Sugi Variant

Sugi Variant/JAK3

JAK3 — 1331 ClinVar variants

All ClinVar germline JAK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 321 flagged for review →

75 Pathogenic · 10 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 43 Conflicting · 97 Benign · 16 Benign/Likely benign · 653 Likely benign · 390 Uncertain significance

Full JAK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 321

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 6

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

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 236

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 236

Predictors split 68

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

All JAK3 variants

Pathogenic 75

  • p.Arg445Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg451Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg613Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg771Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp784Asn Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Cys227fs Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Cys565Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg103His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg478fs Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg549Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg775His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln305Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu462fs Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser1029fs Multiple submitters severe combined immunodeficiency
  • p.Ser340Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser394fs Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Thr714Met Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Tyr904Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+1G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1254+2T>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-1G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+2T>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+3G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+2T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala677fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg175Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg222fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg840_Tyr841insTer Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp241fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp324fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp776delinsHisSerTer Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Cys1024Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Cys428Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln203Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln630Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln758Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln807Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln858Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu1019fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu183fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu285Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu997Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly313fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly34fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly397Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly427fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu30fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu389fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu471fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu754_Leu755insTer Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu851fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys304fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys563fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys748fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys748Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys978fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Phe1004del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Phe43fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser826Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Thr435fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp1011Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp523Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp623Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp716Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp803Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp81fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Trp993Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Tyr633Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Tyr929Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala58del No assertion criteria T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys563_Cys565del No assertion criteria NK-cell enteropathy
  • p.Tyr100Cys No assertion criteria T-B+ severe combined immunodeficiency due to JAK3 deficiency

Pathogenic/Likely pathogenic 10

  • c.2680+3G>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-1G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg103Cys Multiple submitters severe combined immunodeficiency ⚠
  • p.Arg651Trp Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg920fs Multiple submitters severe combined immunodeficiency
  • p.Gln39fs Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln915Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.His492fs Multiple submitters JAK3-related disorder
  • p.Tyr939Ter Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val320fs Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency

Likely pathogenic 47

  • c.1701+1G>A Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+89G>A Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-2A>G Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg350Trp Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg403His Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg582Trp Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Cys193Tyr Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly589Ser Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu638= Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Lys59Ter Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-2A>G Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+2T>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg402His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp144Val Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-1G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1441+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+1G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+2_1786+5del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1914+1G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1915-11G>A Single submitter severe combined immunodeficiency
  • c.2350+1G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-2A>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2978+1G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+1G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.420+2T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg101Gly Single submitter
  • p.Arg142Cys Single submitter ⚠
  • p.Arg895fs Single submitter severe combined immunodeficiency
  • p.Asn832fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp77fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln503Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln578Ter Single submitter Susceptibility to severe COVID-19
  • p.Glu1019Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu176fs Single submitter
  • p.Glu958Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly528Asp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His645fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile430Thr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu156fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu369Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu875His Single submitter ⚠
  • p.Leu900fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Tyr399Ter Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val553fs Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val884= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency

Conflicting classifications of pathogenicity 43

  • c.1786+13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2047+5G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+7G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+15G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-11G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-9C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-7C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+6_566+41del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1931del Single submitter
  • c.*73T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala699= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala699Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala797= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala919Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg395His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg403Cys Single submitter severe combined immunodeficiency ⚠
  • p.Arg40His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu1072Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu786= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly36= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly589= Single submitter severe combined immunodeficiency
  • p.Gly845= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.His1071= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.His232= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile688Phe Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu1035fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • p.Leu527= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu643= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu73Arg Single submitter ⚠
  • p.Leu752= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Met610Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe358Tyr Single submitter Inborn genetic diseases ⚠
  • p.Pro38= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro517= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro693= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro84= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro893= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser1089= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser61= Single submitter Inborn genetic diseases
  • p.Ser890Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ser924= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Thr551= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency

Benign 97

Benign/Likely benign 16

  • c.1914+10C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1915-20C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-20C>G Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2978+15C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+16dup Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg211= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asn954= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gln630= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.His377= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile516= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu485= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Phe817= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro665= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro745= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser1100= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser340= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency

Likely benign 653

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Arg121His Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg925Ser Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly313Glu Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.His879Arg Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile1003Val Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile63Val Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro396Leu Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val217Met Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val718Leu Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-79A>G Multiple submitters
  • c.1441+19T>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+14A>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+19C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+6A>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-84C>T Multiple submitters
  • c.2047+15G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+17C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+14C>G Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-14C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+9G>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+71C>T Multiple submitters
  • c.2978+110C>T Multiple submitters
  • c.2978+88G>T Multiple submitters
  • c.2978+9C>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-9G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-16T>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.985-15G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.-26C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*299C>T Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala772= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg222His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg657= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp545= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly422= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly721= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu163= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu429= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu584= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu973= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Phe711= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro247= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro495= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro843= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser1122= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser580= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser835= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ser907= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Tyr425= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Tyr633= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Val97= Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+10T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+14C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1142+16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-10T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-14A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-19C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-5C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1143-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1254+12G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1254+18G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1254+9A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-12T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-18G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-19G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1255-4G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1441+131T>C Single submitter
  • c.1441+15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1441+16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1441+17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-10C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-14T>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-16C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-17T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-18C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-6C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-7C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1442-9T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+11_1569+13del Single submitter
  • c.1569+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+14G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+15G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+15G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+19T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1569+8G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-10C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-13C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-14C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-17del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-20G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1570-5T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+11T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+19A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+7G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-12C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-15T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-16T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-4C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1702-9C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+20C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+7G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+7G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+7G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+8C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1786+9C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-15C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-19T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-20C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1787-4C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+10T>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+11C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+17T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+18G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+19G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+9A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.185-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.185-15G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.185-15G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1914+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1914+13C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1914+17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1914+77G>C Single submitter
  • c.1915-10G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1915-17G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1915-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1915-7C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2047+19A>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2047+20G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2048-18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2048-19C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2048-19C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2048-4T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2048-9T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+10C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+14A>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+18G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+20C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+8C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+9C>G Single submitter
  • c.2199+9C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-12T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-14C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-17G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-5dup Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2200-8A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+12G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+12G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+14C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+15G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+16G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+17G>T Single submitter
  • c.2350+18T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-15A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-19G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-58C>G Single submitter
  • c.2351-5C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-7A>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2351-8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+14G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+15G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+17C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-12G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-16T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-4C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-8T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+14C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+19G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+8A>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2680+9G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-12T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-20A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-4C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2681-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+12C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+5G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+7G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+7G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+9G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-12G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-12G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-14CCGC[4] Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-18C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-19T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-4G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-5C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-8G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2978+10_2978+11del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2978+11del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2978+12G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2979-16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2979-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2979-8_2979-6dup Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2979-8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+18G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+19C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+8G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-11T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-17C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-19T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-20G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-7C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-7dup Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.309-8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+10C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+15C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+19G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+19G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+20C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+20C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+20C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+8G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+8G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+9G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3097-12C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3097-15C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3097-17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3097-18G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3097-19C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3207+10G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3207+17dup Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3207+73G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3207+9C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3207+9C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-10C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-12C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-13C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-16G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-74C>T Single submitter
  • c.3208-7C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3208-9G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-11C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-16del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-19C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-4_421-3del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-7C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-9del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-9G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+11C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+13A>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+15G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+16C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+19T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+20G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.566+73G>A Single submitter
  • c.567-15C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-16C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-17C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-18C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-6C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-7C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-8C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.567-9C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.861+10G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.861+18C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.861+19G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.861+9G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-11C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-12C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-13C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-13C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-15C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-17C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-18A>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-5C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.862-8C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency

Uncertain significance 390

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1915-1G>A Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg117Cys Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg775Cys Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Pro764Leu Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val146Gly Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val299Ala Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val599Gly Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val773Ile Expert panel T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • c.1701+5G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.184+5G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2490+4A>C Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2805+4C>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2806-14C>G Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.861+6G>A Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala178Thr Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala229Val Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala560Thr Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala797Val Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala877Val Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg1085Gln Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg1085Trp Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg121Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg218Leu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg223His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg33Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg540Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg549Gln Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg741Gln Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg799Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg840Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg870Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg887His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg916Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg918Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg925Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asn778Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln501His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln827Glu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln865Glu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu176Asp Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu370Lys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu818Lys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly160Cys Multiple submitters Inborn genetic diseases
  • p.Gly460Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly712Ser Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly861Arg Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His27Gln Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His529Arg Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His562Tyr Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile279Phe Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile476Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile825Met Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile872Thr Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu1073Phe Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu262Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu344Ile Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu421Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu521Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu654Pro Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Met558Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met598Ile Multiple submitters Inborn genetic diseases
  • p.Met760Ile Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Met902Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe358Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Phe359del Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Phe602Ser Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Pro1067Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1114Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro12Leu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Pro311Leu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Pro893Leu Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Pro906Ser Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ser835Cys Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Thr253Ala Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Thr381Asn Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Thr8Met Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Tyr1023His Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val309Ala Multiple submitters T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Val90Met Multiple submitters Inborn genetic diseases ⚠
  • c.1254+4G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1254+5G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.1701+6A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2199+4A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2350+2dup Single submitter
  • c.2350+5C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.2491-3C>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.308+5del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.3096+3G>A Single submitter
  • c.420+3G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.421-10G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.-105G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.-19C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.-3C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.-54C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1014C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1094G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1218C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1264G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1287A>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*137G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1398G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1509G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1522C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1523C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1531T>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1661T>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1752A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1778A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1787C>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1833G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*1835G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*204G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*271G>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*306G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*371C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*403C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*404G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*422C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*501C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*503G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*507A>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*593C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*607G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*653T>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*771C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*841_*842dup Single submitter
  • c.*847C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*899A>G Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*943G>C Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*974G>A Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • c.*985C>T Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala1032Thr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala1090Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala171Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala174Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala220Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala248Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala250Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala274Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala280Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala2Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala2Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala306Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala373Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala385Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala385Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala468Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala560Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala560Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala573Pro Single submitter ⚠
  • p.Ala58Thr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala677Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala677Thr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala699Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala746Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala746Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala74Val Single submitter ⚠
  • p.Ala753Asp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ala919Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ala952Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg1049Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg1103Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg117His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg121Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg142Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg149Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg149Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg14His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg175Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg180_Pro181del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg210Trp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg211Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg211Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg308Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg316His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg322Gly Single submitter ⚠
  • p.Arg33Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg431Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg431Trp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg432His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg445Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg478Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg537Trp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg582Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg657Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg657Trp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg697Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg799His Single submitter Inborn genetic diseases ⚠
  • p.Arg840His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg840Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Arg870Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg870Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg870Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg887Cys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Arg948Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asn1002del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asn108Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asn636Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asn832Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp1025Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp123Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp169Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp200Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp276Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp300Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp324Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp324Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp47Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp52Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp545His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp740Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp846Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Asp912Tyr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp922Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp922His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Asp979Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Cys360Phe Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Cys591Tyr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln1094fs Single submitter
  • p.Gln290His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln305His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln326Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln39Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln418Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln505Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln507Pro Single submitter ⚠
  • p.Gln510Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln510Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln626His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln873His Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gln988= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu1055Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu1069= Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Glu1072Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu1106Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu161Ala Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu176Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu287Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu314Gly Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu362Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu374Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu374Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu547Lys Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Glu567= Single submitter
  • p.Glu694Lys Single submitter ⚠
  • p.Gly1039Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly1092Asp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly1092Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly119Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly160Val Single submitter Inborn genetic diseases ⚠
  • p.Gly182Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly204Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly24Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly269Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly269Glu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly277Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly284Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly36Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly427Val Single submitter Inborn genetic diseases ⚠
  • p.Gly46Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Gly491Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly62Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly642Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly642Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Gly794Asp Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His1113Tyr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His1119Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His315Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His447Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His463Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His463Leu Single submitter Inborn genetic diseases ⚠
  • p.His541Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His588Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His645Tyr Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.His917Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile213Leu Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile516Asn Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile516Phe Single submitter Inborn genetic diseases
  • p.Ile608Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Ile667del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Ile726Ser Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu1035Gln Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu1054Met Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu1054Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu10Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu258del Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency
  • p.Leu328Ile Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu368Val Single submitter Inborn genetic diseases ⚠
  • p.Leu439Phe Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu454Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu638Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu702Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu73Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu754Pro Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu788Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu808Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu844Val Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu898Arg Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu921Phe Single submitter T-B+ severe combined immunodeficiency due to JAK3 deficiency ⚠
  • p.Leu928Phe Single submitter Inborn genetic diseases ⚠