LOC130060888[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
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 2939776	NM_139276.3(STAT3):c.797+17G>A	LOC130060888, STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 2944018	NM_139276.3(STAT3):c.797+13A>G	LOC130060888, STAT3	Single nucleotide variant (intron variant)	STAT3 gain of function +1 more	GLikely benign
Select item 853869	NM_139276.3(STAT3):c.785G>A (p.Arg262Gln)	LOC130060888, STAT3 (R262Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 838586	NM_139276.3(STAT3):c.776G>A (p.Cys259Tyr)	LOC130060888, STAT3 (C259Y)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 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 759890	NM_139276.3(STAT3):c.762C>G (p.Gly254=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2948783	NM_139276.3(STAT3):c.753C>A (p.Cys251Ter)	LOC130060888, STAT3 (C219* +2 more)	Single nucleotide variant (nonsense)	STAT3 gain of function +1 more	GUncertain significance
Select item 2944965	NM_139276.3(STAT3):c.750C>T (p.Ala250=)	STAT3, LOC130060888	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	GLikely benign
Select item 1359957	NM_139276.3(STAT3):c.746T>C (p.Ile249Thr)	LOC130060888, STAT3 (I223T +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +1 more	GLikely benign
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 2933042	NM_139276.3(STAT3):c.720G>A (p.Leu240=)	LOC130060888, STAT3	Single nucleotide variant (synonymous variant)	STAT3 gain of function +1 more	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 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 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 +2 more	GBenign
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 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 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 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 2053465	NM_139276.3(STAT3):c.685G>A (p.Glu229Lys)	LOC130060888, STAT3 (E197K +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
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 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 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 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 323247	NM_139276.3(STAT3):c.657T>C (p.Ser219=)	STAT3, LOC130060888	Single nucleotide variant (synonymous variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1717866	NM_139276.3(STAT3):c.656G>C (p.Ser219Thr)	LOC130060888, STAT3 (S187T +2 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +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 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 2044185	NM_139276.3(STAT3):c.649A>T (p.Ile217Phe)	LOC130060888, STAT3 (I191F +2 more)	Single nucleotide variant (missense variant)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant +1 more	GUncertain significance
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 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 390379	NM_139276.3(STAT3):c.646-18G>A	LOC130060888, STAT3	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Items: 37