EIF4B[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 2399366	NM_001417.7(EIF4B):c.155C>T (p.Ser52Leu)	EIF4B (S52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284259	NM_001417.7(EIF4B):c.266G>A (p.Arg89His)	EIF4B (R89H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510645	NM_001417.7(EIF4B):c.334A>G (p.Ile112Val)	EIF4B (I112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286108	NM_001417.7(EIF4B):c.392G>C (p.Ser131Thr)	EIF4B (S131T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298899	NM_001417.7(EIF4B):c.674G>A (p.Arg225Gln)	EIF4B (R225Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342133	NM_001417.7(EIF4B):c.968G>A (p.Arg323His)	EIF4B (R323H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264666	NM_001417.7(EIF4B):c.1091C>T (p.Ala364Val)	EIF4B (A325V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406141	NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln)	EIF4B (R376Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595049	NM_001417.7(EIF4B):c.1385C>T (p.Ser462Phe)	EIF4B (S423F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466740	NM_001417.7(EIF4B):c.1525G>T (p.Gly509Trp)	EIF4B (G509W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511489	NM_001417.7(EIF4B):c.1532A>G (p.Lys511Arg)	EIF4B (K516R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280044	NM_001417.7(EIF4B):c.1621G>A (p.Gly541Arg)	EIF4B (G541R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540358	NM_001417.7(EIF4B):c.1649G>A (p.Gly550Glu)	EIF4B (G550E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239608	NM_001417.7(EIF4B):c.1697A>G (p.Lys566Arg)	EIF4B (K571R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359042	NM_001417.7(EIF4B):c.1773C>G (p.Ser591Arg)	EIF4B (S591R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524935	NM_001417.7(EIF4B):c.1792G>C (p.Val598Leu)	EIF4B (V598L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523367	NM_001417.7(EIF4B):c.1816G>A (p.Gly606Arg)	EIF4B (G606R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 26