Related gene-specific medical variations for Gene (Select 6774) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 2582637	NM_139276.3(STAT3):c.1365G>T (p.Glu455Asp)	STAT3 (E423D +4 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 2577191	NM_139276.3(STAT3):c.735_744del (p.Arg246fs)	LOC130060888, STAT3 (R214fs +2 more)	Deletion (frameshift variant)	not specified	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 2436507	NM_139276.3(STAT3):c.711C>A (p.Asp237Glu)	LOC130060888, STAT3 (D205E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414714	NM_139276.3(STAT3):c.708G>A (p.Thr236=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GBenign
Select item 2189655	NM_139276.3(STAT3):c.680C>T (p.Ala227Val)	LOC130060888, STAT3 (A195V +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GUncertain significance
Select item 2186941	NM_139276.3(STAT3):c.765G>A (p.Pro255=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2174730	NM_139276.3(STAT3):c.562C>A (p.Leu188Met)	LOC130060889, STAT3 (L162M +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 2114430	NM_139276.3(STAT3):c.571A>C (p.Asn191His)	LOC130060889, STAT3 (N165H +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2073729	NM_139276.3(STAT3):c.586_590dup (p.Gln198fs)	LOC130060889, STAT3 (Q172fs +2 more)	Duplication (frameshift variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2053465	NM_139276.3(STAT3):c.685G>A (p.Glu229Lys)	LOC130060888, STAT3 (E197K +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2044185	NM_139276.3(STAT3):c.649A>T (p.Ile217Phe)	STAT3, LOC130060888 (I191F +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 2038976	NM_139276.3(STAT3):c.579G>C (p.Gln193His)	LOC130060889, STAT3 (Q161H +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 2005736	NM_139276.3(STAT3):c.652G>C (p.Val218Leu)	LOC130060888, STAT3 (V192L +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GLikely benign
Select item 1948153	NM_139276.3(STAT3):c.686A>G (p.Glu229Gly)	LOC130060888, STAT3 (E203G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1717866	NM_139276.3(STAT3):c.656G>C (p.Ser219Thr)	LOC130060888, STAT3 (S187T +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 1641316	NM_139276.3(STAT3):c.585G>A (p.Val195=)	LOC130060889, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 1565465	NM_139276.3(STAT3):c.558A>G (p.Gln186=)	LOC130060889, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 1435232	NM_139276.3(STAT3):c.594G>C (p.Gln198His)	LOC130060889, STAT3 (Q198H +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
Select item 1359957	NM_139276.3(STAT3):c.746T>C (p.Ile249Thr)	LOC130060888, STAT3 (I223T +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 1138240	NM_139276.3(STAT3):c.708G>C (p.Thr236=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 1110930	NM_139276.3(STAT3):c.651C>T (p.Ile217=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 1093733	NM_139276.3(STAT3):c.681G>A (p.Ala227=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 950289	NM_139276.3(STAT3):c.581C>T (p.Ser194Leu)	STAT3, LOC130060889 (S194L)	Single nucleotide variant (missense variant)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 892403	NM_139276.3(STAT3):c.-69C>T	LOC130060892, STAT3	Single nucleotide variant (5 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 853869	NM_139276.3(STAT3):c.785G>A (p.Arg262Gln)	LOC130060888, STAT3 (R262Q)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GUncertain significance
Select item 838586	NM_139276.3(STAT3):c.776G>A (p.Cys259Tyr)	LOC130060888, STAT3 (C259Y)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GUncertain significance
Select item 759890	NM_139276.3(STAT3):c.762C>G (p.Gly254=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737434	NM_139276.3(STAT3):c.646-7C>T	LOC130060888, STAT3	Single nucleotide variant (intron variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GLikely benign
Select item 654844	NM_139276.3(STAT3):c.779T>C (p.Leu260Pro)	LOC130060888, STAT3 (L260P +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GUncertain significance
Select item 636954	NM_139276.3(STAT3):c.551-1G>A	STAT3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 636871	NM_139276.3(STAT3):c.1540T>A (p.Ser514Thr)	STAT3 (S514T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636851	NM_139276.3(STAT3):c.1562G>A (p.Ser521Asn)	STAT3 (S521N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636714	NM_139276.3(STAT3):c.1139+1G>T	STAT3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 636585	NM_139276.3(STAT3):c.1843A>G (p.Lys615Glu)	STAT3 (K615E +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 390379	NM_139276.3(STAT3):c.646-18G>A	LOC130060888, STAT3	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 323249	NM_139276.3(STAT3):c.-55C>G	LOC130060892, STAT3	Single nucleotide variant (5 prime UTR variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 323247	NM_139276.3(STAT3):c.657T>C (p.Ser219=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 156280	NM_139276.3(STAT3):c.1140-2A>C	STAT3	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 36793	NM_139276.3(STAT3):c.711C>T (p.Asp237=)	STAT3, LOC130060888	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more	GBenign

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Links from Gene

Items: 53