"GeneDx"[submitter] AND "EIF3B"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 1226868	NM_001362792.2(EIF3B):c.-505+466C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294697	NM_001362792.2(EIF3B):c.-505+486C>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248882	NM_001362792.2(EIF3B):c.-504-438_-504-436dup	EIF3B, LOC129997810	Duplication (intron variant)	not provided	GBenign
Select item 1294679	NM_001037283.2(EIF3B):c.190T>C (p.Ser64Pro)	EIF3B, LOC129997811 (S64P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1266841	NM_001037283.2(EIF3B):c.435C>T (p.Asn145=)	EIF3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1281254	NM_001037283.2(EIF3B):c.487G>C (p.Val163Leu)	EIF3B (V163L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1251417	NM_001037283.2(EIF3B):c.500-39T>C	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264807	NM_001037283.2(EIF3B):c.871-204G>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290485	NM_001037283.2(EIF3B):c.1000-186T>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232137	NM_001037283.2(EIF3B):c.1158-67C>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265865	NM_001037283.2(EIF3B):c.1357-128C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224572	NM_001037283.2(EIF3B):c.1403+74del	EIF3B	Deletion (intron variant)	not provided	GBenign
Select item 1262789	NM_001037283.2(EIF3B):c.1403+69A>C	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270315	NM_001037283.2(EIF3B):c.1404-72C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288045	NM_001037283.2(EIF3B):c.1687+160C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267737	NM_001037283.2(EIF3B):c.1810+63C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222028	NM_001037283.2(EIF3B):c.1810+136C>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178320	NM_001037283.2(EIF3B):c.1810+208A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268292	NM_001037283.2(EIF3B):c.1811-21A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266303	NM_001037283.2(EIF3B):c.1889+124A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269189	NM_001037283.2(EIF3B):c.1890-199A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252637	NM_001037283.2(EIF3B):c.2154+101A>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290205	NM_001037283.2(EIF3B):c.2154+112A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274120	NM_001037283.2(EIF3B):c.2233-124A>G	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253802	GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4	CYP2W1, PSMG3 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 27