cys82Ter Single submitter immunodeficiency due to CD25 deficiency
  • p.Gly44Ter Single submitter immunodeficiency due to CD25 deficiency
  • p.Trp76Ter Single submitter immunodeficiency due to CD25 deficiency
  • p.Ser166Asn No assertion criteria immunodeficiency due to CD25 deficiency
  • p.Thr232fs No assertion criteria immunodeficiency due to CD25 deficiency
  • p.Tyr41Ser No assertion criteria immunodeficiency due to CD25 deficiency

Likely pathogenic 5

  • c.368-1G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.583+2T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.65-2A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.655+1G>A Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu50Ter Single submitter immunodeficiency due to CD25 deficiency

Conflicting classifications of pathogenicity 19

  • c.257-11A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.584-11C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.584-6C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.584-8del Single submitter type 1 diabetes mellitus 10
  • c.64+8C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.655+3G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.656-14T>A Single submitter immunodeficiency due to CD25 deficiency
  • p.Ala34Thr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg263Gln Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln223= Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu231= Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu231Gln Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ser60= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ser84= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr185Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Thr91Met Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val116Ala Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val215Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val253Ile Single submitter Myelodysplasia ⚠

Benign 28

  • c.367+12A>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.368-18A>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.65-20A>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.656-17T>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1008G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1267G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1461T>C Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1549C>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1672A>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1702C>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1880C>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1994G>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*2108T>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*55T>C Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*677G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*70G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*969G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • p.His172= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ile251= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Pro28= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Val153Ile Multiple submitters immunodeficiency due to CD25 deficiency
  • c.256+109T>C Single submitter
  • c.583+58A>G Single submitter
  • c.584-109C>T Single submitter
  • c.64+15308T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.655+52A>G Single submitter
  • c.795-92G>A Single submitter
  • c.*1024G>A Single submitter immunodeficiency due to CD25 deficiency

Benign/Likely benign 3

  • c.367+7G>C Multiple submitters immunodeficiency due to CD25 deficiency
  • c.368-16T>C Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Thr237= Multiple submitters immunodeficiency due to CD25 deficiency

Likely benign 123

  • c.367+10G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.584-12TC[4] Multiple submitters immunodeficiency due to CD25 deficiency
  • c.655+15A>C Multiple submitters immunodeficiency due to CD25 deficiency
  • c.655+19G>A Multiple submitters immunodeficiency due to CD25 deficiency
  • c.656-11_656-10del Multiple submitters immunodeficiency due to CD25 deficiency
  • c.795-7A>G Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*752A>G Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ala119= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.His33= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ser166= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ser202= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ser252= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ser75= Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Val94= Multiple submitters immunodeficiency due to CD25 deficiency
  • c.256+10C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.256+14C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.256+7G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.257-14T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.257-19T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.257-20A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.367+18C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.367+20T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.367+9T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.367+9T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.368-19_368-18delinsAG Single submitter immunodeficiency due to CD25 deficiency
  • c.368-19_368-18inv Single submitter immunodeficiency due to CD25 deficiency
  • c.368-20G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.368-4C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.368-8T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.583+10C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.583+19G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.583+20G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.583+9G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.584-10T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.584-12TC[2] Single submitter immunodeficiency due to CD25 deficiency
  • c.584-14A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.584-4C>A Single submitter immunodeficiency due to CD25 deficiency
  • c.584-5C>T Single submitter
  • c.584-7C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.64+10T>G Single submitter immunodeficiency due to CD25 deficiency
  • c.64+12T>G Single submitter immunodeficiency due to CD25 deficiency
  • c.65-10T>G Single submitter immunodeficiency due to CD25 deficiency
  • c.65-13T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.65-16T>G Single submitter immunodeficiency due to CD25 deficiency
  • c.65-18G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.655+18C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.656-12T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.656-15A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.656-19_656-16del Single submitter immunodeficiency due to CD25 deficiency
  • c.656-4A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.727+10G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.727+19T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.727+9G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.728-10C>G Single submitter immunodeficiency due to CD25 deficiency
  • c.728-10C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.728-12C>G Single submitter immunodeficiency due to CD25 deficiency
  • c.728-12C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.728-14C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.728-16CT[3] Single submitter immunodeficiency due to CD25 deficiency
  • c.728-7T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.728-8A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.794+10G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.794+10G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.794+16C>G Single submitter immunodeficiency due to CD25 deficiency
  • c.794+17C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.794+9G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.795-16T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.795-9C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1026G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1061C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*107C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1772A>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*183C>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*888C>T Single submitter immunodeficiency due to CD25 deficiency
  • p.Ala244= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ala34= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ala86= Single submitter immunodeficiency due to CD25 deficiency
  • p.Arg269= Single submitter immunodeficiency due to CD25 deficiency
  • p.Asp25= Single submitter immunodeficiency due to CD25 deficiency
  • p.Asp27= Single submitter immunodeficiency due to CD25 deficiency
  • p.Cys152= Single submitter immunodeficiency due to CD25 deficiency
  • p.Cys213= Single submitter immunodeficiency due to CD25 deficiency
  • p.Cys51= Single submitter immunodeficiency due to CD25 deficiency
  • p.Cys82= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gln114= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gln200= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gln79= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gln93= Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu165= Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu238= Single submitter immunodeficiency due to CD25 deficiency
  • p.Glu30= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gly195= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gly245= Single submitter immunodeficiency due to CD25 deficiency
  • p.Gly54= Single submitter immunodeficiency due to CD25 deficiency
  • p.His160= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ile183Thr Single submitter
  • p.Ile234= Single submitter immunodeficiency due to CD25 deficiency
  • p.Leu214= Single submitter immunodeficiency due to CD25 deficiency
  • p.Leu249= Single submitter immunodeficiency due to CD25 deficiency
  • p.Leu250= Single submitter
  • p.Leu256= Single submitter immunodeficiency due to CD25 deficiency
  • p.Leu259= Single submitter
  • p.Leu63= Single submitter immunodeficiency due to CD25 deficiency
  • p.Lys169= Single submitter immunodeficiency due to CD25 deficiency
  • p.Phe142= Single submitter immunodeficiency due to CD25 deficiency
  • p.Pro180= Single submitter immunodeficiency due to CD25 deficiency
  • p.Pro203= Single submitter immunodeficiency due to CD25 deficiency
  • p.Pro29= Single submitter
  • p.Pro32= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ser120= Single submitter immunodeficiency due to CD25 deficiency
  • p.Ser74= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr107= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr175= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr217= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr229= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr232= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr271= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr68= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr91= Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr95= Single submitter immunodeficiency due to CD25 deficiency
  • p.Tyr156= Single submitter immunodeficiency due to CD25 deficiency
  • p.Tyr239= Single submitter immunodeficiency due to CD25 deficiency
  • p.Val215= Single submitter immunodeficiency due to CD25 deficiency

Uncertain significance 170

  • c.256+5_256+13del Multiple submitters immunodeficiency due to CD25 deficiency
  • c.655+4C>T Multiple submitters immunodeficiency due to CD25 deficiency
  • c.*1026G>T Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Arg206Cys Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg206His Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg263Trp Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg56His Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg88Gln Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg88Pro Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Arg88Trp Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Asp26Asn Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Asp26His Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Cys152Arg Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Glu100Gly Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Glu204Lys Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Glu231Asp Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Glu99Asp Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Gly162Ser Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Gly173Arg Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Gly245Ser Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Gly61Arg Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Ile139Met Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Ile234Val Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Lys42Arg Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Met147Leu Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Met15Ile Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Met39Ile Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Met65Val Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Phe36Ser Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Pro28Leu Multiple submitters immunodeficiency due to CD25 deficiency
  • p.Ser111Asn Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Ser252Asn Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Thr217Ala Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Val167Ile Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • p.Val94Met Multiple submitters immunodeficiency due to CD25 deficiency ⚠
  • c.256+4A>C Single submitter immunodeficiency due to CD25 deficiency
  • c.257-3T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.367+3G>A Single submitter
  • c.584-3C>G Single submitter
  • c.655+4C>A Single submitter immunodeficiency due to CD25 deficiency
  • c.728-3C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.794+1G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.-19G>T Single submitter
  • c.-211C>G Single submitter immunodeficiency due to CD25 deficiency
  • c.-26C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.-68G>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*103C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1041C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1042G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1044T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*1084C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1186C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1426G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1443G>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*1454A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*1500T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*1539T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*1574C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*1575G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1619G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1643C>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1650G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*1766T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*1974C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*2055T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*2131A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*2144T>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*261A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*414C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*444T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*471G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*513T>C Single submitter immunodeficiency due to CD25 deficiency
  • c.*599C>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*672A>G Single submitter immunodeficiency due to CD25 deficiency
  • c.*676C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*767C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*884C>T Single submitter immunodeficiency due to CD25 deficiency
  • c.*895T>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*93G>A Single submitter immunodeficiency due to CD25 deficiency
  • c.*963A>C Single submitter immunodeficiency due to CD25 deficiency
  • p.Ala119Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ala164Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ala228Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ala242Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ala244Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ala38Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg176Gly Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg176Lys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg176Trp Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg206_Cys213del Single submitter immunodeficiency due to CD25 deficiency
  • p.Arg266Lys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg269Lys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg56Cys Single submitter immunodeficiency due to CD25 deficiency
  • p.Arg56Pro Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Arg57Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Asp25Asn Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Asp2Tyr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Asp77Asn Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Cys125Phe Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Cys51Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln101Glu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln110Glu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln110Lys Single submitter ⚠
  • p.Gln151His Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln179His Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln240Glu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gln97Pro Single submitter ⚠
  • p.Glu127Asp Single submitter ⚠
  • p.Glu134Gly Single submitter ⚠
  • p.Glu137Gly Single submitter ⚠
  • p.Glu165Asp Single submitter ⚠
  • p.Glu196Gly Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Glu197Lys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Glu208Asp Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Glu225Lys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Glu99Gln Single submitter ⚠
  • p.Gly162Asp Single submitter ⚠
  • p.Gly173Glu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gly186Ala Single submitter ⚠
  • p.Gly186Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gly258Glu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Gly61Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.His160Arg Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.His33Leu Single submitter ⚠
  • p.Ile183Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ile234Thr Single submitter ⚠
  • p.Ile272Asn Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ile272Thr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Leu182Val Single submitter ⚠
  • p.Leu256del Single submitter immunodeficiency due to CD25 deficiency
  • p.Leu63Pro Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met109Thr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met109Val Single submitter ⚠
  • p.Met113Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met226Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met230Val Single submitter ⚠
  • p.Met39Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met46Thr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met46Val Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Met65Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Phe13Tyr Single submitter ⚠
  • p.Phe193Leu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Pro130Gln Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Pro163Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Pro194Ser Single submitter ⚠
  • p.Pro29Leu Single submitter immunodeficiency due to CD25 deficiency
  • p.Ser120Asn Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ser191Arg Single submitter ⚠
  • p.Ser212Phe Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ser60Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ser74Leu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ser84Thr Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Ter273Ser Single submitter immunodeficiency due to CD25 deficiency
  • p.Thr211Ile Single submitter ⚠
  • p.Thr218Arg Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Thr232Met Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Thr68Ile Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Thr83Arg Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Thr87Ser Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Trp131Arg Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Tyr140Phe Single submitter ⚠
  • p.Tyr4His Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Tyr64Cys Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Tyr64His Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val143Leu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val143Met Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val144Gly Single submitter immunodeficiency due to CD25 deficiency
  • p.Val167Phe Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val241Leu Single submitter immunodeficiency due to CD25 deficiency ⚠
  • p.Val243= Single submitter immunodeficiency due to CD25 deficiency