STAT3[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 323205	NM_139276.3(STAT3):c.2343_2344del	STAT3	Deletion (3 prime UTR variant)	Hyper-IgE syndrome	GUncertain significance
Select item 323206	NM_139276.3(STAT3):c.*2343del	STAT3	Deletion (3 prime UTR variant)	Hyper-IgE syndrome	GUncertain significance
Select item 323207	NM_139276.3(STAT3):c.*2340dup	STAT3	Duplication (3 prime UTR variant)	Hyper-IgE syndrome	GUncertain significance
Select item 323208	NM_139276.3(STAT3):c.*2255G>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323209	NM_139276.3(STAT3):c.*2147A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323210	NM_139276.3(STAT3):c.*2144C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323211	NM_139276.3(STAT3):c.*2002G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 888897	NM_139276.3(STAT3):c.*1970A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323212	NM_139276.3(STAT3):c.*1931A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 890595	NM_139276.3(STAT3):c.*1891C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323213	NM_139276.3(STAT3):c.*1853A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323215	NM_139276.3(STAT3):c.*1850C>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323214	NM_139276.3(STAT3):c.*1850C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323216	NM_139276.3(STAT3):c.*1675T>C	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323217	NM_139276.3(STAT3):c.*1673C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323218	NM_139276.3(STAT3):c.*1671C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 891153	NM_139276.3(STAT3):c.*1645C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323219	NM_139276.3(STAT3):c.*1517G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323220	NM_139276.3(STAT3):c.*1497G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323221	NM_139276.3(STAT3):c.*1415C>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323222	NM_139276.3(STAT3):c.*1383G>C	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323223	NM_139276.3(STAT3):c.*1325A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323224	NM_139276.3(STAT3):c.*1316A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323225	NM_139276.3(STAT3):c.*1270C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323226	NM_139276.3(STAT3):c.*1266G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323227	NM_139276.3(STAT3):c.*1196T>C	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323228	NM_139276.3(STAT3):c.*1125G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 892351	NM_139276.3(STAT3):c.*1082G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 892352	NM_139276.3(STAT3):c.*1011A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323229	NM_139276.3(STAT3):c.*895A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323231	NM_139276.3(STAT3):c.*893dup	STAT3	Duplication (3 prime UTR variant)	Hyper-IgE syndrome	GUncertain significance
Select item 323230	NM_139276.3(STAT3):c.*894del	STAT3	Deletion (3 prime UTR variant)	Hyper-IgE syndrome	GUncertain significance
Select item 323232	NM_139276.3(STAT3):c.*730G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323233	NM_139276.3(STAT3):c.*669C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323234	NM_139276.3(STAT3):c.*646T>C	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 888954	NM_139276.3(STAT3):c.*608A>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 888955	NM_139276.3(STAT3):c.*607C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 888956	NM_139276.3(STAT3):c.*594G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323235	NM_139276.3(STAT3):c.*584T>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323236	NM_139276.3(STAT3):c.*582A>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 888957	NM_139276.3(STAT3):c.*402G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 323237	NM_139276.3(STAT3):c.*342GTT[3]	STAT3	Microsatellite (3 prime UTR variant)	Hyper-IgE syndrome	GLikely benign
Select item 323238	NM_139276.3(STAT3):c.*264dup	STAT3	Duplication (3 prime UTR variant)	Hyper-IgE syndrome +1 more	GBenign/Likely benign
Select item 323239	NM_139276.3(STAT3):c.*260G>A	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323240	NM_139276.3(STAT3):c.*211A>C	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GBenign
Select item 889637	NM_139276.3(STAT3):c.*165T>G	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 1704621	NM_139276.3(STAT3):c.*123dup	STAT3	Duplication (3 prime UTR variant)	not specified	GBenign
Select item 889638	NM_139276.3(STAT3):c.*31C>T	STAT3	Single nucleotide variant (3 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GLikely benign
Select item 1501107	NM_139276.3(STAT3):c.2309T>C (p.Met770Thr)	STAT3 (M737T +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 1369061	NM_139276.3(STAT3):c.2308A>G (p.Met770Val)	STAT3 (M761V +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 1658924	NM_139276.3(STAT3):c.2307C>G (p.Pro769=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 2180030	NM_139276.3(STAT3):c.2304C>T (p.Ser768=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 1045933	NM_139276.3(STAT3):c.2303C>T (p.Ser768Phe)	STAT3 (S759F +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GUncertain significance
Select item 728516	NM_139276.3(STAT3):c.2301C>T (p.Thr767=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 2948285	NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala)	STAT3 (T734A +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 1152705	NM_139276.3(STAT3):c.2298T>C (p.Ala766=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
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 +1 more	GLikely benign
Select item 754191	NM_139276.3(STAT3):c.2296G>A (p.Ala766Thr)	STAT3 (A766T +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 760615	NM_139276.3(STAT3):c.2295C>T (p.Cys765=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2100270	NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr)	STAT3 (C732Y +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 1531636	NM_139276.3(STAT3):c.2289G>A (p.Ser763=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 515337	NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu)	STAT3 (S763L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 378673	NM_139276.3(STAT3):c.2281T>C (p.Leu761=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GBenign
Select item 1499925	NM_139276.3(STAT3):c.2277G>A (p.Met759Ile)	STAT3 (M750I +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 1055052	NM_139276.3(STAT3):c.2271T>G (p.Phe757Leu)	STAT3 (F724L +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GUncertain significance
Select item 2647786	NM_139276.3(STAT3):c.2269T>C (p.Phe757Leu)	STAT3 (F724L +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2924351	NM_139276.3(STAT3):c.2268C>T (p.Thr756=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2951752	NM_139276.3(STAT3):c.2266A>T (p.Thr756Ser)	STAT3 (T724S +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GUncertain significance
Select item 2431605	NM_139276.3(STAT3):c.2258-2A>G	STAT3	Single nucleotide variant (splice acceptor variant)	STAT3-related early-onset multisystem autoimmune disease	GUncertain significance
Select item 2117519	NM_139276.3(STAT3):c.2258-6_2258-3del	STAT3	Deletion (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2945763	NM_139276.3(STAT3):c.2258-8C>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 1577123	NM_139276.3(STAT3):c.2258-14G>A	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2008815	NM_139276.3(STAT3):c.2258-16_2258-15del	STAT3	Deletion (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 677746	NM_139276.3(STAT3):c.2258-181C>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245519	NM_139276.3(STAT3):c.2257+318C>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219373	NM_139276.3(STAT3):c.2257+31A>G	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2949459	NM_139276.3(STAT3):c.2257G>A (p.Glu753Lys)	STAT3 (E720K +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2925988	NM_139276.3(STAT3):c.2250G>A (p.Gly750=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 1307644	NM_139276.3(STAT3):c.2248G>C (p.Gly750Arg)	STAT3 (G717R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514074	NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)	STAT3 (G743V +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease +4 more	GConflicting classifications of pathogenicity
Select item 636593	NM_139276.3(STAT3):c.2223T>C (p.Gly741=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 323241	NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser)	STAT3 (N739S +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 2031000	NM_139276.3(STAT3):c.2211dup (p.Gly738fs)	STAT3 (G705fs +13 more)	Duplication (frameshift variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 1660033	NM_139276.3(STAT3):c.2200T>C (p.Leu734=)	STAT3 (I716T +3 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 1960976	NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu)	STAT3 (P692L +8 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GBenign
Select item 1556462	NM_139276.3(STAT3):c.2163C>G (p.Thr721=)	STAT3	Single nucleotide variant (intron variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2079299	NM_139276.3(STAT3):c.2153G>A (p.Cys718Tyr)	STAT3 (C717Y +7 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +2 more	GUncertain significance
Select item 224848	NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)	STAT3 (T716M +7 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease +3 more	GPathogenic
Select item 1125665	NM_139276.3(STAT3):c.2145-5dup	STAT3	Duplication (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2043222	NM_139276.3(STAT3):c.2145-12dup	STAT3	Duplication (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 1544879	NM_139276.3(STAT3):c.2145-14_2145-12del	STAT3	Deletion (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2932263	NM_139276.3(STAT3):c.2145-16C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2030018	NM_139276.3(STAT3):c.2145-17C>T	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 1216553	NM_139276.3(STAT3):c.2144+74T>C	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1677207	NM_139276.3(STAT3):c.2144+46_2144+47del	STAT3	Deletion (intron variant)	not specified	GUncertain significance
Select item 262464	NM_139276.3(STAT3):c.2144+20C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more	GBenign
Select item 2577192	NM_139276.3(STAT3):c.2144+9C>G	STAT3	Single nucleotide variant (intron variant)	not specified	GUncertain significance

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