"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 827745	NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu)	STAT3 (K707E +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +2 more	GConflicting classifications of pathogenicity
Select item 18305	NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)	STAT3 (R382Q +4 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +3 more	GPathogenic
Select item 827744	NM_139276.3(STAT3):c.986T>G (p.Met329Arg)	STAT3 (M329R)	Single nucleotide variant (missense variant)	STAT3 gain of function +3 more	GConflicting classifications of pathogenicity
Select item 827746	NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)	STAT3 (K290N)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 827743	NM_139276.3(STAT3):c.812C>T (p.Ala271Val)	STAT3 (A271V)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GUncertain significance

ClinVar