EIF3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
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 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 155196	GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3	BRAT1, CHST12 +63 more	Copy number gain	See cases	GLikely benign
Select item 57287	GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1	CHST12, EIF3B +37 more	Copy number loss	See cases	GUncertain significance
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 2657229	NM_001037283.2(EIF3B):c.15G>C (p.Glu5Asp)	EIF3B (E5D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 787313	NM_001037283.2(EIF3B):c.72G>A (p.Pro24=)	EIF3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2364048	NM_001037283.2(EIF3B):c.80A>C (p.Glu27Ala)	EIF3B (E27A)	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 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 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 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 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 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 2356088	NM_001037283.2(EIF3B):c.208C>T (p.Pro70Ser)	EIF3B (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486686	NM_001037283.2(EIF3B):c.220G>T (p.Ala74Ser)	EIF3B (A74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233293	NM_001037283.2(EIF3B):c.238C>A (p.Pro80Thr)	EIF3B (P80T)	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 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 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 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 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 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 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 2606811	NM_001037283.2(EIF3B):c.370G>A (p.Val124Met)	EIF3B (V124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530247	NM_001037283.2(EIF3B):c.396G>C (p.Glu132Asp)	EIF3B (E132D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528624	NM_001037283.2(EIF3B):c.398G>A (p.Gly133Asp)	EIF3B (G133D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493080	NM_001037283.2(EIF3B):c.407C>T (p.Ala136Val)	EIF3B (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347330	NM_001037283.2(EIF3B):c.421C>T (p.Arg141Trp)	EIF3B (R141W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2242712	NM_001037283.2(EIF3B):c.436G>T (p.Gly146Cys)	EIF3B (G146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458884	NM_001037283.2(EIF3B):c.446A>G (p.Asp149Gly)	EIF3B (D149G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409753	NM_001037283.2(EIF3B):c.466C>T (p.Pro156Ser)	EIF3B (P156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237324	NM_001037283.2(EIF3B):c.467C>A (p.Pro156His)	EIF3B (P156H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3087945	NM_001037283.2(EIF3B):c.527G>A (p.Arg176Gln)	EIF3B (R176Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770933	NM_001037283.2(EIF3B):c.549C>T (p.Ile183=)	EIF3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338640	NM_001037283.2(EIF3B):c.744G>C (p.Lys248Asn)	EIF3B (K248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348861	NM_001037283.2(EIF3B):c.832G>A (p.Glu278Lys)	EIF3B (E6K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264807	NM_001037283.2(EIF3B):c.871-204G>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2409906	NM_001037283.2(EIF3B):c.944G>A (p.Arg315His)	EIF3B (R315H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558751	NM_001037283.2(EIF3B):c.957C>G (p.Phe319Leu)	EIF3B (F319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546478	NM_001037283.2(EIF3B):c.967G>C (p.Val323Leu)	EIF3B (V323L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087947	NM_001037283.2(EIF3B):c.986T>C (p.Ile329Thr)	EIF3B (I329T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290485	NM_001037283.2(EIF3B):c.1000-186T>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712468	NM_001037283.2(EIF3B):c.1000-5T>C	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761214	NM_001037283.2(EIF3B):c.1002A>G (p.Arg334=)	EIF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768131	NM_001037283.2(EIF3B):c.1128T>C (p.Val376=)	EIF3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2300028	NM_001037283.2(EIF3B):c.1143C>A (p.Phe381Leu)	EIF3B (F381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232137	NM_001037283.2(EIF3B):c.1158-67C>A	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362889	NM_001037283.2(EIF3B):c.1190C>T (p.Thr397Met)	EIF3B (T125M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492359	NM_001037283.2(EIF3B):c.1201C>T (p.Pro401Ser)	EIF3B (P129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773207	NM_001037283.2(EIF3B):c.1257C>T (p.His419=)	EIF3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2620221	NM_001037283.2(EIF3B):c.1262A>G (p.Glu421Gly)	EIF3B (E421G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265865	NM_001037283.2(EIF3B):c.1357-128C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2543327	NM_001037283.2(EIF3B):c.1360A>G (p.Met454Val)	EIF3B (M454V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590807	NM_001037283.2(EIF3B):c.1401A>G (p.Ile467Met)	EIF3B (I195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3087936	NM_001037283.2(EIF3B):c.1487T>C (p.Met496Thr)	EIF3B (M224T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254149	NM_001037283.2(EIF3B):c.1559A>G (p.Gln520Arg)	EIF3B (Q248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288045	NM_001037283.2(EIF3B):c.1687+160C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768132	NM_001037283.2(EIF3B):c.1743C>T (p.His581=)	EIF3B	Single nucleotide variant (synonymous 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 2657230	NM_001037283.2(EIF3B):c.1818C>T (p.Phe606=)	EIF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720954	NM_001037283.2(EIF3B):c.1884G>A (p.Leu628=)	EIF3B	Single nucleotide variant (synonymous 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 2243448	NM_001037283.2(EIF3B):c.1919C>G (p.Thr640Ser)	EIF3B (T640S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087937	NM_001037283.2(EIF3B):c.1942A>G (p.Ile648Val)	EIF3B (I648V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768133	NM_001037283.2(EIF3B):c.1944C>T (p.Ile648=)	EIF3B	Single nucleotide variant (synonymous 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 3087939	NM_001037283.2(EIF3B):c.2252G>A (p.Arg751His)	EIF3B (R479H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318623	NM_001037283.2(EIF3B):c.2258T>C (p.Met753Thr)	EIF3B (M481T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087940	NM_001037283.2(EIF3B):c.2282G>A (p.Arg761Gln)	EIF3B (R489Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225333	NM_001037283.2(EIF3B):c.2377G>A (p.Asp793Asn)	EIF3B (D793N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213226	NM_001037283.2(EIF3B):c.2426C>T (p.Pro809Leu)	EIF3B (P537L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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