"Ambry Genetics"[submitter] AND "EIF2B4"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488092	NM_001034116.2(EIF2B4):c.1564G>A (p.Asp522Asn)	EIF2B4, GTF3C2-AS2 (D521N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321604	NM_001034116.2(EIF2B4):c.1462G>A (p.Val488Ile)	EIF2B4, GTF3C2-AS2 (V488I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259322	NM_001034116.2(EIF2B4):c.1415C>A (p.Ala472Glu)	EIF2B4, GTF3C2-AS2 (A471E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248503	NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe)	EIF2B4, GTF3C2-AS2 (V491F +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062954	NM_001034116.2(EIF2B4):c.1165C>G (p.Pro389Ala)	EIF2B4, GTF3C2-AS2 (P374A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2271191	NM_001034116.2(EIF2B4):c.1145C>T (p.Pro382Leu)	EIF2B4, GTF3C2-AS2 (P381L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180337	NM_001034116.2(EIF2B4):c.1060C>T (p.Arg354Trp)	EIF2B4, GTF3C2-AS2 (R339W +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 335537	NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys)	EIF2B4, GTF3C2-AS2 (R320C +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 3054385	NM_001034116.2(EIF2B4):c.905C>T (p.Ala302Val)	EIF2B4, GTF3C2-AS2 (A107V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1443381	NM_001034116.2(EIF2B4):c.880G>A (p.Glu294Lys)	GTF3C2-AS2, EIF2B4 (E294K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269007	NM_001034116.2(EIF2B4):c.820C>T (p.His274Tyr)	EIF2B4, GTF3C2-AS2 (H243Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1516171	NM_001034116.2(EIF2B4):c.682G>A (p.Ala228Thr)	EIF2B4 (A249T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230710	NM_001034116.2(EIF2B4):c.641A>C (p.Tyr214Ser)	EIF2B4 (Y19S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 420063	NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	EIF2B4 (R208Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1925497	NM_001034116.2(EIF2B4):c.583T>A (p.Phe195Ile)	EIF2B4 (F164I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1044911	NM_001034116.2(EIF2B4):c.566A>G (p.Gln189Arg)	EIF2B4 (Q189R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2170785	NM_001034116.2(EIF2B4):c.427C>T (p.Arg143Cys)	EIF2B4 (R143C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2246287	NM_001034116.2(EIF2B4):c.413C>T (p.Pro138Leu)	EIF2B4 (P158L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 808717	NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys)	EIF2B4	Deletion (inframe_indel +2 more)	not provided +2 more	GUncertain significance
Select item 895582	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln)	EIF2B4 (R81Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3087899	NM_001034116.2(EIF2B4):c.314G>A (p.Arg105Gln)	EIF2B4 (R105Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 235807	NM_001034116.2(EIF2B4):c.302G>T (p.Arg101Leu)	EIF2B4 (R101L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445966	NM_001034116.2(EIF2B4):c.196G>A (p.Ala66Thr)	EIF2B4 (A66T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1925748	NM_001034116.2(EIF2B4):c.163_177del (p.Gly55_Glu59del)	EIF2B4	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2532093	NM_001034116.2(EIF2B4):c.83G>A (p.Gly28Glu)	EIF2B4 (G28E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383164	NM_001034116.2(EIF2B4):c.20C>G (p.Ala7Gly)	EIF2B4 (A7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 26