EIF4A3[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 2648396	NM_014740.4(EIF4A3):c.1152C>T (p.Asp384=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443614	NM_014740.4(EIF4A3):c.1130C>A (p.Ala377Asp)	EIF4A3 (A356D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648397	NM_014740.4(EIF4A3):c.1062C>T (p.Leu354=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747099	NM_014740.4(EIF4A3):c.984-10C>G	EIF4A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2208908	NM_014740.4(EIF4A3):c.974C>T (p.Ser325Leu)	EIF4A3 (S304L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1042398	NM_014740.4(EIF4A3):c.946C>T (p.Arg316Trp)	EIF4A3 (R316W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710510	NM_014740.4(EIF4A3):c.867G>A (p.Lys289=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3038939	NM_014740.4(EIF4A3):c.858C>T (p.Thr286=)	EIF4A3	Single nucleotide variant (synonymous variant)	EIF4A3-related disorder	GLikely benign
Select item 3047790	NM_014740.4(EIF4A3):c.810C>T (p.Asp270=)	EIF4A3	Single nucleotide variant (synonymous variant)	EIF4A3-related disorder	GLikely benign
Select item 101503	NM_014740.4(EIF4A3):c.809A>G (p.Asp270Gly)	EIF4A3 (D270G)	Single nucleotide variant (missense variant)	Richieri Costa-Pereira syndrome	GPathogenic
Select item 2545006	NM_014740.4(EIF4A3):c.713G>A (p.Arg238His)	EIF4A3 (R217H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726863	NM_014740.4(EIF4A3):c.587-5C>G	EIF4A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3052121	NM_014740.4(EIF4A3):c.555T>G (p.Val185=)	EIF4A3	Single nucleotide variant (synonymous variant)	EIF4A3-related disorder	GLikely benign
Select item 3275027	NM_014740.4(EIF4A3):c.514C>T (p.Arg172Cys)	EIF4A3 (R151C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479911	NM_014740.4(EIF4A3):c.430A>G (p.Thr144Ala)	EIF4A3 (T123A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787997	NM_014740.4(EIF4A3):c.252C>T (p.Ser84=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1302593	NM_014740.4(EIF4A3):c.163G>A (p.Ala55Thr)	EIF4A3 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723453	NM_014740.4(EIF4A3):c.132C>T (p.Gly44=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742795	NM_014740.4(EIF4A3):c.114C>A (p.Pro38=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787998	NM_014740.4(EIF4A3):c.90C>T (p.Thr30=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3087982	NM_014740.4(EIF4A3):c.74A>G (p.Lys25Arg)	EIF4A3 (K25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457182	NM_014740.4(EIF4A3):c.38C>T (p.Ala13Val)	EIF4A3 (A13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275026	NM_014740.4(EIF4A3):c.35C>T (p.Ser12Leu)	EIF4A3 (S12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087981	NM_014740.4(EIF4A3):c.25A>G (p.Thr9Ala)	EIF4A3 (T9A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722993	NM_014740.4(EIF4A3):c.24G>C (p.Ala8=)	EIF4A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327508	NM_014740.4(EIF4A3):c.10A>G (p.Thr4Ala)	EIF4A3 (T4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 101502	NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]	EIF4A3	Indel	Richieri Costa-Pereira syndrome	GPathogenic
Select item 101500	NM_014740.4(EIF4A3):c.-98_-81delinsTCGGCAGCGGCACAGCGAGG[13]	EIF4A3	Microsatellite	Richieri Costa-Pereira syndrome	GPathogenic
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2422574	NC_000017.10:g.(?_78109289)_(78272338_?)dup	CARD14, EIF4A3 +3 more	Duplication	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2422477	NC_000017.10:g.(?_78090747)_(78110154_?)dup	EIF4A3, GAA	Duplication	Glycogen storage disease, type II	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1434129	NC_000017.10:g.(?_78010462)_(78158057_?)dup	CARD14, CCDC40 +2 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1412377	NC_000017.10:g.(?_78032273)_(78163691_?)dup	CARD14, CCDC40 +2 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442849	GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3	CARD14, CCDC40 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 253980	GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3	CARD14, CCDC40 +4 more	Copy number gain	See cases	GUncertain significance
Select item 101501	NG_046916.1:g.5125_5142delinsTCGGCAGCGGCACAGCGAGG[12]	EIF4A3	Microsatellite	Richieri Costa-Pereira syndrome	GPathogenic

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Items: 54