NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2025β Residue 335
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|Inherited Immunodeficiency Diseases|not provided
β
β
ββ2025β Residue 382
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided|Hyper-IgE syndrome|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2025β Residue 637
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided
β
β
ββ2025β Residue 657
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser)Pathogenic
not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2025β Residue 466
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|STAT3-related early-onset multisystem autoimmune disease|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2025β Residue 423
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)Pathogenic
not provided|Inborn genetic diseases|Inherited Immunodeficiency Diseases|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3-related early-onset multisystem autoimmune disease|STAT3-related early-onset multisystem autoimmune disease|STAT3-related disorder
β
β
ββ2025β Residue 715
NM_139276.3(STAT3):c.2125A>G (p.Lys709Glu)Likely pathogenic
not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2025β Residue 709
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|STAT3-related early-onset multisystem autoimmune disease|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3-related early-onset multisystem autoimmune disease
β
β
ββ2025β Residue 382
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)Pathogenic
STAT3-related early-onset multisystem autoimmune disease|not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant|Hyper-IgE recurrent infection syndrome 1, autosomal dominant|STAT3-related disorder
β
β
ββ2025β Residue 421
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)Pathogenic
STAT3-related early-onset multisystem autoimmune disease|not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant|See cases
β
β
ββ2025β Residue 716
NM_139276.3(STAT3):c.1165A>G (p.Thr389Ala)Likely pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|not provided
β
β
ββ2025β Residue 389
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys)Likely pathogenic
not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2025β Residue 278
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)Pathogenic
not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function|Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2025β Residue 332
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro)Pathogenic
not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2025β Residue 706
NM_139276.3(STAT3):c.1863C>A (p.Phe621Leu)Pathogenic
not provided|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2025β Residue 621
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)Pathogenic
not provided|Hyper-IgE syndrome|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2024β Residue 660
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)Pathogenic
STAT3-related early-onset multisystem autoimmune disease|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided
β
β
ββ2024β Residue 152
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)Likely pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|STAT3 gain of function;Hyper-IgE recurrent infection syndrome 1, autosomal dominant
β
β
ββ2024β Residue 594
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)Pathogenic
Hyper-IgE recurrent infection syndrome 1, autosomal dominant|not provided|Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function
β
β
ββ2022β Residue 463