RAG2 — 602 ClinVar variants
All ClinVar germline RAG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →
45 Pathogenic · 19 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 24 Conflicting · 10 Benign · 1 Benign/Likely benign · 176 Likely benign · 252 Uncertain significance
Full RAG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 283
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 7
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RAG2 p.Asp65Tyr
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Pro305Ala
Likely pathogenic
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Thr77Asn
Likely pathogenic
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Glu170Gly
Likely pathogenic
Single submitter
Omenn syndrome
-
RAG2 p.Ile210Thr
Pathogenic
Single submitter
common variable immunodeficiency
-
RAG2 p.Ser447Cys
Likely pathogenic
Single submitter
Omenn syndrome
-
RAG2 p.Thr250Arg
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RAG2 p.Arg123Cys
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Arg464His
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Arg506His
Conflicting
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Cys478Tyr
Conflicting
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly342Glu
Conflicting
Single submitter
Inborn genetic diseases
-
RAG2 p.Gly95Glu
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.His481Leu
Conflicting
Single submitter
Omenn syndrome
-
RAG2 p.His481Pro
Conflicting
Single submitter
inborn error of immunity
-
RAG2 p.Met162Ile
Conflicting
Single submitter
Inborn genetic diseases
-
RAG2 p.Met502Val
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RAG2 p.Asn23Ser
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Asn474Ser
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Asp25Gly
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Glu303Asp
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gly18Val
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gly26Ala
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gly32Val
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Ile12Thr
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Met110Leu
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Met5Leu
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Met5Lys
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Ser9Gly
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Thr7Ala
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Ala462Thr
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg123His
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg300Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Arg506Cys
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn268Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Asn364Lys
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn53His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Cys181Arg
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Gln90Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Glu483Lys
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly373Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Gly509Val
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.His468Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.His47Gln
Uncertain significance
Multiple submitters
Omenn syndrome
-
RAG2 p.Pro245Ser
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Thr418Ile
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr515Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Val45Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Ala388Glu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ala462Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Arg137Lys
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg148Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg237Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Arg464Cys
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg464Pro
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg493Ile
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- RAG2 p.Arg73Pro Uncertain significance Single submitter
-
RAG2 p.Asn226Ser
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Asn232Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn248Lys
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Asn268His
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn295Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Asn324Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Asp306Tyr
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asp354Asn
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Asp397Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Asp527Glu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Cys178Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Cys446Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gln27Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gln282Lys
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gln359Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gln492Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Glu188Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Glu301Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Glu341Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Glu412Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Glu85Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly153Asp
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly158Val
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly254Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Gly395Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly44Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Gly472Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly96Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.His166Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.His207Gln
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.His207Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.His489Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.His52Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.His52Gln
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.His54Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.His89Tyr
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ile210Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Ile216Asn
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ile228Phe
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ile256Leu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ile273Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Ile311Val
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ile331Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Ile92Val
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu155His
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Leu240Pro
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu329Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Leu514Phe
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu522Phe
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- RAG2 p.Lys118Arg Uncertain significance Single submitter
-
RAG2 p.Lys349Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Lys440Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Lys81Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Met110Lys
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Met110Val
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Met152Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
- RAG2 p.Met162Val Uncertain significance Single submitter
-
RAG2 p.Met302Leu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Met322Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Met347Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Phe328Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Phe362Leu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Phe399Ser
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Phe80Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Pro241Leu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Pro253Arg
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Pro309Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Pro496Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro501Ala
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro516Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ser259Phe
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ser387Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Ser473Gly
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr125Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Thr215Asn
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr304Ile
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Thr326Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Thr360Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Thr361Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Thr376Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr79Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Trp307Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Tyr195His
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Val109Asp
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Val145Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Val154Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Val247Glu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Val251Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Val258Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Val272Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Val482Met
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Val50Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Val6Ile
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ala487Pro
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asn226Asp
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asn281Ser
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asn479Ser
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asp306Gly
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asp396Asn
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Asp397Glu
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Glu352Asp
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Ile112Thr
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Leu329Arg
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Leu3Pro
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Ser164Phe
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Val425Met
Uncertain significance
No assertion criteria
Omenn syndrome
Predictors split 120
The independent predictors disagree with each other — read with care.
-
RAG2 p.Arg167Ser
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Arg229Gln
Pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Arg229Trp
Pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Arg39Gly
Pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Arg73Cys
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Asn101Ser
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gln16His
Uncertain significance
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Glu437Lys
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gly35Ala
Pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Gly451Ala
Pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Ile444Met
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Leu466Phe
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Phe386Leu
Benign
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Trp416Leu
Likely pathogenic
Expert panel
recombinase activating gene 2 deficiency
-
RAG2 p.Arg229Leu
Likely pathogenic
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Arg73His
Pathogenic/Likely pathogenic
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Asn101Lys
Likely pathogenic
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asp380Tyr
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Asp396Gly
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asp400His
Uncertain significance
Multiple submitters
Omenn syndrome
-
RAG2 p.Cys41Trp
Pathogenic/Likely pathogenic
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Glu270Gly
Uncertain significance
Multiple submitters
RAG2-related disorder
-
RAG2 p.Glu303Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAG2 p.Gly35Val
Pathogenic/Likely pathogenic
Multiple submitters
RAG2-related disorder
-
RAG2 p.Met285Arg
Likely pathogenic
Multiple submitters
recombinase activating gene 2 deficiency
-
RAG2 p.Met459Leu
Likely pathogenic
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Tyr402Cys
Uncertain significance
Multiple submitters
combined immunodeficiency with skin granulomas
-
RAG2 p.Val144Ala
Uncertain significance
Multiple submitters
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ala136Val
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ala442Thr
Conflicting
Single submitter
recombinase activating gene 2 deficiency
-
RAG2 p.Ala456Asp
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ala456Thr
Likely pathogenic
Single submitter
Omenn syndrome
-
RAG2 p.Arg284Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Arg39Ile
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn173Ser
Conflicting
Single submitter
Omenn syndrome
-
RAG2 p.Asn428His
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asn428Ile
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Asp132Gly
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Asp374His
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- RAG2 p.Asp380Gly Uncertain significance Single submitter
-
RAG2 p.Asp400Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Cys419Trp
Pathogenic
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Cys41Tyr
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Cys423Tyr
Pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Cys67Phe
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gln366Glu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Glu126Gln
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Glu188Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Glu303Lys
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Glu382Gly
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Glu383Lys
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- RAG2 p.Glu410Gln Uncertain significance Single submitter
-
RAG2 p.Gly149Glu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly153Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Gly190Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Gly255Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly255Val
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly333Glu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly35Ser
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Gly449Ala
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Gly44Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ile311Thr
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Ile444Phe
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu200Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Leu224Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Leu240Phe
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu240Val
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Leu522Pro
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Lys119Met
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Lys150Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Lys440Asn
Likely pathogenic
Single submitter
Omenn syndrome
-
RAG2 p.Met22Thr
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Met443Ile
Pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Met443Thr
Likely pathogenic
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Met459Val
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
- RAG2 p.Phe183Leu Likely pathogenic Single submitter
-
RAG2 p.Phe318Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Phe62Leu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Phe62Val
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro163Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro305Leu
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro305Ser
Likely pathogenic
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Pro332Arg
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro377Leu
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro37Leu
Conflicting
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro37Ser
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Pro42Leu
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Pro432Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Pro432Leu
Conflicting
Single submitter
combined immunodeficiency with skin granulomas
- RAG2 p.Pro441Thr Likely pathogenic Single submitter
-
RAG2 p.Pro59Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Pro99Arg
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ser160Leu
Conflicting
Single submitter
Omenn syndrome
- RAG2 p.Ser205Cys Uncertain significance Single submitter
-
RAG2 p.Ser314Ile
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ser40Phe
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Ser40Tyr
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr121Ile
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr369Ala
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr376Asn
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Thr98Ala
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Thr98Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Trp172Cys
Uncertain significance
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Trp317Cys
Pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Trp317Leu
Likely pathogenic
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Trp453Arg
Pathogenic
Single submitter
severe combined immunodeficiency
-
RAG2 p.Trp453Gly
Likely pathogenic
Single submitter
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
-
RAG2 p.Tyr234His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAG2 p.Tyr277Cys
Uncertain significance
Single submitter
combined immunodeficiency with skin granulomas
-
RAG2 p.Tyr346Cys
Uncertain significance
Single submitter
Omenn syndrome
-
RAG2 p.Asp400Glu
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Glu370Gly
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Ile256Ser
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Pro180Ser
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Pro377Ser
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Pro42Ala
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Ser520Pro
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Tyr217His
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Val145Leu
Uncertain significance
No assertion criteria
Omenn syndrome
-
RAG2 p.Val272Phe
Uncertain significance
No assertion criteria
Omenn syndrome
All RAG2 variants
Pathogenic 45
- p.Arg229Gln Expert panel recombinase activating gene 2 deficiency ⚠
- p.Arg229Trp Expert panel recombinase activating gene 2 deficiency ⚠
- p.Arg39Gly Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly35Ala Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly44Ter Expert panel recombinase activating gene 2 deficiency
- p.Gly451Ala Expert panel recombinase activating gene 2 deficiency ⚠
- p.Tyr277fs Expert panel recombinase activating gene 2 deficiency
- p.Arg148Ter Multiple submitters combined immunodeficiency with skin granulomas
- p.Cys287fs Multiple submitters recombinase activating gene 2 deficiency
- p.Trp307Ter Multiple submitters Omenn syndrome
- p.Asn248fs Single submitter combined immunodeficiency with skin granulomas
- p.Asn288fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp450fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Cys350_Asp354delinsTer Single submitter combined immunodeficiency with skin granulomas
- p.Cys419Trp Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Cys423Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gln16fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu352Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu404Ter Single submitter combined immunodeficiency with skin granulomas
- p.Glu480Ter Single submitter Omenn syndrome
- p.Gly276Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly330fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly342Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly35fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly82fs Single submitter combined immunodeficiency with skin granulomas
- p.His481Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.His481Asp Single submitter combined immunodeficiency with skin granulomas
- p.Ile210Thr Single submitter common variable immunodeficiency ⚠
- p.Ile299fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile427fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu179fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys58fs Single submitter combined immunodeficiency with skin granulomas
- p.Lys64Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Met443Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Ser257fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr121fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr369fs Single submitter combined immunodeficiency with skin granulomas
- p.Thr98fs Single submitter combined immunodeficiency with skin granulomas
- p.Trp317Cys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Trp453Arg Single submitter severe combined immunodeficiency ⚠
- p.Tyr445Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Tyr91fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val120fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile273del No assertion criteria Severe combined immunodeficiency, B cell-negative
Pathogenic/Likely pathogenic 19
- p.Arg159Cys Multiple submitters severe combined immunodeficiency
- p.Arg229Pro Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg73His Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Asn213fs Multiple submitters Omenn syndrome
- p.Asp380_Ser381insTer Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Cys41Trp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu199Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly32Glu Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly35Val Multiple submitters RAG2-related disorder ⚠
- p.His468fs Multiple submitters combined immunodeficiency with skin granulomas
- p.Leu129fs Multiple submitters recombinase activating gene 2 deficiency
- p.Leu155Pro Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu184fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu242fs Multiple submitters combined immunodeficiency with skin granulomas
- p.Leu469fs Multiple submitters combined immunodeficiency with skin granulomas
- p.Phe378fs Multiple submitters Omenn syndrome
- p.Pro180His Multiple submitters Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
- p.Ser160Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Trp317Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Likely pathogenic 75
- p.Arg73Cys Expert panel recombinase activating gene 2 deficiency ⚠
- p.Asp65Tyr Expert panel recombinase activating gene 2 deficiency ⚠
- p.Cys446Trp Expert panel recombinase activating gene 2 deficiency
- p.Glu437Lys Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly319Ter Expert panel recombinase activating gene 2 deficiency
- p.Gly95Arg Expert panel recombinase activating gene 2 deficiency
- p.Ile444Met Expert panel recombinase activating gene 2 deficiency ⚠
- p.Leu466Phe Expert panel recombinase activating gene 2 deficiency ⚠
- p.Met1Ile Expert panel recombinase activating gene 2 deficiency
- p.Trp416Leu Expert panel recombinase activating gene 2 deficiency ⚠
- p.Arg229Leu Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg73Gly Multiple submitters combined immunodeficiency with skin granulomas
- p.Asn101Lys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn428fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.His140Arg Multiple submitters severe combined immunodeficiency
- p.Ile218Asn Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu348Ter Multiple submitters Omenn syndrome
- p.Met285Arg Multiple submitters recombinase activating gene 2 deficiency ⚠
- p.Met459Leu Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Pro305Ala Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Thr77Asn Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Trp172Ter Multiple submitters Omenn syndrome
- p.Trp430Ter Multiple submitters Omenn syndrome
- p.Ala456Thr Single submitter Omenn syndrome ⚠
- p.Arg159His Single submitter combined immunodeficiency with skin granulomas
- p.Asn101fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asn364fs Single submitter Omenn syndrome
- p.Cys41fs Single submitter Omenn syndrome
- p.Cys41Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Cys420Ter Single submitter Omenn syndrome
- p.Gln265fs Single submitter Omenn syndrome
- p.Gln265Ter Single submitter Omenn syndrome
- p.Gln457Ter Single submitter Omenn syndrome
- p.Gln4Ter Single submitter Salla disease
- p.Glu170Gly Single submitter Omenn syndrome ⚠
- p.Glu170Ter Single submitter Omenn syndrome
- p.Gly139fs Single submitter
- p.Gly157Ala Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly157Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly157Val Single submitter Omenn syndrome
- p.Gly203Arg Single submitter combined immunodeficiency with skin granulomas
- p.Gly203Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly325fs Single submitter Omenn syndrome
- p.Gly35Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly95Val Single submitter Omenn syndrome
- p.His140Tyr Single submitter combined immunodeficiency with skin granulomas
- p.Ile15fs Single submitter combined immunodeficiency with skin granulomas
- p.Ile228fs Single submitter combined immunodeficiency with skin granulomas
- p.Ile311fs Single submitter combined immunodeficiency with skin granulomas
- p.Ile444Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu14Ter Single submitter combined immunodeficiency with skin granulomas
- p.Lys119fs Single submitter combined immunodeficiency with skin granulomas
- p.Lys283fs Single submitter Omenn syndrome
- p.Lys440Asn Single submitter Omenn syndrome ⚠
- p.Met443Thr Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Phe183Leu Single submitter ⚠
- p.Phe318fs Single submitter combined immunodeficiency with skin granulomas
- p.Phe62Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro305Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro305Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Pro441Thr Single submitter ⚠
- p.Ser340Ter Single submitter Omenn syndrome
- p.Ser447Cys Single submitter Omenn syndrome ⚠
- p.Ser470Ter Single submitter
- p.Thr125fs Single submitter
- p.Thr250Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr361fs Single submitter Omenn syndrome
- p.Trp317fs Single submitter combined immunodeficiency with skin granulomas
- p.Trp317Leu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Trp453Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Tyr195Asp Single submitter recombinase activating gene 2 deficiency
- p.Tyr277Ter Single submitter combined immunodeficiency with skin granulomas
- p.Tyr346Ter Single submitter combined immunodeficiency with skin granulomas
- p.Val145fs Single submitter Omenn syndrome
- p.Val45fs Single submitter combined immunodeficiency with skin granulomas
Conflicting classifications of pathogenicity 24
- p.Ala442Thr Single submitter recombinase activating gene 2 deficiency ⚠
- p.Ala456Asp Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Arg123Cys Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Arg159= Single submitter Omenn syndrome
- p.Arg464His Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Arg506His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn173Ser Single submitter Omenn syndrome ⚠
- p.Asn403= Single submitter Omenn syndrome
- p.Cys478Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu358= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly342Glu Single submitter Inborn genetic diseases ⚠
- p.Gly95Glu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.His455= Single submitter combined immunodeficiency with skin granulomas
- p.His481Leu Single submitter Omenn syndrome ⚠
- p.His481Pro Single submitter inborn error of immunity ⚠
- p.Leu21= Single submitter Omenn syndrome
- p.Lys498Ter Single submitter combined immunodeficiency with skin granulomas
- p.Lys58= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Met162Ile Single submitter Inborn genetic diseases ⚠
- p.Met459Val Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Met502Val Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Pro37Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro432Leu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ser160Leu Single submitter Omenn syndrome ⚠
Benign 10
- p.Glu293Gly Expert panel recombinase activating gene 2 deficiency
- p.Phe386Leu Expert panel recombinase activating gene 2 deficiency ⚠
- p.Thr215Ile Expert panel recombinase activating gene 2 deficiency
- c.-137T>C Multiple submitters Omenn syndrome
- c.-27-1033G>A Multiple submitters
- c.*144G>T Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*183C>A Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*328A>G Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val247= Multiple submitters combined immunodeficiency with skin granulomas
- c.-27-313C>G Single submitter
Benign/Likely benign 1
- p.Ile316Met Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Likely benign 176
- p.Ser365= Expert panel recombinase activating gene 2 deficiency
- p.Val8Ile Expert panel recombinase activating gene 2 deficiency
- c.*52T>A Multiple submitters Omenn syndrome
- p.Ala176= Multiple submitters combined immunodeficiency with skin granulomas
- p.Asp397= Multiple submitters combined immunodeficiency with skin granulomas
- p.Gly139= Multiple submitters combined immunodeficiency with skin granulomas
- p.His481= Multiple submitters combined immunodeficiency with skin granulomas
- c.-27-47A>T Single submitter
- c.*227T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala13= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala192= Single submitter combined immunodeficiency with skin granulomas
- p.Ala211= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala225= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala388= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala442= Single submitter combined immunodeficiency with skin granulomas
- p.Ala456= Single submitter combined immunodeficiency with skin granulomas
- p.Ala471= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala487= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ala76= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg123= Single submitter combined immunodeficiency with skin granulomas
- p.Arg137= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg148= Single submitter combined immunodeficiency with skin granulomas
- p.Arg229= Single submitter combined immunodeficiency with skin granulomas
- p.Arg284= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg300His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg464= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Arg506= Single submitter combined immunodeficiency with skin granulomas
- p.Asn100= Single submitter combined immunodeficiency with skin granulomas
- p.Asn143= Single submitter combined immunodeficiency with skin granulomas
- p.Asn173= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asn227= Single submitter combined immunodeficiency with skin granulomas
- p.Asn232= Single submitter combined immunodeficiency with skin granulomas
- p.Asn288= Single submitter combined immunodeficiency with skin granulomas
- p.Asn335= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asn356= Single submitter combined immunodeficiency with skin granulomas
- p.Asn428= Single submitter combined immunodeficiency with skin granulomas
- p.Asp132= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp186= Single submitter combined immunodeficiency with skin granulomas
- p.Asp214= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp25= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp294= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp310= Single submitter combined immunodeficiency with skin granulomas
- p.Asp354= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp380= Single submitter combined immunodeficiency with skin granulomas
- p.Asp405= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp409= Single submitter combined immunodeficiency with skin granulomas
- p.Asp65= Single submitter combined immunodeficiency with skin granulomas
- p.Cys181= Single submitter combined immunodeficiency with skin granulomas
- p.Cys249= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Cys287= Single submitter combined immunodeficiency with skin granulomas
- p.Cys41= Single submitter combined immunodeficiency with skin granulomas
- p.Cys423= Single submitter combined immunodeficiency with skin granulomas
- p.Cys446= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gln90= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu102= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu170= Single submitter combined immunodeficiency with skin granulomas
- p.Glu188= Single submitter combined immunodeficiency with skin granulomas
- p.Glu303= Single submitter combined immunodeficiency with skin granulomas
- p.Glu383= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu404= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu407= Single submitter combined immunodeficiency with skin granulomas
- p.Glu410= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu412= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Glu463= Single submitter combined immunodeficiency with skin granulomas
- p.Glu483= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly131= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly149= Single submitter combined immunodeficiency with skin granulomas
- p.Gly153= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly373= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly414= Single submitter combined immunodeficiency with skin granulomas
- p.Gly449= Single submitter combined immunodeficiency with skin granulomas
- p.Gly509= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly511= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly96= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.His222= Single submitter combined immunodeficiency with skin granulomas
- p.His448= Single submitter combined immunodeficiency with skin granulomas
- p.His468= Single submitter combined immunodeficiency with skin granulomas
- p.His47= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.His54= Single submitter combined immunodeficiency with skin granulomas
- p.Ile107= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile112= Single submitter combined immunodeficiency with skin granulomas
- p.Ile112Val Single submitter combined immunodeficiency with skin granulomas
- p.Ile216= Single submitter combined immunodeficiency with skin granulomas
- p.Ile228= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile262= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile290= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile316= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile417= Single submitter combined immunodeficiency with skin granulomas
- p.Ile444= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ile92= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu179= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu224= Single submitter combined immunodeficiency with skin granulomas
- p.Leu242= Single submitter combined immunodeficiency with skin granulomas
- p.Leu252= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu263= Single submitter combined immunodeficiency with skin granulomas
- p.Leu3= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu329= Single submitter combined immunodeficiency with skin granulomas
- p.Leu461= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu469= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu495= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu497= Single submitter combined immunodeficiency with skin granulomas
- p.Leu505= Single submitter combined immunodeficiency with skin granulomas
- p.Leu522= Single submitter combined immunodeficiency with skin granulomas
- p.Leu525= Single submitter combined immunodeficiency with skin granulomas
- p.Leu69= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu84= Single submitter
- p.Lys171= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys312= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys38= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys499= Single submitter combined immunodeficiency with skin granulomas
- p.Lys51= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys81= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Lys88= Single submitter combined immunodeficiency with skin granulomas
- p.Phe24= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Phe343= Single submitter combined immunodeficiency with skin granulomas
- p.Phe345= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Phe386= Single submitter combined immunodeficiency with skin granulomas
- p.Phe46= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro163= Single submitter combined immunodeficiency with skin granulomas
- p.Pro17= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro241= Single submitter combined immunodeficiency with skin granulomas
- p.Pro253= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro305= Single submitter combined immunodeficiency with skin granulomas
- p.Pro332= Single submitter combined immunodeficiency with skin granulomas
- p.Pro37= Single submitter combined immunodeficiency with skin granulomas
- p.Pro377= Single submitter combined immunodeficiency with skin granulomas
- p.Pro42= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro441= Single submitter combined immunodeficiency with skin granulomas
- p.Pro491= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro496= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro71= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ser104= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ser160= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ser20= Single submitter combined immunodeficiency with skin granulomas
- p.Ser257= Single submitter combined immunodeficiency with skin granulomas
- p.Ser260= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ser291= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Ser340= Single submitter combined immunodeficiency with skin granulomas
- p.Ser520= Single submitter combined immunodeficiency with skin granulomas
- p.Ser86= Single submitter combined immunodeficiency with skin granulomas
- p.Thr125= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr169= Single submitter combined immunodeficiency with skin granulomas
- p.Thr193= Single submitter combined immunodeficiency with skin granulomas
- p.Thr250= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr308= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr361= Single submitter combined immunodeficiency with skin granulomas
- p.Thr43= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr436= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr465= Single submitter combined immunodeficiency with skin granulomas
- p.Thr490= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr515= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr60= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr60Ala Single submitter Inborn genetic diseases
- p.Thr7= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Thr77= Single submitter combined immunodeficiency with skin granulomas
- p.Thr79= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Tyr146= Single submitter combined immunodeficiency with skin granulomas
- p.Tyr161= Single submitter combined immunodeficiency with skin granulomas
- p.Tyr195= Single submitter combined immunodeficiency with skin granulomas
- p.Tyr217= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Tyr346= Single submitter combined immunodeficiency with skin granulomas
- p.Tyr415= Single submitter combined immunodeficiency with skin granulomas
- p.Tyr477= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Tyr91= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val109= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val145= Single submitter combined immunodeficiency with skin granulomas
- p.Val175= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val208= Single submitter combined immunodeficiency with skin granulomas
- p.Val238= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val251= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val272Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val274= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val28= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Val454= Single submitter combined immunodeficiency with skin granulomas
- p.Val55= Single submitter combined immunodeficiency with skin granulomas
- p.Val8= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Uncertain significance 252
- p.Arg167Ser Expert panel recombinase activating gene 2 deficiency ⚠
- p.Asn101Ser Expert panel recombinase activating gene 2 deficiency ⚠
- p.Asn23Ser Expert panel recombinase activating gene 2 deficiency ⚠
- p.Asn474Ser Expert panel recombinase activating gene 2 deficiency ⚠
- p.Asp25Gly Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gln16His Expert panel recombinase activating gene 2 deficiency ⚠
- p.Glu303Asp Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly18Val Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly26Ala Expert panel recombinase activating gene 2 deficiency ⚠
- p.Gly32Val Expert panel recombinase activating gene 2 deficiency ⚠
- p.Ile12Thr Expert panel recombinase activating gene 2 deficiency ⚠
- p.Met110Leu Expert panel recombinase activating gene 2 deficiency ⚠
- p.Met1Thr Expert panel recombinase activating gene 2 deficiency
- p.Met1Val Expert panel recombinase activating gene 2 deficiency
- p.Met5Leu Expert panel recombinase activating gene 2 deficiency ⚠
- p.Met5Lys Expert panel recombinase activating gene 2 deficiency ⚠
- p.Ser9Gly Expert panel recombinase activating gene 2 deficiency ⚠
- p.Thr7Ala Expert panel recombinase activating gene 2 deficiency ⚠
- p.Ala462Thr Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg123His Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg300Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg506Cys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn268Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn364Lys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn53His Multiple submitters Inborn genetic diseases ⚠
- p.Asp380Tyr Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Asp396Gly Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asp397del Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Asp400His Multiple submitters Omenn syndrome ⚠
- p.Cys181Arg Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Gln90Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu270Gly Multiple submitters RAG2-related disorder ⚠
- p.Glu303Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu483Lys Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Gly373Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly509Val Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.His468Arg Multiple submitters Inborn genetic diseases ⚠
- p.His47Gln Multiple submitters Omenn syndrome ⚠
- p.Pro245Ser Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Thr418Ile Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr515Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr402Cys Multiple submitters combined immunodeficiency with skin granulomas ⚠
- p.Val144Ala Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Val45Ile Multiple submitters Inborn genetic diseases ⚠
- c.-146G>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.-151A>C Single submitter Omenn syndrome
- c.*136A>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*33G>T Single submitter Omenn syndrome
- c.*348C>G Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*522C>G Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*582T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- c.*90T>G Single submitter Omenn syndrome
- p.Ala136Val Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ala388Glu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ala462Gly Single submitter Inborn genetic diseases ⚠
- p.Arg137Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg148Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg237Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Arg284Ile Single submitter Inborn genetic diseases ⚠
- p.Arg39Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg464Cys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg464Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg493Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Arg73Pro Single submitter ⚠
- p.Asn226Ser Single submitter Omenn syndrome ⚠
- p.Asn232Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn248Lys Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Asn268His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn281Lys Single submitter combined immunodeficiency with skin granulomas
- p.Asn288Asp Single submitter Omenn syndrome
- p.Asn295Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Asn324Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Asn428His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asn428Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asp132Gly Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Asp306Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asp354Asn Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Asp374His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Asp380Gly Single submitter ⚠
- p.Asp397Gly Single submitter Inborn genetic diseases ⚠
- p.Asp400Val Single submitter Inborn genetic diseases ⚠
- p.Asp527Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Cys178Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Cys446Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Cys67Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gln27Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gln282Lys Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gln359Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gln366Glu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gln492Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Glu126Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu188Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu188Lys Single submitter Inborn genetic diseases ⚠
- p.Glu301Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu303Lys Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Glu341Asp Single submitter Inborn genetic diseases ⚠
- p.Glu382Gly Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Glu383Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Glu408del Single submitter combined immunodeficiency with skin granulomas
- p.Glu410Gln Single submitter ⚠
- p.Glu412Gln Single submitter Inborn genetic diseases ⚠
- p.Glu85Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly149Glu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly153Asp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly153Ser Single submitter Inborn genetic diseases ⚠
- p.Gly158Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly190Val Single submitter Inborn genetic diseases ⚠
- p.Gly254Glu Single submitter Inborn genetic diseases ⚠
- p.Gly255Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly255Val Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly333Glu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly395Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly414Asn Single submitter combined immunodeficiency with skin granulomas
- p.Gly449Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly44Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Gly44Glu Single submitter Inborn genetic diseases ⚠
- p.Gly472Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Gly511fs Single submitter combined immunodeficiency with skin granulomas
- p.Gly511Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Gly96Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.His166Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.His207Gln Single submitter Omenn syndrome ⚠
- p.His207Tyr Single submitter Inborn genetic diseases ⚠
- p.His47Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.His489Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.His52Arg Single submitter Inborn genetic diseases ⚠
- p.His52Gln Single submitter combined immunodeficiency with skin granulomas ⚠
- p.His54Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.His89Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Ile210Phe Single submitter Inborn genetic diseases ⚠
- p.Ile216Asn Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ile228Phe Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ile256Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Ile273Val Single submitter Inborn genetic diseases ⚠
- p.Ile311Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Ile311Val Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ile331Thr Single submitter Inborn genetic diseases ⚠
- p.Ile92Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu155His Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Leu200Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Leu224Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Leu240Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu240Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu240Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu329Ile Single submitter Inborn genetic diseases ⚠
- p.Leu514Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu522Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Leu522Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Lys118Arg Single submitter ⚠
- p.Lys119Met Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Lys150Asn Single submitter Inborn genetic diseases ⚠
- p.Lys336Glu Single submitter
- p.Lys349Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Lys440Arg Single submitter Inborn genetic diseases ⚠
- p.Lys81Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Met110Lys Single submitter Omenn syndrome ⚠
- p.Met110Val Single submitter Omenn syndrome ⚠
- p.Met152Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Met162Val Single submitter ⚠
- p.Met22Thr Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Met302Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Met322Val Single submitter Inborn genetic diseases ⚠
- p.Met347Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Phe318Ser Single submitter Inborn genetic diseases ⚠
- p.Phe328Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Phe362Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Phe399Ser Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Phe62Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Phe80Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Pro163Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro17Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Pro241Leu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Pro253Arg Single submitter Omenn syndrome ⚠
- p.Pro309Leu Single submitter Inborn genetic diseases ⚠
- p.Pro332Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro377Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro37Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro42Leu Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Pro432Arg Single submitter Inborn genetic diseases ⚠
- p.Pro496Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro501Ala Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro516Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Pro59Arg Single submitter Inborn genetic diseases ⚠
- p.Pro99Arg Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ser205Cys Single submitter ⚠
- p.Ser259Phe Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ser314Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ser387Gly Single submitter Inborn genetic diseases ⚠
- p.Ser40Phe Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Ser40Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Ser473Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr121Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr125Ala Single submitter Inborn genetic diseases ⚠
- p.Thr215Asn Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr304Ile Single submitter Omenn syndrome ⚠
- p.Thr326Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Thr360Ala Single submitter Inborn genetic diseases ⚠
- p.Thr361Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Thr369Ala Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr376Asn Single submitter Omenn syndrome ⚠
- p.Thr376Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr79Ile Single submitter Inborn genetic diseases ⚠
- p.Thr98Ala Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Thr98Ile Single submitter Inborn genetic diseases ⚠
- p.Trp172Cys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Trp307Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr195His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Tyr234His Single submitter Inborn genetic diseases ⚠
- p.Tyr277Cys Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Tyr346Cys Single submitter Omenn syndrome ⚠
- p.Val109Asp Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Val145Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Val154Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Val247Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Val251Ala Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Val258Ile Single submitter combined immunodeficiency with skin granulomas ⚠
- p.Val272Leu Single submitter Inborn genetic diseases ⚠
- p.Val482Met Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- p.Val50Ile Single submitter Inborn genetic diseases ⚠
- p.Val6Ile Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
- c.-27-1G>A No assertion criteria Omenn syndrome
- c.*4T>C No assertion criteria Omenn syndrome
- p.Ala487Pro No assertion criteria Omenn syndrome ⚠
- p.Arg167= No assertion criteria Omenn syndrome
- p.Asn226Asp No assertion criteria Omenn syndrome ⚠
- p.Asn23Lys No assertion criteria Omenn syndrome
- p.Asn281Ser No assertion criteria Omenn syndrome ⚠
- p.Asn479Ser No assertion criteria Omenn syndrome ⚠
- p.Asp306Gly No assertion criteria Omenn syndrome ⚠
- p.Asp396Asn No assertion criteria Omenn syndrome ⚠
- p.Asp397Glu No assertion criteria Omenn syndrome ⚠
- p.Asp400Glu No assertion criteria Omenn syndrome ⚠
- p.Glu352Asp No assertion criteria Omenn syndrome ⚠
- p.Glu370Gly No assertion criteria Omenn syndrome ⚠
- p.Gly342= No assertion criteria Omenn syndrome
- p.Ile112Thr No assertion criteria Omenn syndrome ⚠
- p.Ile256Ser No assertion criteria Omenn syndrome ⚠
- p.Leu279Pro No assertion criteria severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- p.Leu329Arg No assertion criteria Omenn syndrome ⚠
- p.Leu3Pro No assertion criteria Omenn syndrome ⚠
- p.Pro180Ser No assertion criteria Omenn syndrome ⚠
- p.Pro377Ser No assertion criteria Omenn syndrome ⚠
- p.Pro42Ala No assertion criteria Omenn syndrome ⚠
- p.Pro70= No assertion criteria Omenn syndrome
- p.Ser164Phe No assertion criteria Omenn syndrome ⚠
- p.Ser520Pro No assertion criteria Omenn syndrome ⚠
- p.Thr304= No assertion criteria Omenn syndrome
- p.Thr326= No assertion criteria Omenn syndrome
- p.Tyr217His No assertion criteria Omenn syndrome ⚠
- p.Val145Leu No assertion criteria Omenn syndrome ⚠
- p.Val272Phe No assertion criteria Omenn syndrome ⚠
- p.Val425Met No assertion criteria Omenn syndrome ⚠