EIF4E3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 148629	GRCh38/hg38 3p13(chr3:70943620-71861889)x1	EIF4E3, FOXP1 +29 more	Copy number loss	See cases	GPathogenic
Select item 154117	GRCh38/hg38 3p13(chr3:71124507-71892267)x3	EIF4E3, FOXP1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 3088004	NM_001134651.2(EIF4E3):c.661C>T (p.Arg221Cys)	EIF4E3 (R115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225248	NM_001134651.2(EIF4E3):c.523G>A (p.Val175Ile)	EIF4E3 (V175I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088003	NM_001134651.2(EIF4E3):c.500G>A (p.Ser167Asn)	EIF4E3 (S167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275038	NM_001134651.2(EIF4E3):c.466G>A (p.Ala156Thr)	EIF4E3 (A156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275042	NM_001134651.2(EIF4E3):c.421G>C (p.Glu141Gln)	EIF4E3 (E141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275040	NM_001134651.2(EIF4E3):c.354G>C (p.Glu118Asp)	EIF4E3 (E118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348175	NM_001134651.2(EIF4E3):c.152C>G (p.Ser51Trp)	EIF4E3 (S51W)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3088002	NM_001134651.2(EIF4E3):c.124C>T (p.Pro42Ser)	EIF4E3 (P42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088001	NM_001134651.2(EIF4E3):c.118C>G (p.Leu40Val)	EIF4E3 (L40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603500	NM_001134651.2(EIF4E3):c.74C>T (p.Ala25Val)	EIF4E3 (A25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275041	NM_001134651.2(EIF4E3):c.64G>A (p.Ala22Thr)	EIF4E3 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275039	NM_001134651.2(EIF4E3):c.41G>T (p.Arg14Leu)	EIF4E3 (R14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512767	NM_001134651.2(EIF4E3):c.29C>G (p.Pro10Arg)	EIF4E3 (P10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516048	NM_001134651.2(EIF4E3):c.17C>T (p.Ala6Val)	EIF4E3 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327538	NM_001134651.2(EIF4E3):c.13C>T (p.Pro5Ser)	EIF4E3 (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248818	NM_018971.3(GPR27):c.18G>T (p.Glu6Asp)	EIF4E3, GPR27 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282366	NM_018971.3(GPR27):c.20C>T (p.Pro7Leu)	EIF4E3, GPR27 (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383384	NM_018971.3(GPR27):c.136G>A (p.Glu46Lys)	EIF4E3, GPR27 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619983	NM_018971.3(GPR27):c.202G>A (p.Ala68Thr)	EIF4E3, GPR27 (A68T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282364	NM_018971.3(GPR27):c.232G>A (p.Ala78Thr)	EIF4E3, GPR27 (A78T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101697	NM_018971.3(GPR27):c.250G>T (p.Ala84Ser)	EIF4E3, GPR27 (A84S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614316	NM_018971.3(GPR27):c.268C>G (p.Pro90Ala)	EIF4E3, GPR27 (P90A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555393	NM_018971.3(GPR27):c.495C>G (p.Asp165Glu)	EIF4E3, GPR27 (D165E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517350	NM_018971.3(GPR27):c.530C>A (p.Pro177His)	EIF4E3, GPR27 (P177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260301	NM_018971.3(GPR27):c.656T>C (p.Leu219Pro)	EIF4E3, GPR27 (L219P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471634	NM_018971.3(GPR27):c.691G>A (p.Gly231Ser)	EIF4E3, GPR27 (G231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606421	NM_018971.3(GPR27):c.718G>A (p.Ala240Thr)	EIF4E3, GPR27 (A240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062672	GRCh37/hg19 3p13(chr3:70583776-72793789)x1	EIF4E3, FOXP1 +4 more	Copy number loss	not specified	GPathogenic
Select item 2685085	GRCh37/hg19 3p13(chr3:71707206-72157556)x1	EIF4E3, GPR27 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814454	GRCh37/hg19 3p13(chr3:71665558-72020026)x3	EIF4E3, PROK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562782	GRCh37/hg19 3p13(chr3:70618611-72399570)x1	PROK2, GPR27 +3 more	Copy number loss	not provided	GPathogenic
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 394130	GRCh37/hg19 3p13(chr3:71802608-71804290)x3	EIF4E3, GPR27	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47