"STAT3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 514074	NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)	STAT3 (G743V +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1660033	NM_139276.3(STAT3):c.2200T>C (p.Leu734=)	STAT3 (I716T +3 more)	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 2079299	NM_139276.3(STAT3):c.2153G>A (p.Cys718Tyr)	STAT3 (C717Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GUncertain significance
Select item 421171	NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	STAT3 (P715L +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 3061321	NM_139276.3(STAT3):c.1756A>T (p.Met586Leu)	STAT3 (M554L +7 more)	Single nucleotide variant (missense variant)	STAT3-related disorder	GUncertain significance
Select item 496544	NM_139276.3(STAT3):c.1680C>T (p.Ser560=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3-related disorder +3 more	GBenign
Select item 542785	NM_139276.3(STAT3):c.1492A>G (p.Ile498Val)	STAT3 (I498V +6 more)	Single nucleotide variant (missense variant)	STAT3-related disorder +2 more	GLikely benign
Select item 3058126	NM_139276.3(STAT3):c.1392C>T (p.Ile464=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3-related disorder	GLikely benign
Select item 1086778	NM_139276.3(STAT3):c.1366-4G>A	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 1102900	NM_139276.3(STAT3):c.1059C>T (p.Val353=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 2635216	NM_139276.3(STAT3):c.1018A>G (p.Lys340Glu)	STAT3 (K308E +2 more)	Single nucleotide variant (missense variant)	STAT3-related disorder	GLikely pathogenic
Select item 725991	NM_139276.3(STAT3):c.825T>G (p.Leu275=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3-related disorder +3 more	GBenign/Likely benign
Select item 740901	NM_139276.3(STAT3):c.804G>A (p.Thr268=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 36793	NM_139276.3(STAT3):c.711C>T (p.Asp237=)	STAT3, LOC130060888	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 734135	NM_139276.3(STAT3):c.551-4G>A	STAT3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1589306	NM_139276.3(STAT3):c.348A>G (p.Leu116=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3-related disorder +2 more	GLikely benign
Select item 796342	NM_139276.3(STAT3):c.274-8A>T	STAT3	Single nucleotide variant (intron variant)	STAT3-related disorder +2 more	GLikely benign