ClinVar for MedGen (Select 863232) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024532	NM_139276.3(STAT3):c.1333G>A (p.Val445Met)	STAT3 (V413M +4 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease	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 2443043	NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)	STAT3 (R303Q +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +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 1349527	NM_139276.3(STAT3):c.551-1G>C	STAT3	Single nucleotide variant (splice acceptor variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1233827	NM_139276.3(STAT3):c.1233+43C>G	STAT3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1027740	NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr)	STAT3 (A345T +4 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GUncertain significance
Select item 977089	NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn)	STAT3 (K658N)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GLikely pathogenic
Select item 976227	NM_139276.3(STAT3):c.1310A>T (p.His437Leu)	STAT3 (H437L)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GLikely pathogenic
Select item 973671	NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg)	STAT3 (K658R)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GLikely pathogenic
Select item 930424	NM_139276.3(STAT3):c.1233+19C>T	STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +2 more	GConflicting classifications of pathogenicity
Select item 827744	NM_139276.3(STAT3):c.986T>G (p.Met329Arg)	STAT3 (M329R)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease +3 more	GConflicting classifications of pathogenicity
Select item 722798	NM_139276.3(STAT3):c.2049C>T (p.Phe683=)	STAT3	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 546794	NM_139276.3(STAT3):c.373C>G (p.Gln125Glu)	STAT3 (Q125E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 421171	NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	STAT3 (P715L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 224850	NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr)	STAT3 (A703T +9 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 224849	NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys)	STAT3 (N420K +4 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
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 224847	NM_139276.3(STAT3):c.1057G>T (p.Val353Phe)	STAT3 (V353F +2 more)	Single nucleotide variant (missense variant +1 more)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 224846	NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)	STAT3 (R152W +1 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more	GPathogenic
Select item 224845	NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile)	STAT3 (T663I +7 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease +1 more	GPathogenic/Likely pathogenic
Select item 224844	NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)	STAT3 (G421R +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 224843	NM_139276.3(STAT3):c.1032G>C (p.Gln344His)	STAT3 (Q344H +2 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 165294	NM_139276.3(STAT3):c.1601-10dup	STAT3	Duplication	STAT3 gain of function +5 more	GBenign
Select item 144032	NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn)	STAT3 (K658N +7 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 144031	NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys)	STAT3 (N646K +7 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 144030	NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg)	STAT3 (K392R +4 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease	GPathogenic
Select item 36784	NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)	STAT3 (E415K +4 more)	Single nucleotide variant (missense variant)	STAT3-related early-onset multisystem autoimmune disease +1 more	GPathogenic/Likely pathogenic
Select item 18306	NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)	STAT3 (R423Q +4 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 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

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Items: 31