Sugi Variant

Sugi Variant/STAT3

STAT3 — 875 ClinVar variants

All ClinVar germline STAT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 267 flagged for review →

43 Pathogenic · 12 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 43 Conflicting · 84 Benign · 22 Benign/Likely benign · 314 Likely benign · 308 Uncertain significance

Full STAT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 267

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

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

Predictors agree, ClinVar conflicts 15

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

Predicted LoF vs a conflicting call 3

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

Predictors lean, ClinVar uncertain 127

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

Predictors split 119

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

All STAT3 variants

Pathogenic 43

  • p.Arg152Trp Multiple submitters STAT3-related disorder ⚠
  • p.Arg382Gln Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg382Trp Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg423Gln Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asn466Ser Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Thr716Met Multiple submitters STAT3-related disorder ⚠
  • p.Val463del Multiple submitters STAT3 gain of function
  • p.Val637Met Multiple submitters STAT3 gain of function
  • c.1110-2A>G Single submitter STAT3 gain of function
  • p.Ala703Thr Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Arg278His Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg382Pro Single submitter STAT3 gain of function
  • p.Asn420Lys Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Gln344His Single submitter STAT3-related early-onset multisystem autoimmune disease
  • p.His410Tyr Single submitter STAT3 gain of function
  • p.His437Gln Single submitter STAT3 gain of function
  • p.His437Tyr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu645Gln Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu706Met Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met329Lys Single submitter STAT3 gain of function
  • p.Met394Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Pro330Ser Single submitter
  • p.Pro639Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro639Ser Single submitter STAT3-related disorder
  • p.Pro639Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser636Phe Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser636Tyr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr620Ser Single submitter STAT3 gain of function
  • p.Thr622Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr663Ile Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Thr714Ile Single submitter STAT3 gain of function ⚠
  • p.Trp562Ter Single submitter STAT3-related disorder
  • p.Val353Phe Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Val713Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg382Leu No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn646Lys No assertion criteria STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Gly618Asp No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Lys392Arg No assertion criteria STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Lys658Asn No assertion criteria STAT3-related early-onset multisystem autoimmune disease
  • p.Met329Val No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr389Ile No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr620Ala No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val637Ala No assertion criteria hyper-IgE recurrent infection syndrome 1, autosomal dominant

Pathogenic/Likely pathogenic 12

  • p.Arg335Trp Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn466Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu415Lys Multiple submitters STAT3-related early-onset multisystem autoimmune disease
  • p.Gly421Arg Multiple submitters STAT3-related disorder ⚠
  • p.His332Leu Multiple submitters Inborn genetic diseases
  • p.His332Tyr Multiple submitters STAT3-related disorder ⚠
  • p.Ile659Asn Multiple submitters STAT3 gain of function
  • p.Leu706Pro Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met660Thr Multiple submitters STAT3 gain of function ⚠
  • p.Phe621Leu Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro715Leu Multiple submitters Inherited Immunodeficiency Diseases ⚠
  • p.Tyr657Cys Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant

Likely pathogenic 49

  • p.Arg278Cys Multiple submitters STAT3 gain of function
  • p.Glu594Lys Multiple submitters STAT3 gain of function
  • p.Ile711Val Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Lys709Glu Multiple submitters STAT3 gain of function ⚠
  • p.Phe621Ser Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr389Ala Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • c.1110-1G>A Single submitter
  • c.551-1G>A Single submitter STAT3-related disorder
  • p.Arg103Trp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg518Ter Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn466Asp Single submitter STAT3-related disorder
  • p.Asn472Asp Single submitter
  • p.Asn567Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Cys712Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu307fs Single submitter
  • p.Glu582Lys Single submitter
  • p.Glu616Gln Single submitter
  • p.Gly419Arg Single submitter ⚠
  • p.Gly421Val Single submitter ⚠
  • p.His437Leu Single submitter STAT3-related early-onset multisystem autoimmune disease
  • p.Ile711Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Leu287Phe Single submitter STAT3 gain of function ⚠
  • p.Lys340Glu Single submitter STAT3-related disorder
  • p.Lys615_Gly617delinsGluArg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Lys615Glu Single submitter STAT3-related disorder
  • p.Lys642Glu Single submitter STAT3 gain of function
  • p.Met331Arg Single submitter ⚠
  • p.Met394Ile Single submitter STAT3 gain of function
  • p.Met648Lys Single submitter ⚠
  • p.Met660Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Phe408Leu Single submitter STAT3-related disorder
  • p.Phe621Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro639Arg Single submitter STAT3-related disorder
  • p.Pro639Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro715Gln Single submitter STAT3-related disorder ⚠
  • p.Thr341Ile Single submitter
  • p.Thr412Ile Single submitter
  • p.Thr708Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Thr714Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Thr714Lys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Trp623Leu Single submitter
  • p.Tyr360His Single submitter ⚠
  • p.Tyr657Gln Single submitter
  • p.Tyr705Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Tyr705His Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Val393Leu Single submitter
  • p.Val637Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val713Met Single submitter STAT3-related disorder ⚠
  • p.Lys658Arg No assertion criteria STAT3-related early-onset multisystem autoimmune disease ⚠

Conflicting classifications of pathogenicity 43

  • c.1110-3C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1139+1G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • c.1233+19C>T Single submitter STAT3 gain of function
  • c.1600+5G>A Single submitter STAT3 gain of function
  • c.1601-72_1601-71del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2144+1G>A Single submitter STAT3 gain of function ⚠
  • c.274-3T>C Single submitter STAT3 gain of function
  • c.551-1G>C Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • c.645+16G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-140C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-195G>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala473Val Single submitter ⚠
  • p.Ala766Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg13Gln Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg335Gln Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asn5Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gln125Glu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu100= Single submitter STAT3 gain of function
  • p.Glu159Lys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly402Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly618Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly741= Single submitter STAT3 gain of function
  • p.Gly743Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.His694Gln Single submitter STAT3 gain of function ⚠
  • p.Leu454Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Leu666Pro Single submitter STAT3-related disorder ⚠
  • p.Leu734= Single submitter STAT3-related disorder
  • p.Lys290Asn Single submitter Inherited Immunodeficiency Diseases ⚠
  • p.Lys318Glu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Lys591Met Single submitter STAT3 gain of function ⚠
  • p.Lys707Glu Single submitter Inherited Immunodeficiency Diseases ⚠
  • p.Met28Val Single submitter STAT3-related disorder ⚠
  • p.Met329Arg Single submitter Inherited Immunodeficiency Diseases ⚠
  • p.Phe683= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser476= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser614Gly Single submitter STAT3 gain of function ⚠
  • p.Ser629= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser701= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr412Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr620Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Tyr640Phe Single submitter STAT3 gain of function ⚠
  • p.Val375Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Val563Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠

Benign 84

  • c.1109+24G>T Multiple submitters
  • c.1109+87G>A Multiple submitters
  • c.1233+43C>G Multiple submitters STAT3-related early-onset multisystem autoimmune disease
  • c.128+142G>T Multiple submitters
  • c.1282-93C>T Multiple submitters
  • c.1464+35A>T Multiple submitters
  • c.1465-16G>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+62G>C Multiple submitters
  • c.1601-10dup Multiple submitters STAT3-related early-onset multisystem autoimmune disease
  • c.1654-11C>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1888+142C>G Multiple submitters
  • c.2144+20C>T Multiple submitters STAT3 gain of function
  • c.2257+318C>T Multiple submitters
  • c.2258-181C>A Multiple submitters
  • c.274-153G>A Multiple submitters
  • c.274-160G>C Multiple submitters
  • c.274-164C>G Multiple submitters
  • c.274-165C>T Multiple submitters
  • c.551-137_551-18del Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-44A>C Multiple submitters
  • c.551-64A>C Multiple submitters
  • c.645+40C>G Multiple submitters
  • c.*1325A>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1671C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1853A>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*2147A>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp237= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly618= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val461Leu Multiple submitters STAT3 gain of function
  • c.1049+452C>A Single submitter STAT3 gain of function
  • c.1050-13dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-8del Single submitter STAT3 gain of function
  • c.1281+258T>A Single submitter
  • c.1281+33del Single submitter
  • c.1282-162T>A Single submitter
  • c.1282-21G>A Single submitter
  • c.1282-253C>T Single submitter
  • c.129-213A>G Single submitter
  • c.129-250G>A Single submitter
  • c.1600+162G>A Single submitter
  • c.1600+191G>A Single submitter
  • c.1888+158T>C Single submitter
  • c.2145-12dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.273+314A>G Single submitter
  • c.274-234_274-232dup Single submitter
  • c.274-234_274-233dup Single submitter
  • c.274-234dup Single submitter
  • c.372+147dup Single submitter
  • c.373-253G>C Single submitter
  • c.373-6dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+197C>T Single submitter
  • c.468+201C>T Single submitter
  • c.468+42dup Single submitter
  • c.550+190_550+229del Single submitter
  • c.551-13del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-77ATTCCCTCAGGTCAAGGAGT[4] Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.797+185C>T Single submitter
  • c.798-251T>A Single submitter
  • c.*1125G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*123dup Single submitter
  • c.*1316A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1383G>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1517G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1931A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*211A>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*264dup Single submitter
  • c.*402G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*582A>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*584T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*669C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*730G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn400= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp171= Single submitter STAT3 gain of function
  • p.Cys765= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Cys765Tyr Single submitter STAT3 gain of function
  • p.Gln274= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu16= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu397= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu764= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu533= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro725Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ser668= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr767Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val445= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant

Benign/Likely benign 22

  • c.1110-19_1110-17del Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-4dup Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-7C>T Multiple submitters STAT3 gain of function
  • c.1365+143_1365+146del Multiple submitters
  • c.1365+146dup Multiple submitters
  • c.274-11C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+58del Multiple submitters
  • c.469-34_469-30del Multiple submitters
  • c.550+190C>A Multiple submitters
  • c.551-4G>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-77ATTCCCTCAGGTCAAGGAGT[2] Multiple submitters STAT3 gain of function
  • p.Ala135= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala505= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala697= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn581= Multiple submitters STAT3 gain of function
  • p.Leu275= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu337= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu761= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser381= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser560= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser763Leu Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr443= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant

Likely benign 314

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

  • c.1109+13A>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1233+20C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-18C>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+20C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+64T>C Multiple submitters
  • c.1281+11T>C Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1281+13G>A Multiple submitters STAT3 gain of function
  • c.1282-10G>A Multiple submitters STAT3 gain of function
  • c.1282-11C>T Multiple submitters STAT3 gain of function
  • c.1366-11T>C Multiple submitters STAT3 gain of function
  • c.1366-4G>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1366-9C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1464+14C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+11C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-8_1601-7insG Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1888+7G>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2144+74T>C Multiple submitters
  • c.2145-17C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.273+20A>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.274-128C>G Multiple submitters
  • c.274-15C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.372+10G>C Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.372+15A>C Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.373-4G>C Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+7C>G Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.550+210A>C Multiple submitters
  • c.550+230A>C Multiple submitters
  • c.551-57_551-18del Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-84C>A Multiple submitters
  • c.645+15C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.645+8C>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.646-18G>A Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.797+156C>A Multiple submitters
  • c.956+10C>T Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala102= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala209= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala46= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala702Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala766Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg103= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn401= Multiple submitters
  • p.Gln142= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gln3= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly750= Multiple submitters STAT3 gain of function
  • p.Ile104= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile309= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile498Val Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu144= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu413= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro303= Multiple submitters STAT3 gain of function
  • p.Pro639= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser636= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr545= Multiple submitters STAT3 gain of function
  • p.Tyr674= Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val507Phe Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1049+18del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1049+19A>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1049+7C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1049+9T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1050-19A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1050-5A>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1109+13A>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1109+19G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1109+8C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1110-10_1110-9del Single submitter STAT3 gain of function
  • c.1110-13T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1110-14C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1110-14C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1110-19A>G Single submitter
  • c.1110-6T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1139+14A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1139+18G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1140-16T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1233+11G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1233+14G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1233+31G>A Single submitter
  • c.1233+44G>C Single submitter
  • c.1233+9G>T Single submitter STAT3 gain of function
  • c.1234-12C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-5T>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-8T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1234-9T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+10T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+17T>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+8C>T Single submitter STAT3 gain of function
  • c.128+9T>C Single submitter STAT3 gain of function
  • c.1281+10G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1281+14G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1281+16G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1281+20A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1282-11C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1282-14T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-13T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-18del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-19T>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-20A>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-20A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.129-4C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1365+18A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1365+8C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1366-19G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1366-5C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1366-8C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1464+11C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1464+18T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1465-10T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1465-14G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1465-20A>C Single submitter STAT3 gain of function
  • c.1465-8T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+15C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+7A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-12T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-13_1601-12del Single submitter
  • c.1601-17_1601-16del Single submitter STAT3 gain of function
  • c.1601-18T>C Single submitter STAT3 gain of function
  • c.1601-19C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-20A>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-7_1601-6insT Single submitter STAT3 gain of function
  • c.1601-7C>T Single submitter STAT3 gain of function
  • c.1653+14T>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1653+7A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1654-19C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1748+18_1748+19del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-12C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-15C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-17C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-17C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-18C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-20T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1888+19C>G Single submitter STAT3 gain of function
  • c.1888+19C>T Single submitter STAT3 gain of function
  • c.1888+205A>G Single submitter
  • c.1888+6G>A Single submitter
  • c.1888+9G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1889-12G>A Single submitter STAT3 gain of function
  • c.1889-14A>G Single submitter STAT3 gain of function
  • c.1889-14A>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1889-15C>T Single submitter STAT3 gain of function
  • c.1889-16C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2101+17G>T Single submitter STAT3 gain of function
  • c.2101+20C>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2102-18T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2102-19C>G Single submitter
  • c.2102-79G>A Single submitter
  • c.2144+7G>A Single submitter STAT3 gain of function
  • c.2145-14_2145-12del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2145-14C>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2145-16C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2145-5dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2257+31A>G Single submitter
  • c.2258-14G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2258-16_2258-15del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2258-231A>T Single submitter
  • c.2258-36G>A Single submitter
  • c.2258-6_2258-3del Single submitter STAT3 gain of function
  • c.2258-6C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.2258-8C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.273+12_273+20del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.273+145T>C Single submitter
  • c.273+19G>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.273+22A>G Single submitter
  • c.273+263G>A Single submitter
  • c.274-10C>T Single submitter STAT3 gain of function
  • c.274-13C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.274-20T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.274-4A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.274-8A>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.372+10G>A Single submitter STAT3 gain of function
  • c.373-14C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.373-16A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.373-17G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+19C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+9A>C Single submitter STAT3 gain of function
  • c.469-10_469-6del Single submitter STAT3 gain of function
  • c.469-19del Single submitter STAT3 gain of function
  • c.469-21_469-20dup Single submitter STAT3 gain of function
  • c.550+14dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.550+250C>A Single submitter
  • c.551-13T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-18T>C Single submitter STAT3 gain of function
  • c.551-4G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-5C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-84_551-25del Single submitter
  • c.551-9C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.798-20C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.956+12dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.956+9G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.957-14T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.957-15C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.957-5C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.957-7del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*31C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala119= Single submitter STAT3 gain of function
  • p.Ala122= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala122Val Single submitter STAT3 gain of function
  • p.Ala227= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala250= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala320= Single submitter STAT3 gain of function
  • p.Ala424= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala475= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala547= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ala766= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg103Gln Single submitter STAT3 gain of function
  • p.Arg278= Single submitter STAT3 gain of function
  • p.Arg379= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg595= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg688= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg84= Single submitter STAT3 gain of function
  • p.Asn175His Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn485Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp184= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp24= Single submitter
  • p.Asp24Asn Single submitter STAT3 gain of function ⚠
  • p.Asp374= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp42= Single submitter STAT3 gain of function
  • p.Asp570= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp698= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp723= Single submitter
  • p.Gln17= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gln88= Single submitter STAT3 gain of function
  • p.Gln9= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu111= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu145= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu166= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu307= Single submitter
  • p.Glu415= Single submitter STAT3 gain of function
  • p.Glu592= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu681= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly126Glu Single submitter STAT3 gain of function
  • p.Gly127= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly402= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly421= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly422Ser Single submitter STAT3 gain of function ⚠
  • p.Gly449= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly534= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly541= Single submitter
  • p.Gly604= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly656= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly743= Single submitter
  • p.His131= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.His301= Single submitter STAT3 gain of function
  • p.His410= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile101= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile522= Single submitter STAT3 gain of function
  • p.Ile711= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu109= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu116= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu148= Single submitter STAT3 gain of function
  • p.Leu179= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu188Met Single submitter STAT3 gain of function
  • p.Leu207= Single submitter STAT3 gain of function
  • p.Leu21= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu240= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu270= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu312= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu351= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu436= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu450= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu459= Single submitter STAT3 gain of function
  • p.Leu478= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Leu598= Single submitter STAT3 gain of function
  • p.Leu83= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Lys626= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Lys631= Single submitter STAT3 gain of function
  • p.Met143Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Phe26= Single submitter
  • p.Phe512= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro327= Single submitter STAT3 gain of function
  • p.Pro330= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro356Thr Single submitter STAT3 gain of function
  • p.Pro460= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro603= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro669= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro678= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro725= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro728= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Pro769= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser269= Single submitter STAT3 gain of function
  • p.Ser372= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser405= Single submitter STAT3 gain of function
  • p.Ser465= Single submitter STAT3 gain of function
  • p.Ser48Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser614= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser75= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser763= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ser768= Single submitter STAT3 gain of function
  • p.Thr121= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr121Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr138= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr268= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr341= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr433= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr456= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr516= Single submitter STAT3 gain of function
  • p.Thr526= Single submitter STAT3 gain of function
  • p.Thr600Ser Single submitter STAT3 gain of function
  • p.Thr622= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr714= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr721= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr756= Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant

Uncertain significance 308

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

  • c.373-5G>A Multiple submitters STAT3 gain of function
  • p.Ala123Val Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg107Trp Multiple submitters STAT3 gain of function ⚠
  • p.Arg325Gln Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg350= Multiple submitters STAT3 gain of function
  • p.Arg417Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg423Ter Multiple submitters STAT3 gain of function
  • p.Asn481Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn739Ser Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp661Tyr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp661Val Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Cys718Tyr Multiple submitters STAT3-related disorder ⚠
  • p.Gln117Arg Multiple submitters STAT3 gain of function ⚠
  • p.Gln635His Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly617Arg Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.His58Tyr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile452Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile64Thr Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Leu351Ser Multiple submitters STAT3 gain of function ⚠
  • p.Lys370Arg Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met482Val Multiple submitters STAT3 gain of function ⚠
  • p.Met586Thr Multiple submitters STAT3 gain of function ⚠
  • p.Met648Thr Multiple submitters STAT3 gain of function ⚠
  • p.Met770Thr Multiple submitters STAT3 gain of function ⚠
  • p.Met770Val Multiple submitters STAT3 gain of function ⚠
  • p.Ser614Arg Multiple submitters STAT3 gain of function ⚠
  • p.Val338Ile Multiple submitters STAT3 gain of function ⚠
  • p.Val349Ile Multiple submitters hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • c.1049+3A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1049+9T>G Single submitter
  • c.1110-2_1115del Single submitter STAT3 gain of function
  • c.1111_1112del Single submitter STAT3 gain of function
  • c.1139+2dup Single submitter STAT3 gain of function
  • c.1139+3A>T Single submitter STAT3 gain of function
  • c.1140-3C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1233+4T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.128+3A>G Single submitter STAT3 gain of function
  • c.128+4A>G Single submitter STAT3 gain of function
  • c.1365+5G>T Single submitter
  • c.1366-15_1366-5del Single submitter
  • c.1366-20A>G Single submitter
  • c.1464+3T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1464+6T>C Single submitter STAT3 gain of function
  • c.1465-19A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+4C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1600+5_1600+6delinsTT Single submitter STAT3 gain of function
  • c.1600+5G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1601-6C>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1654-3C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-1G>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-3C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.1749-4C>A Single submitter STAT3-related early-onset multisystem autoimmune disease
  • c.1889-3C>T Single submitter STAT3 gain of function
  • c.2101+2T>C Single submitter
  • c.2144+46_2144+47del Single submitter
  • c.2144+9C>G Single submitter
  • c.2258-2A>G Single submitter STAT3-related early-onset multisystem autoimmune disease
  • c.372+3G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.373-3C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+3G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+5T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.468+6G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.469-3C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-3C>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.551-5C>A Single submitter STAT3 gain of function
  • c.645+6G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.645+9A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.798-3C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-139G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-157A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-162A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-211G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-226C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.-23-1G>T Single submitter
  • c.*1011A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1082G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1196T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1266G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1270C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1415C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1497G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1645C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*165T>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1673C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1675T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1850C>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1850C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1891C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*1970A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*2002G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*2144C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*2255G>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*260G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*594G>A Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*607C>T Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*608A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*646T>C Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • c.*895A>G Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.592ER[1] Single submitter
  • p.Ala119Val Single submitter STAT3 gain of function ⚠
  • p.Ala129Thr Single submitter STAT3 gain of function ⚠
  • p.Ala134Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala209Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala271Val Single submitter Inherited Immunodeficiency Diseases ⚠
  • p.Ala35Ser Single submitter STAT3 gain of function ⚠
  • p.Ala376Gly Single submitter STAT3 gain of function ⚠
  • p.Ala376Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala377Thr Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Ala424Thr Single submitter ⚠
  • p.Ala475Ser Single submitter STAT3 gain of function ⚠
  • p.Ala475Val Single submitter STAT3 gain of function ⚠
  • p.Ala505Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala555Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala596Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala596Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala662Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ala697Gly Single submitter ⚠
  • p.Ala766Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg103Leu Single submitter STAT3 gain of function ⚠
  • p.Arg114Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg114His Single submitter STAT3 gain of function ⚠
  • p.Arg13Trp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg154Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg214Gln Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg215Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg246Gln Single submitter STAT3 gain of function ⚠
  • p.Arg278Leu Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.Arg302Gln Single submitter ⚠
  • p.Arg31Gln Single submitter STAT3 gain of function ⚠
  • p.Arg325Trp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg350Met Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg379Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg414Lys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Arg414Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg417Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg518Gln Single submitter ⚠
  • p.Arg595_Ala596insGluArg Single submitter STAT3 gain of function
  • p.Arg609Ser Single submitter STAT3 gain of function ⚠
  • p.Arg688Gln Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg70Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg70His Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Arg84Gln Single submitter ⚠
  • p.Arg84Ter Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asn192Lys Single submitter STAT3 gain of function ⚠
  • p.Asn390Ile Single submitter STAT3 gain of function ⚠
  • p.Asn400Ile Single submitter STAT3 gain of function ⚠
  • p.Asn401Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asn466Ile Single submitter STAT3 gain of function ⚠
  • p.Asn553fs Single submitter STAT3 gain of function
  • p.Asn647Ile Single submitter
  • p.Asn647Ser Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asn664Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp150Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp157Asn Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp170Asn Single submitter STAT3 gain of function ⚠
  • p.Asp170Gly Single submitter STAT3 gain of function ⚠
  • p.Asp170Tyr Single submitter STAT3 gain of function ⚠
  • p.Asp171Asn Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp374Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp374Tyr Single submitter STAT3 gain of function ⚠
  • p.Asp502fs Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Asp65Glu Single submitter STAT3 gain of function ⚠
  • p.Asp723Glu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Asp732Gly Single submitter STAT3 gain of function
  • p.Cys259Tyr Single submitter STAT3 gain of function ⚠
  • p.Cys328Phe Single submitter ⚠
  • p.Cys418Arg Single submitter STAT3 gain of function ⚠
  • p.Cys426Tyr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Cys718Ter Single submitter STAT3 gain of function
  • p.Cys765Ser Single submitter STAT3 gain of function ⚠
  • p.Gln125= Single submitter STAT3 gain of function
  • p.Gln128Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gln182Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gln202Arg Single submitter ⚠
  • p.Gln279Pro Single submitter ⚠
  • p.Gln469Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gln524Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln635Ter Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gln644del Single submitter STAT3 gain of function
  • p.Glu166Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu264Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu286Lys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu306Ala Single submitter STAT3 gain of function ⚠
  • p.Glu435Lys Single submitter ⚠
  • p.Glu444Ter Single submitter STAT3 gain of function
  • p.Glu455Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu506Lys Single submitter STAT3 gain of function ⚠
  • p.Glu530Lys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu616Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu616del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Glu652Gly Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Glu753Lys Single submitter STAT3 gain of function ⚠
  • p.Gly373Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly421Glu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly536Ala Single submitter STAT3 gain of function ⚠
  • p.Gly556fs Single submitter
  • p.Gly558Ala Single submitter ⚠
  • p.Gly558Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly604Ala Single submitter ⚠
  • p.Gly656_Met660del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly656_Tyr657insPhe Single submitter STAT3 gain of function
  • p.Gly656Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly656Asp Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly684Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Gly738fs Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Gly750Arg Single submitter ⚠
  • p.His131Gln Single submitter ⚠
  • p.His332Arg Single submitter ⚠
  • p.His410Arg Single submitter ⚠
  • p.His410Gln Single submitter STAT3 gain of function ⚠
  • p.His447Asp Single submitter STAT3-related early-onset multisystem autoimmune disease ⚠
  • p.His52Arg Single submitter STAT3 gain of function ⚠
  • p.His58Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile104Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile217Phe Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile267Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile298fs Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Ile298Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile364Asn Single submitter STAT3 gain of function ⚠
  • p.Ile452Val Single submitter STAT3-related disorder ⚠
  • p.Ile477Thr Single submitter ⚠
  • p.Ile585Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ile665Phe Single submitter STAT3 gain of function ⚠
  • p.Ile677Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Leu337Val Single submitter STAT3 gain of function ⚠
  • p.Leu362Phe Single submitter STAT3 gain of function ⚠
  • p.Leu413Gln Single submitter ⚠
  • p.Leu450Phe Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Leu565Arg Single submitter STAT3 gain of function ⚠
  • p.Leu565fs Single submitter STAT3 gain of function
  • p.Leu706Gln Single submitter STAT3 gain of function ⚠
  • p.Lys140Asn Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Lys283Asn Single submitter STAT3 gain of function ⚠
  • p.Lys283Glu Single submitter ⚠
  • p.Lys294Glu Single submitter STAT3 gain of function ⚠
  • p.Lys348Glu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Lys409Ter Single submitter STAT3 gain of function
  • p.Lys531Arg Single submitter STAT3 gain of function ⚠
  • p.Lys557Glu Single submitter ⚠
  • p.Lys591Asn Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Lys601Thr Single submitter ⚠
  • p.Met162Val Single submitter ⚠
  • p.Met185Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met206Arg Single submitter ⚠
  • p.Met206Ile Single submitter STAT3 gain of function ⚠
  • p.Met213Ile Single submitter ⚠
  • p.Met304Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met317Ile Single submitter STAT3 gain of function ⚠
  • p.Met586Ile Single submitter ⚠
  • p.Met586Val Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met655Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Met759Ile Single submitter STAT3 gain of function ⚠
  • p.Met759Val Single submitter ⚠
  • p.Phe321Val Single submitter ⚠
  • p.Phe355Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Phe384fs Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Phe441Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Phe561del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Phe757Leu Single submitter STAT3 gain of function
  • p.Pro255Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Pro303Leu Single submitter STAT3 gain of function
  • p.Pro327Ser Single submitter STAT3 gain of function ⚠
  • p.Pro487Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Pro497Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Pro535Phe Single submitter
  • p.Pro669Ser Single submitter STAT3 gain of function ⚠
  • p.Pro678His Single submitter ⚠
  • p.Pro746Leu Single submitter STAT3 gain of function ⚠
  • p.Ser113Leu Single submitter ⚠
  • p.Ser292Cys Single submitter STAT3 gain of function
  • p.Ser292Thr Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ser319Asn Single submitter STAT3 gain of function ⚠
  • p.Ser465Ala Single submitter STAT3 gain of function ⚠
  • p.Ser514Thr Single submitter ⚠
  • p.Ser521Asn Single submitter ⚠
  • p.Ser540Ala Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ser611Gly Single submitter STAT3 gain of function ⚠
  • p.Ser636Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ser649Pro Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Ser768Phe Single submitter STAT3 gain of function ⚠
  • p.Thr412Ala Single submitter STAT3 gain of function ⚠
  • p.Thr443Ile Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Thr600del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr663Leu Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Thr721Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr756Ser Single submitter STAT3 gain of function ⚠
  • p.Trp110Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Trp479Cys Single submitter STAT3 gain of function ⚠
  • p.Trp546Arg Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Trp623Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Trp623fs Single submitter
  • p.Trp623Ter Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Tyr293Cys Single submitter STAT3 gain of function ⚠
  • p.Tyr657dup Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Tyr672Cys Single submitter STAT3 gain of function ⚠
  • p.Tyr94Cys Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Val136Leu Single submitter STAT3 gain of function ⚠
  • p.Val136Met Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant ⚠
  • p.Val299del Single submitter hyper-IgE recurrent infection syndrome 1, autosomal dominant
  • p.Val322Ala Single submitter Inborn genetic diseases ⚠