EIF4EBP2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance
Select item 2305609	NM_004096.5(EIF4EBP2):c.5C>T (p.Ser2Phe)	EIF4EBP2, LOC130004008 (S2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777852	NM_004096.5(EIF4EBP2):c.17G>A (p.Gly6Asp)	EIF4EBP2, LOC130004008 (G6D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715427	NM_004096.5(EIF4EBP2):c.21C>T (p.Ser7=)	EIF4EBP2, LOC130004008	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088008	NM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr)	EIF4EBP2 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280719	NM_004096.5(EIF4EBP2):c.95A>C (p.His32Pro)	EIF4EBP2 (H32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088007	NM_004096.5(EIF4EBP2):c.161A>T (p.Tyr54Phe)	EIF4EBP2 (Y54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230513	NM_004096.5(EIF4EBP2):c.212C>T (p.Pro71Leu)	EIF4EBP2 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523302	NM_004096.5(EIF4EBP2):c.284T>G (p.Val95Gly)	EIF4EBP2 (V95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360398	NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser)	EIF4EBP2 (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1460012	NC_000010.10:g.(?_72183370)_(72201347_?)del	EIF4EBP2, NODAL	Deletion	Heterotaxy, visceral, 5, autosomal	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1022610	NC_000010.10:g.(?_72179670)_(72360658_?)dup	EIF4EBP2, NODAL +2 more	Duplication	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 27