ClinVar for Gene (Select 8662) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275001	NM_001037283.2(EIF3B):c.1298A>G (p.His433Arg)	EIF3B (H161R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275000	NM_001037283.2(EIF3B):c.417A>T (p.Glu139Asp)	EIF3B (E139D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274999	NM_001037283.2(EIF3B):c.1610C>T (p.Thr537Ile)	EIF3B (T265I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3274997	NM_001037283.2(EIF3B):c.1999G>A (p.Val667Ile)	EIF3B (V395I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274996	NM_001037283.2(EIF3B):c.2176A>C (p.Lys726Gln)	EIF3B (K726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274995	NM_001037283.2(EIF3B):c.11C>T (p.Ala4Val)	EIF3B (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274994	NM_001037283.2(EIF3B):c.2183C>T (p.Ser728Phe)	EIF3B (S456F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274993	NM_001037283.2(EIF3B):c.2309A>T (p.Glu770Val)	EIF3B (E770V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274992	NM_001037283.2(EIF3B):c.98G>C (p.Gly33Ala)	EIF3B (G33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274991	NM_001037283.2(EIF3B):c.1723A>G (p.Ser575Gly)	EIF3B (S303G +1 more)	Single nucleotide variant (missense variant)	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 3274989	NM_001037283.2(EIF3B):c.416A>C (p.Glu139Ala)	EIF3B (E139A)	Single nucleotide variant (missense variant +1 more)	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 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 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 3087941	NM_001037283.2(EIF3B):c.2440G>A (p.Glu814Lys)	EIF3B (E542K +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 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 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 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 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 3062980	GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3	AMZ1, BRAT1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062963	GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3	AMZ1, BRAT1 +11 more	Copy number gain	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 2684477	GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684476	GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3	AMZ1, BRAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684474	GRCh37/hg19 7p22.3(chr7:2275328-2408829)x3	EIF3B, MRM2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684473	GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3	BRAT1, CHST12 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657230	NM_001037283.2(EIF3B):c.1818C>T (p.Phe606=)	EIF3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 1808366	GRCh37/hg19 7p22.3(chr7:2262524-2433729)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527332	GRCh37/hg19 7p22.3(chr7:2319788-2700303)	BRAT1, CHST12 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1340052	GRCh37/hg19 7p22.3(chr7:1871564-2430156)x3	EIF3B, MAD1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1294697	NM_001362792.2(EIF3B):c.-505+486C>G	EIF3B	Single nucleotide variant (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 1290485	NM_001037283.2(EIF3B):c.1000-186T>A	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 1288045	NM_001037283.2(EIF3B):c.1687+160C>T	EIF3B	Single nucleotide variant (intron variant)	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 1274120	NM_001037283.2(EIF3B):c.2233-124A>G	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 1269189	NM_001037283.2(EIF3B):c.1890-199A>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 1267737	NM_001037283.2(EIF3B):c.1810+63C>T	EIF3B	Single nucleotide variant (intron variant)	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 1266303	NM_001037283.2(EIF3B):c.1889+124A>G	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 1264807	NM_001037283.2(EIF3B):c.871-204G>A	EIF3B	Single nucleotide variant (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 1252637	NM_001037283.2(EIF3B):c.2154+101A>T	EIF3B	Single nucleotide variant (intron variant)	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 1248882	NM_001362792.2(EIF3B):c.-504-438_-504-436dup	EIF3B, LOC129997810	Duplication (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 1226868	NM_001362792.2(EIF3B):c.-505+466C>T	EIF3B	Single nucleotide variant (intron variant)	not provided	GBenign

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