"GeneDx"[submitter] AND "STAT3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1501107	NM_139276.3(STAT3):c.2309T>C (p.Met770Thr)	STAT3 (M737T +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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)	STAT3 gain of function +2 more	GBenign
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 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)	not provided +3 more	GConflicting classifications of pathogenicity
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 1216553	NM_139276.3(STAT3):c.2144+74T>C	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262464	NM_139276.3(STAT3):c.2144+20C>T	STAT3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1212941	NM_139276.3(STAT3):c.2144+1G>A	STAT3	Single nucleotide variant (splice donor variant +1 more)	not provided +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 430388	NM_139276.3(STAT3):c.2131A>G (p.Ile711Val)	STAT3 (I711V +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely pathogenic
Select item 449411	NM_139276.3(STAT3):c.2125A>G (p.Lys709Glu)	STAT3 (K709E +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 429592	NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro)	STAT3 (L706P +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +2 more	GPathogenic/Likely pathogenic
Select item 1217055	NM_139276.3(STAT3):c.2102-79G>A	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 323242	NM_139276.3(STAT3):c.2091T>A (p.Ala697=)	STAT3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 265261	NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)	STAT3 (M660T +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more	GPathogenic/Likely pathogenic
Select item 420336	NM_139276.3(STAT3):c.1969_1971delinsCAG (p.Tyr657Gln)	STAT3 (Y657Q +7 more)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 424347	NM_139276.3(STAT3):c.1943T>A (p.Met648Lys)	STAT3 (M648K +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 372521	NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe)	STAT3 (Y640F +7 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 18308	NM_139276.3(STAT3):c.1909G>A (p.Val637Met)	STAT3 (V637M +7 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +3 more	GPathogenic
Select item 1179517	NM_139276.3(STAT3):c.1888+205A>G	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677152	NM_139276.3(STAT3):c.1888+158T>C	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677151	NM_139276.3(STAT3):c.1888+142C>G	STAT3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 509675	NM_139276.3(STAT3):c.1888+6G>A	STAT3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 432937	NM_139276.3(STAT3):c.1863C>A (p.Phe621Leu)	STAT3 (F621L +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 323243	NM_139276.3(STAT3):c.1854C>T (p.Gly618=)	STAT3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 421084	NM_139276.3(STAT3):c.1846G>C (p.Glu616Gln)	STAT3 (E616Q +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265440	NM_139276.3(STAT3):c.1840A>G (p.Ser614Gly)	STAT3 (S614G +7 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1021039	NM_139276.3(STAT3):c.1757T>C (p.Met586Thr)	STAT3 (M554T +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424041	NM_139276.3(STAT3):c.1744G>A (p.Glu582Lys)	STAT3 (E582K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 36787	NM_139276.3(STAT3):c.1654-11C>G	STAT3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 165294	NM_139276.3(STAT3):c.1601-10dup	STAT3	Duplication	STAT3 gain of function +5 more	GBenign
Select item 36786	STAT3:c.1601-72_1601-71del	STAT3	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246980	NM_139276.3(STAT3):c.1600+191G>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292786	NM_139276.3(STAT3):c.1600+162G>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253696	NM_139276.3(STAT3):c.1600+62G>C	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508536	NM_139276.3(STAT3):c.1600+11C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 1294248	NM_139276.3(STAT3):c.1464+35A>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371738	NM_139276.3(STAT3):c.1430T>C (p.Ile477Thr)	STAT3 (I445T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378672	NM_139276.3(STAT3):c.1414A>G (p.Asn472Asp)	STAT3 (N472D +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 418505	NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser)	STAT3 (N466S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 381595	NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr)	STAT3 (N466T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 18303	NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)	STAT3 (V463del +5 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 424053	NM_139276.3(STAT3):c.1366-15_1366-5del	STAT3	Deletion (intron variant)	not provided	GUncertain significance
Select item 36785	NM_139276.3(STAT3):c.1365+146dup	STAT3	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1300285	NM_139276.3(STAT3):c.1365+143_1365+146del	STAT3	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2938539	NM_139276.3(STAT3):c.1355T>C (p.Ile452Thr)	STAT3 (I426T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2503129	NM_139276.3(STAT3):c.1339C>G (p.His447Asp)	STAT3 (H415D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508926	NM_139276.3(STAT3):c.1329C>T (p.Thr443=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GBenign/Likely benign
Select item 1305948	NM_139276.3(STAT3):c.1303G>A (p.Glu435Lys)	STAT3 (E403K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230307	NM_139276.3(STAT3):c.1282-21G>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245407	NM_139276.3(STAT3):c.1282-93C>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252217	NM_139276.3(STAT3):c.1282-162T>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250621	NM_139276.3(STAT3):c.1282-253C>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239006	NM_139276.3(STAT3):c.1281+258T>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269237	NM_139276.3(STAT3):c.1281+33del	STAT3	Deletion (intron variant)	not provided	GBenign
Select item 386943	NM_139276.3(STAT3):c.1281+11T>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
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 2501467	NM_139276.3(STAT3):c.1238T>A (p.Leu413Gln)	STAT3 (L381Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233827	NM_139276.3(STAT3):c.1233+43C>G	STAT3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 515979	NM_139276.3(STAT3):c.1233+20C>T	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +2 more	GLikely benign
Select item 948861	NM_139276.3(STAT3):c.1165A>G (p.Thr389Ala)	STAT3 (T389A)	Single nucleotide variant (missense variant)	not provided +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 18304	NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)	STAT3 (R382W +4 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +3 more	GPathogenic
Select item 674423	NM_139276.3(STAT3):c.1109+87G>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294247	NM_139276.3(STAT3):c.1109+24G>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429432	NM_139276.3(STAT3):c.1022C>T (p.Thr341Ile)	STAT3 (T341I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 36783	NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)	STAT3 (R335W +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 427058	NM_139276.3(STAT3):c.992T>G (p.Met331Arg)	STAT3 (M331R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1800571	NM_139276.3(STAT3):c.988C>T (p.Pro330Ser)	STAT3 (P298S +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2499913	NM_139276.3(STAT3):c.983G>T (p.Cys328Phe)	STAT3 (C296F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499734	NM_139276.3(STAT3):c.961T>G (p.Phe321Val)	STAT3 (F289V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804603	NM_139276.3(STAT3):c.952A>G (p.Lys318Glu)	STAT3 (K286E +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 2504452	NM_139276.3(STAT3):c.919dup (p.Glu307fs)	STAT3 (E275fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2576790	NM_139276.3(STAT3):c.836A>C (p.Gln279Pro)	STAT3 (Q247P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450010	NM_139276.3(STAT3):c.832C>T (p.Arg278Cys)	STAT3 (R278C +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 669672	NM_139276.3(STAT3):c.798-251T>A	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677247	NM_139276.3(STAT3):c.797+185C>T	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179307	NM_139276.3(STAT3):c.797+156C>A	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418817	NM_139276.3(STAT3):c.709_712del (p.Asp237fs)	LOC130060888, STAT3 (D237fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 36793	NM_139276.3(STAT3):c.711C>T (p.Asp237=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +2 more	GBenign
Select item 387174	NM_139276.3(STAT3):c.690C>T (p.Tyr230=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 2189655	NM_139276.3(STAT3):c.680C>T (p.Ala227Val)	LOC130060888, STAT3 (A195V +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GUncertain significance
Select item 3364962	NM_139276.3(STAT3):c.665C>T (p.Ala222Val)	LOC130060888, STAT3 (A190V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390379	NM_139276.3(STAT3):c.646-18G>A	LOC130060888, STAT3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1241894	NM_139276.3(STAT3):c.645+40C>G	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579849	NM_139276.3(STAT3):c.617T>G (p.Met206Arg)	STAT3 (M174R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309253	NM_139276.3(STAT3):c.605A>G (p.Gln202Arg)	STAT3 (Q170R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503385	NM_139276.3(STAT3):c.587C>A (p.Thr196Asn)	LOC130060889, STAT3 (T164N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950289	NM_139276.3(STAT3):c.581C>T (p.Ser194Leu)	LOC130060889, STAT3 (S194L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1099997	NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[2]	STAT3	Microsatellite (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GLikely benign
Select item 419911	NM_139276.3(STAT3):c.551-57_551-18del	STAT3	Microsatellite (intron variant)	STAT3 gain of function +2 more	GLikely benign
Select item 1197563	NM_139276.3(STAT3):c.551-84_551-25del	STAT3	Deletion (intron variant)	not provided	GLikely benign
Select item 677244	NM_139276.3(STAT3):c.551-44A>C	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677558	NM_139276.3(STAT3):c.551-64A>C	STAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205076	NM_139276.3(STAT3):c.551-84C>A	STAT3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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