ClinVar for OMIM (Select 147060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234995	NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter)	STAT3 (R486* +6 more)	Single nucleotide variant (nonsense)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GLikely pathogenic
Select item 3067978	NM_139276.3(STAT3):c.1869G>T (p.Trp623Cys)	STAT3 (W591C +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 2954506	NM_139276.3(STAT3):c.1969_1970insTTT (p.Gly656_Tyr657insPhe)	STAT3	Insertion (inframe_insertion)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2954433	NM_139276.3(STAT3):c.917A>C (p.Glu306Ala)	STAT3 (E274A +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2954328	NM_139276.3(STAT3):c.1842C>G (p.Ser614Arg)	STAT3 (S586R +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2953919	NM_139276.3(STAT3):c.979C>T (p.Pro327Ser)	STAT3 (P327S +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2952968	NM_139276.3(STAT3):c.128+3A>G	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2952760	NM_139276.3(STAT3):c.1658del (p.Asn553fs)	STAT3 (N525fs +6 more)	Deletion (frameshift variant)	STAT3 gain of function +1 more	GUncertain significance
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 2951318	NM_139276.3(STAT3):c.903C>T (p.His301=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2951119	NM_139276.3(STAT3):c.1178T>A (p.Val393Glu)	STAT3 (V393E +4 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2951078	NM_139276.3(STAT3):c.576C>G (p.Asn192Lys)	LOC130060889, STAT3 (N160K +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2951052	NM_139276.3(STAT3):c.92G>A (p.Arg31Gln)	STAT3 (R31Q)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2950972	NM_139276.3(STAT3):c.1052T>C (p.Leu351Ser)	STAT3 (L325S +2 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GUncertain significance
Select item 2950745	NM_139276.3(STAT3):c.551-18T>C	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2950673	NM_139276.3(STAT3):c.252A>T (p.Arg84=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2950651	NM_139276.3(STAT3):c.1592A>G (p.Lys531Arg)	STAT3 (K536R +6 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2950605	NM_139276.3(STAT3):c.1252T>C (p.Cys418Arg)	STAT3 (C398R +4 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2949805	NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg)	STAT3	Microsatellite (inframe_insertion)	STAT3 gain of function +1 more	GUncertain significance
Select item 2949653	NM_139276.3(STAT3):c.264G>A (p.Gln88=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2949648	NM_139276.3(STAT3):c.128+9T>C	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	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 2949136	NM_139276.3(STAT3):c.2101+17G>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2948861	NM_139276.3(STAT3):c.1984G>A (p.Ala662Thr)	STAT3 (A630T +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2948791	NM_139276.3(STAT3):c.128+10T>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2948783	NM_139276.3(STAT3):c.753C>A (p.Cys251Ter)	LOC130060888, STAT3 (C219* +2 more)	Single nucleotide variant (nonsense)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2948354	NM_139276.3(STAT3):c.511G>A (p.Asp171Asn)	STAT3 (D139N +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
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 2946227	NM_139276.3(STAT3):c.1050-5A>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2945904	NM_139276.3(STAT3):c.327G>T (p.Leu109=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +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 2945692	NM_139276.3(STAT3):c.1406A>C (p.Gln469Pro)	STAT3 (Q443P +5 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2945551	NM_139276.3(STAT3):c.1987_1988delinsCT (p.Thr663Leu)	STAT3 (T654L +7 more)	Indel (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2945208	NM_139276.3(STAT3):c.1749-18C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2944968	NM_139276.3(STAT3):c.1464+3T>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2944965	NM_139276.3(STAT3):c.750C>T (p.Ala250=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2944445	NM_139276.3(STAT3):c.1137A>T (p.Arg379Ser)	STAT3 (R353S +4 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2944018	NM_139276.3(STAT3):c.797+13A>G	LOC130060888, STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2943466	NM_139276.3(STAT3):c.1600+15C>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2942286	NM_139276.3(STAT3):c.1277G>A (p.Cys426Tyr)	STAT3 (C406Y +4 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2941928	NM_139276.3(STAT3):c.1049+3A>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2941829	NM_139276.3(STAT3):c.1847A>C (p.Glu616Ala)	STAT3 (E584A +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2941580	NM_139276.3(STAT3):c.1335G>A (p.Val445=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2940370	NM_139276.3(STAT3):c.856G>A (p.Glu286Lys)	STAT3 (E254K +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2940006	NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)	STAT3 (V685L +9 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GPathogenic
Select item 2939926	NM_139276.3(STAT3):c.1281+20A>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2939894	NM_139276.3(STAT3):c.1756A>G (p.Met586Val)	STAT3 (M586V +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2939776	NM_139276.3(STAT3):c.797+17G>A	STAT3, LOC130060888	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2939242	NM_139276.3(STAT3):c.956+9G>A	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2938682	NM_139276.3(STAT3):c.225G>T (p.Ser75=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2938539	NM_139276.3(STAT3):c.1355T>C (p.Ile452Thr)	STAT3 (I426T +4 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2938331	NM_139276.3(STAT3):c.1600+7A>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2937520	NM_139276.3(STAT3):c.372+3G>A	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2937454	NM_139276.3(STAT3):c.1080T>C (p.Tyr360=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
Select item 2937270	NM_139276.3(STAT3):c.2063G>A (p.Arg688Gln)	STAT3 (R679Q +7 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2937125	NM_139276.3(STAT3):c.551-3C>A	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2937109	NM_139276.3(STAT3):c.1049+18del	STAT3	Deletion (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2937048	NM_139276.3(STAT3):c.1233+11G>A	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2936779	NM_139276.3(STAT3):c.797+18C>T	LOC130060888, STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2936467	NM_139276.3(STAT3):c.2034C>G (p.Pro678=)	STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2936349	NM_139276.3(STAT3):c.1465-19A>G	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2935811	NM_139276.3(STAT3):c.1267C>T (p.Arg423Ter)	STAT3 (R397* +4 more)	Single nucleotide variant (nonsense)	STAT3 gain of function +1 more	GUncertain significance
Select item 2935341	NM_139276.3(STAT3):c.1601-20A>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2934848	NM_139276.3(STAT3):c.468+7C>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933894	NM_139276.3(STAT3):c.1365+18A>G	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933766	NM_139276.3(STAT3):c.63C>G (p.Leu21=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933386	NM_139276.3(STAT3):c.1600+5G>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2933242	NM_139276.3(STAT3):c.1049+7C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933069	NM_139276.3(STAT3):c.1453A>G (p.Asn485Asp)	STAT3 (N453D +5 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933042	NM_139276.3(STAT3):c.720G>A (p.Leu240=)	STAT3, LOC130060888	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2933023	NM_139276.3(STAT3):c.48G>A (p.Glu16=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2932941	NM_139276.3(STAT3):c.1200C>T (p.Asn400=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
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 2932164	NM_139276.3(STAT3):c.1855G>A (p.Val619Ile)	STAT3 (V599I +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2932057	NM_139276.3(STAT3):c.928G>A (p.Val310Met)	STAT3 (V284M +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2931639	NM_139276.3(STAT3):c.1515C>T (p.Ala505=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2931142	NM_139276.3(STAT3):c.1940A>G (p.Asn647Ser)	STAT3 (N627S +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2931095	NM_139276.3(STAT3):c.2050G>A (p.Gly684Arg)	STAT3 (G652R +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2930758	NM_139276.3(STAT3):c.1749-17C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2930303	NM_139276.3(STAT3):c.1597T>C (p.Leu533=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2930118	NM_139276.3(STAT3):c.1140-3C>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2930049	NM_139276.3(STAT3):c.432G>A (p.Leu144=)	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +2 more	GLikely benign
Select item 2929924	NM_139276.3(STAT3):c.646-8C>A	LOC130060888, STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2929814	NM_139276.3(STAT3):c.646-13G>T	LOC130060888, STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2928342	NM_139276.3(STAT3):c.208C>T (p.Arg70Cys)	STAT3 (R70C)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2927327	NM_139276.3(STAT3):c.666G>A (p.Ala222=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GBenign
Select item 2927296	NM_139276.3(STAT3):c.1234-12C>G	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2927224	NM_139276.3(STAT3):c.1682_1684del (p.Phe561del)	STAT3 (F541del +6 more)	Deletion (inframe_deletion)	STAT3 gain of function +1 more	GUncertain significance
Select item 2927103	NM_139276.3(STAT3):c.1110-14C>T	STAT3	Single nucleotide variant (synonymous variant +1 more)	STAT3 gain of function +1 more	GLikely benign
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 2925616	NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)	STAT3 (M394T +4 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GPathogenic
Select item 2925614	NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)	STAT3 (S610F +7 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GPathogenic
Select item 2925489	NM_139276.3(STAT3):c.1049+19A>T	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2924352	NM_139276.3(STAT3):c.273+12_273+20del	STAT3	Deletion (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
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 2924305	NM_139276.3(STAT3):c.1444A>G (p.Met482Val)	STAT3 (M450V +5 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2922389	NM_139276.3(STAT3):c.129-19T>A	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2922388	NM_139276.3(STAT3):c.129-18del	STAT3	Deletion (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2922242	NM_139276.3(STAT3):c.468+5T>C	STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance

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