EIF4E[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 2618462	NM_001968.5(EIF4E):c.581T>C (p.Val194Ala)	EIF4E (V225A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781716	NM_001968.5(EIF4E):c.540-8dup	EIF4E	Duplication (intron variant)	not provided	GBenign
Select item 769289	NM_001968.5(EIF4E):c.540-8del	EIF4E	Deletion (intron variant)	not provided	GBenign
Select item 2555665	NM_001968.5(EIF4E):c.502A>T (p.Thr168Ser)	EIF4E (T168S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720923	NM_001968.5(EIF4E):c.399+548A>G	EIF4E (M139V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3059002	NM_001968.5(EIF4E):c.375C>T (p.Asp125=)	EIF4E	Single nucleotide variant (synonymous variant)	EIF4E-related disorder	GBenign
Select item 2519517	NM_001968.5(EIF4E):c.326G>T (p.Arg109Leu)	EIF4E (R109L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325901	NM_001968.5(EIF4E):c.187A>G (p.Ile63Val)	EIF4E (I83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087993	NM_001968.5(EIF4E):c.98A>G (p.His33Arg)	EIF4E (H33R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273284	NM_001968.5(EIF4E):c.85G>A (p.Ala29Thr)	EIF4E (A29T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061014	NM_001968.5(EIF4E):c.18+120T>C	EIF4E	Single nucleotide variant (5 prime UTR variant +1 more)	EIF4E-related disorder	GBenign
Select item 3057066	NM_001968.5(EIF4E):c.18+10G>T	EIF4E	Single nucleotide variant (5 prime UTR variant +1 more)	EIF4E-related disorder	GLikely benign
Select item 2490772	NM_001968.5(EIF4E):c.13G>A (p.Glu5Lys)	EIF4E (E5K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 40089	NC_000004.12:g.98929153dup	EIF4E	Duplication	Autism, susceptibility to, 19	Grisk factor
Select item 3062768	GRCh37/hg19 4q23(chr4:99769895-99816638)x3	EIF4E	Copy number gain	not specified	GUncertain significance
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527113	GRCh37/hg19 4q23(chr4:99835828-100089147)	ADH4, ADH5 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 689049	GRCh37/hg19 4q23(chr4:99769895-99810740)x3	EIF4E	Copy number gain	not provided	GUncertain significance
Select item 687451	GRCh37/hg19 4q23(chr4:99769895-99811279)x3	EIF4E	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 442315	GRCh37/hg19 4q22.3-23(chr4:97419923-99923880)x3	EIF4E, METAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441914	GRCh37/hg19 4q23(chr4:99288284-99846320)x3	EIF4E, RAP1GDS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 35