"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224848	NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)	STAT3 (T716M +7 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more	GPathogenic
Select item 224850	NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr)	STAT3 (A703T +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 224845	NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile)	STAT3 (T663I +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224844	NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)	STAT3 (G421R +4 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +4 more	GPathogenic/Likely pathogenic
Select item 224849	NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys)	STAT3 (N420K +4 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 36784	NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)	STAT3 (E415K +4 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 224847	NM_139276.3(STAT3):c.1057G>T (p.Val353Phe)	STAT3 (V353F +2 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 224843	NM_139276.3(STAT3):c.1032G>C (p.Gln344His)	STAT3 (Q344H +2 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 224846	NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)	STAT3 (R152W +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GPathogenic