Sugi Variant

Sugi Variant/IL2RG

IL2RG — 510 ClinVar variants

All ClinVar germline IL2RG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

104 Pathogenic · 6 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 15 Conflicting · 27 Benign · 12 Benign/Likely benign · 156 Likely benign · 140 Uncertain significance

Full IL2RG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 8

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 88

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

Predictors split 32

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

All IL2RG variants

Pathogenic 104

  • c.115+1G>T Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.115+2T>C Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.116-1G>A Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+1G>T Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-2A>C Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-2A>T Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+1G>A Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg222Cys Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg224Trp Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg226Cys Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg226His Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg328Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys115Arg Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys62Arg Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys62Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln15Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln235Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln322Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu110Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu68Lys Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser94Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp237Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp240Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp246Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr69Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-15A>G Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-1G>A Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-2A>C Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg285Gln Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg289Ter Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asp192fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln141Ter Multiple submitters IL2RG-related disorders
  • p.Ile273fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Met1Thr Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser76delinsCysTer Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr43fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr105Cys Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val99fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.115+5G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+1G>A Single submitter
  • c.594+1G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+2_594+3del Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+5G>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-1G>C Single submitter
  • c.854+2T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-1G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-2A>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg224Pro Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg289fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn71delinsThrTer Single submitter
  • p.Asp39His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Cys182fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys330fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln118fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln118Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln126fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln131Ter Single submitter
  • p.Gln144Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln188Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln200Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu110fs Single submitter
  • p.Glu121fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu167fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu184Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu199Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu302fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly114Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His88fs Single submitter
  • p.Ile27fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu132fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu183fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu18fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu277fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu293Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu321fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu50fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu57fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys294fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys315fs Single submitter
  • p.Ser10fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser201Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser225Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser238Asn Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser308= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser308fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr143fs Single submitter
  • p.Thr44fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp174Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp237Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp282Ter Single submitter
  • p.Trp90fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp90Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr125Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr204Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr69fs Single submitter
  • p.Val129fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val202fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.454+1G>A No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn31fs No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln235_Trp237dup No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly114Asp No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile153Asn No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys119Ter No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser308Ter No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency

Pathogenic/Likely pathogenic 6

  • c.270-1G>T Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-2A>G Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu171Ter Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys120fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp240Arg Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val152Ala Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠

Likely pathogenic 50

  • c.116-2A>G Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys182Tyr Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys62Ser Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys72Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln61Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu34Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu59Ter Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val152Gly Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala156Val Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asp324fs Multiple submitters SCID with features of gamma chain deficiency
  • p.Leu162Arg Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+6T>C Single submitter IL2RG-related disorders
  • p.Arg222Gly Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg222Ser Single submitter
  • p.Arg226Leu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn180fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn84Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Cys115Phe Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys115Tyr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys182Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys231Tyr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Glu109_Ser113del Single submitter
  • p.Glu184Gly Single submitter ⚠
  • p.Glu239Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu327Gly Single submitter ⚠
  • p.Glu79fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly114Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly232Val Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.His163fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile122Asn Single submitter
  • p.Ile153Thr Single submitter ⚠
  • p.Leu146Pro Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu162fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu172Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu172Met Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu87Pro Single submitter
  • p.Phe221Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Phe227fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser225Gly Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser241_His242insArg Single submitter
  • p.Ser275fs Single submitter combined immunodeficiency
  • p.Thr161fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr86Asn Single submitter combined immunodeficiency, X-linked ⚠
  • p.Trp155Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Trp197Ter Single submitter IL2RG-related disorders
  • p.Trp237Cys Single submitter
  • p.Trp74Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr125Cys Single submitter combined immunodeficiency, X-linked
  • p.Val223Phe Single submitter Inborn genetic diseases
  • p.Leu14Pro No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠

Conflicting classifications of pathogenicity 15

  • c.594+5G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala318Val Single submitter Inborn genetic diseases ⚠
  • p.Arg218His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Glu253Asp Single submitter Inborn genetic diseases ⚠
  • p.Leu132His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu165Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe13Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro356Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser94Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr220Met Single submitter Inborn genetic diseases ⚠
  • p.Thr25Met Single submitter Inborn genetic diseases ⚠
  • p.Thr29Met Single submitter Inborn genetic diseases ⚠
  • p.Thr364Asn Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr44Ala Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Tyr69Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠

Benign 27

  • p.Glu109Lys Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+17G>A Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.115+163TCTT[4] Single submitter
  • c.270-58A>G Single submitter
  • c.594+16C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+211_594+212dup Single submitter
  • c.594+211dup Single submitter
  • c.594+214T>C Single submitter
  • c.594+225_594+226del Single submitter
  • c.594+226del Single submitter
  • c.758-14del Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-16T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+12G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala262= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg136Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn31Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln200His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu171Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu334= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His236= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu23= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys252Glu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser53= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser94= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr29= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr189= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr325= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency

Benign/Likely benign 12

  • c.455-8A>G Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.*290T>C Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn31Ser Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His304= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu132= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser113= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser266= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr25= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr26= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr286= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr286Met Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val67= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency

Likely benign 156

  • p.Arg136Trp Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln116His Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His104Leu Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.His354Arg Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile111Thr Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser326Asn Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Val267Ile Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.454+19G>A Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-4C>T Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+17G>A Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+198C>T Multiple submitters
  • p.Ile111= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile153= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Met145Lys Multiple submitters Inborn genetic diseases
  • p.Ser10= Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.115+10C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.116-14T>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.116-5T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.116-88A>T Single submitter
  • c.269+11G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+11G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+14C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+15G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+16del Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+17G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.269+18G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-11T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-15A>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-28C>A Single submitter
  • c.270-4C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-7C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-7C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.270-8T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.454+18G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.454+5T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-10A>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-13C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-17T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.455-19T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+10T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+16C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+7G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+7G>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+9C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.595-11T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.595-17T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.757+11C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.757+20C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.757+9G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-10T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-13C>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-13C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-14T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-19G>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-4A>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-8T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.854+11G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.854+15A>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.854+16G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.854+8T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-10C>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-16C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-18C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-19C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-20C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-5G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-5G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-5G>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-7_855-6del Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-8C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-8C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.855-9C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+10C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+10C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+12G>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+16T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+8C>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+8C>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+8C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.925-4T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.925-8G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.925-8G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala234= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala259= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala309= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala348Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala359= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg224= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg226= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg289= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg328= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn24= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asn93= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asp192= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asp203= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys278Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Cys72= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln188= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln353= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu109= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu121= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Glu68= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly20= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly247= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly268= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly345= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly347= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His123= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His185= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His206= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His206Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His242= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile111Met Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile122= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ile274= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu106= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu146= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu272= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu296= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu321= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu331= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu42= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu87= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys366= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys98= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Phe258= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro135= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro157= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro17= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro229= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro255= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro323= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro336= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro350Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro360= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro46= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro58= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser168= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser248Asn Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser251= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser349Ala Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser49= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ser77= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr127= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr220= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr36= Single submitter
  • p.Thr364= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr369= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr73= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr83= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr86= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr219= Single submitter
  • p.Tyr363= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr69= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr89= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr250= No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency

Uncertain significance 140

  • c.924+9G>T Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala359Val Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly232Arg Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly247Arg Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ile274Thr Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Lys98Glu Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro154Ser Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr369Ala Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Tyr219His Expert panel T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • c.-66T>C Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asp203Asn Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.His185Tyr Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu162Val Multiple submitters combined immunodeficiency, X-linked ⚠
  • p.Leu6Ser Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Phe208Leu Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro337Gln Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro361fs Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro56Leu Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro80Leu Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr286Arg Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp155Arg Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Tyr280Cys Multiple submitters T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • c.115+11T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.115+13G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.594+3G>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.595-12T>C Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.595-7C>T Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-14T>G Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.758-4dup Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.924+3G>A Single submitter
  • c.925-11T>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.*133G>A Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • c.*296G>A Single submitter
  • c.*306A>C Single submitter
  • c.*307_*308del Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Ala142Pro Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ala348Val Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg139Gly Single submitter ⚠
  • p.Arg140Thr Single submitter
  • p.Arg177Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg218Leu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg285Trp Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Arg289Gln Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn173Asp Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn175His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn228Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn254His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn254Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn33Asp Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn33Ser Single submitter ⚠
  • p.Asn66Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn84Lys Single submitter ⚠
  • p.Asn93Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asn96Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asp134Gly Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asp194Tyr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Asp324= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Asp97Tyr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Cys330Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys351Ter Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys362fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Cys72Phe Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gln116Pro Single submitter
  • p.Gln144_Met145delinsArgVal Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gln144Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu199Asp Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Glu319Lys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly215Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly247Glu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly271Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Gly32= Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His206Arg Single submitter Inborn genetic diseases ⚠
  • p.His236Arg Single submitter ⚠
  • p.His242Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ile27Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu11Phe Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu124_Tyr125insVal Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Leu132Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu151Pro Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu183Trp Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu186Val Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu260Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu260Val Single submitter Inborn genetic diseases ⚠
  • p.Leu365Pro Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Lys119Thr Single submitter ⚠
  • p.Lys120Glu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Lys164Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Lys252Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Lys366_Pro367delinsAsnSer Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Lys98Thr Single submitter Inborn genetic diseases ⚠
  • p.Met145Val Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Met270Thr Single submitter ⚠
  • p.Phe13Tyr Single submitter Inborn genetic diseases ⚠
  • p.Pro138Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro154His Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro211Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro229Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro255Ala Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro323Ala Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro337Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro350fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Pro361Ala Single submitter ⚠
  • p.Pro361Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro80Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Pro82Leu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser209Phe Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser251Pro Single submitter ⚠
  • p.Ser326Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser349Phe Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser349Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser51Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser76Gly Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser94Thr Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr26del Single submitter combined immunodeficiency, X-linked
  • p.Thr364fs Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Thr83Asn Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp155Ser Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp193Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp197Arg Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp240Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp246Arg Single submitter ⚠
  • p.Trp90Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Trp90Leu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Tyr89Cys Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Val152Leu Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Val21Ala Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Val223Ile Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Val279Met Single submitter T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Val332Ile Single submitter Inborn genetic diseases ⚠
  • p.Val64Met Single submitter ⚠
  • p.Arg139= No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Arg218= No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.Gly22= No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency
  • p.His304Arg No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Leu179Phe No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Phe128Leu No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Ser76Cys No assertion criteria IL2RG-related disorder ⚠
  • p.Thr36Ser No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr43Ser No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠
  • p.Thr9Ile No assertion criteria T-B+ severe combined immunodeficiency due to gamma chain deficiency ⚠