Related gene-specific medical variations for Gene (Select 8662) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274998	NM_001037283.2(EIF3B):c.159G>C (p.Glu53Asp)	EIF3B, LOC129997811 (E53D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274990	NM_001037283.2(EIF3B):c.311A>C (p.Gln104Pro)	EIF3B, LOC129997812 (Q104P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087944	NM_001037283.2(EIF3B):c.355A>G (p.Ser119Gly)	EIF3B, LOC129997812 (S119G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087943	NM_001037283.2(EIF3B):c.296C>T (p.Pro99Leu)	EIF3B, LOC129997812 (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087942	NM_001037283.2(EIF3B):c.289G>A (p.Ala97Thr)	EIF3B, LOC129997812 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087938	NM_001037283.2(EIF3B):c.200G>C (p.Arg67Thr)	EIF3B, LOC129997811 (R67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685229	GRCh37/hg19 7p22.3(chr7:2360344-2433729)x1	EIF3B	Copy number loss	not provided	GUncertain significance
Select item 2460465	NM_001037283.2(EIF3B):c.358C>T (p.Arg120Trp)	EIF3B, LOC129997812 (R120W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460058	NM_001037283.2(EIF3B):c.143C>G (p.Thr48Ser)	EIF3B, LOC129997811 (T48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386445	NM_001037283.2(EIF3B):c.278C>T (p.Pro93Leu)	EIF3B, LOC129997812 (P93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313641	NM_001037283.2(EIF3B):c.124G>T (p.Ala42Ser)	EIF3B, LOC129997811 (A42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312599	NM_001037283.2(EIF3B):c.299C>G (p.Pro100Arg)	EIF3B, LOC129997812 (P100R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275879	NM_001037283.2(EIF3B):c.201G>C (p.Arg67Ser)	EIF3B, LOC129997811 (R67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253430	NM_001037283.2(EIF3B):c.148G>A (p.Ala50Thr)	EIF3B, LOC129997811 (A50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244758	NM_001037283.2(EIF3B):c.299C>A (p.Pro100His)	EIF3B, LOC129997812 (P100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1248882	NM_001362792.2(EIF3B):c.-504-438_-504-436dup	EIF3B, LOC129997810	Duplication (intron variant)	not provided	GBenign