"Ambry Genetics"[submitter] AND "STAT3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1369061	NM_139276.3(STAT3):c.2308A>G (p.Met770Val)	STAT3 (M761V +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +2 more	GUncertain significance
Select item 2936007	NM_139276.3(STAT3):c.2297C>T (p.Ala766Val)	STAT3 (A733V +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 421171	NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	STAT3 (P715L +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +5 more	GPathogenic/Likely pathogenic
Select item 3171113	NM_139276.3(STAT3):c.1118G>C (p.Gly373Ala)	STAT3 (G347A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389278	NM_139276.3(STAT3):c.1012G>A (p.Val338Ile)	STAT3 (V306I +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GUncertain significance
Select item 2308162	NM_139276.3(STAT3):c.995A>T (p.His332Leu)	STAT3 (H300L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic

ClinVar