EIF4EBP3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ANKHD1, ANKHD1-DT +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2388992	NM_003732.3(EIF4EBP3):c.64A>C (p.Thr22Pro)	EIF4EBP3, ANKHD1-EIF4EBP3 (T22P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242250	NM_003732.3(EIF4EBP3):c.125G>A (p.Arg42Gln)	ANKHD1-EIF4EBP3, EIF4EBP3 (R42Q)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476991	NM_003732.3(EIF4EBP3):c.126A>C (p.Arg42=)	ANKHD1-EIF4EBP3, EIF4EBP3 (K2568Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224332	NM_003732.3(EIF4EBP3):c.195C>T (p.Pro65=)	ANKHD1-EIF4EBP3, EIF4EBP3 (R2591W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237325	NM_003732.3(EIF4EBP3):c.197G>A (p.Gly66Glu)	ANKHD1-EIF4EBP3, EIF4EBP3 (G66E)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483070	NM_003732.3(EIF4EBP3):c.224T>C (p.Leu75Pro)	ANKHD1-EIF4EBP3, EIF4EBP3 (L75P)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2354989	NM_003732.3(EIF4EBP3):c.251A>T (p.Gln84Leu)	ANKHD1-EIF4EBP3, EIF4EBP3 (Q84L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558174	NM_003732.3(EIF4EBP3):c.255G>A (p.Glu85=)	ANKHD1-EIF4EBP3, EIF4EBP3 (D2611N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	HSPA9, IGIP +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 25