CPEB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524187	t(1;4)(p21;p11)dn	CPEB2, ST6GALNAC3	Translocation	not specified	GUncertain significance
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 3076634	NM_001177382.2(CPEB2):c.29A>G (p.Gln10Arg)	CPEB2 (Q10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242479	NM_001177382.2(CPEB2):c.50G>A (p.Ser17Asn)	CPEB2 (S17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380726	NM_001177382.2(CPEB2):c.80C>T (p.Ala27Val)	CPEB2 (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269164	NM_001177382.2(CPEB2):c.197C>A (p.Ser66Tyr)	CPEB2 (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540171	NM_001177382.2(CPEB2):c.203C>T (p.Pro68Leu)	CPEB2 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365144	NM_001177382.2(CPEB2):c.208G>A (p.Gly70Ser)	CPEB2 (G70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402552	NM_001177382.2(CPEB2):c.209G>C (p.Gly70Ala)	CPEB2 (G70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391060	NM_001177382.2(CPEB2):c.218C>A (p.Ala73Glu)	CPEB2 (A73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229261	NM_001177382.2(CPEB2):c.218C>G (p.Ala73Gly)	CPEB2 (A73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076631	NM_001177382.2(CPEB2):c.223A>C (p.Ser75Arg)	CPEB2 (S75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392952	NM_001177382.2(CPEB2):c.223A>T (p.Ser75Cys)	CPEB2 (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226434	NM_001177382.2(CPEB2):c.235G>C (p.Ala79Pro)	CPEB2 (A79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076633	NM_001177382.2(CPEB2):c.262G>T (p.Ala88Ser)	CPEB2 (A88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269165	NM_001177382.2(CPEB2):c.269A>T (p.Gln90Leu)	CPEB2 (Q90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076635	NM_001177382.2(CPEB2):c.338C>T (p.Ala113Val)	CPEB2 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285541	NM_001177382.2(CPEB2):c.359A>G (p.Asp120Gly)	CPEB2 (D120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277198	NM_001177382.2(CPEB2):c.428G>C (p.Ser143Thr)	CPEB2 (S143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269156	NM_001177382.2(CPEB2):c.473G>A (p.Cys158Tyr)	CPEB2, LOC129992277 (C158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611730	NM_001177382.2(CPEB2):c.495C>A (p.Asp165Glu)	CPEB2, LOC129992277 (D165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024708	NM_001177382.2(CPEB2):c.509AGC[5] (p.Gln173_Leu174insGln)	CPEB2, LOC129992277	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 3076636	NM_001177382.2(CPEB2):c.527G>A (p.Ser176Asn)	CPEB2, LOC129992277 (S176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352386	NM_001177382.2(CPEB2):c.531G>C (p.Gln177His)	CPEB2, LOC129992277 (Q177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346528	NM_001177382.2(CPEB2):c.548G>A (p.Ser183Asn)	CPEB2, LOC129992277 (S183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228361	NM_001177382.2(CPEB2):c.599C>T (p.Pro200Leu)	CPEB2, LOC129992277 (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548320	NM_001177382.2(CPEB2):c.622T>C (p.Phe208Leu)	CPEB2, LOC129992277 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362352	NM_001177382.2(CPEB2):c.629C>T (p.Pro210Leu)	CPEB2, LOC129992277 (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312153	NM_001177382.2(CPEB2):c.635C>T (p.Pro212Leu)	CPEB2, LOC129992277 (P212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076637	NM_001177382.2(CPEB2):c.652C>T (p.Leu218Phe)	CPEB2, LOC129992277 (L218F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568804	NM_001177382.2(CPEB2):c.695C>T (p.Pro232Leu)	CPEB2, LOC129992277 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269167	NM_001177382.2(CPEB2):c.712C>G (p.Leu238Val)	CPEB2, LOC129992277 (L238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076638	NM_001177382.2(CPEB2):c.719A>T (p.His240Leu)	CPEB2, LOC129992277 (H240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392187	NM_001177382.2(CPEB2):c.781C>G (p.Leu261Val)	CPEB2 (L261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619619	NM_001177382.2(CPEB2):c.814C>T (p.Pro272Ser)	CPEB2, LOC129992278 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364808	NM_001177382.2(CPEB2):c.833G>A (p.Gly278Asp)	CPEB2, LOC129992278 (G278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076639	NM_001177382.2(CPEB2):c.841A>G (p.Ser281Gly)	CPEB2, LOC129992278 (S281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322896	NM_001177382.2(CPEB2):c.844C>A (p.Pro282Thr)	CPEB2, LOC129992278 (P282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076640	NM_001177382.2(CPEB2):c.848G>T (p.Arg283Leu)	CPEB2, LOC129992278 (R283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076641	NM_001177382.2(CPEB2):c.856C>G (p.Pro286Ala)	CPEB2, LOC129992278 (P286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412457	NM_001177382.2(CPEB2):c.859G>T (p.Ala287Ser)	CPEB2, LOC129992278 (A287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076642	NM_001177382.2(CPEB2):c.863C>T (p.Ala288Val)	CPEB2, LOC129992278 (A288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379189	NM_001177382.2(CPEB2):c.893A>C (p.Asn298Thr)	CPEB2, LOC129992278 (N298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287054	NM_001177382.2(CPEB2):c.905C>T (p.Ala302Val)	CPEB2, LOC129992278 (A302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076643	NM_001177382.2(CPEB2):c.919G>A (p.Val307Met)	CPEB2, LOC129992278 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299086	NM_001177382.2(CPEB2):c.949C>T (p.Pro317Ser)	CPEB2, LOC129992278 (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269160	NM_001177382.2(CPEB2):c.959C>G (p.Pro320Arg)	CPEB2 (P320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535226	NM_001177382.2(CPEB2):c.961C>G (p.Leu321Val)	CPEB2 (L321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269155	NM_001177382.2(CPEB2):c.962T>G (p.Leu321Arg)	CPEB2 (L321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269158	NM_001177382.2(CPEB2):c.1073G>A (p.Gly358Asp)	CPEB2, LOC129992279 (G358D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076623	NM_001177382.2(CPEB2):c.1081C>A (p.Pro361Thr)	CPEB2, LOC129992279 (P361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396758	NM_001177382.2(CPEB2):c.1090G>C (p.Gly364Arg)	CPEB2, LOC129992279 (G364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313616	NM_001177382.2(CPEB2):c.1100G>A (p.Gly367Glu)	CPEB2, LOC129992279 (G367E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252407	NM_001177382.2(CPEB2):c.1103G>C (p.Gly368Ala)	CPEB2, LOC129992279 (G368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282888	NM_001177382.2(CPEB2):c.1144C>T (p.Pro382Ser)	CPEB2, LOC129992279 (P382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276470	NM_001177382.2(CPEB2):c.1181C>G (p.Pro394Arg)	CPEB2, LOC129992279 (P394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301603	NM_001177382.2(CPEB2):c.1185G>C (p.Gln395His)	CPEB2, LOC129992279 (Q395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305187	NM_001177382.2(CPEB2):c.1186C>G (p.Gln396Glu)	CPEB2, LOC129992279 (Q396E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076624	NM_001177382.2(CPEB2):c.1225C>T (p.Pro409Ser)	CPEB2, LOC129992279 (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076625	NM_001177382.2(CPEB2):c.1247A>C (p.Gln416Pro)	CPEB2, LOC129992279 (Q416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076626	NM_001177382.2(CPEB2):c.1248G>C (p.Gln416His)	CPEB2, LOC129992279 (Q416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251974	NM_001177382.2(CPEB2):c.1331A>C (p.Asp444Ala)	CPEB2 (D444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076627	NM_001177382.2(CPEB2):c.1367C>A (p.Ser456Tyr)	CPEB2 (S456Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465267	NM_001177382.2(CPEB2):c.1391G>C (p.Ser464Thr)	CPEB2 (S464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232681	NM_001177382.2(CPEB2):c.1393T>C (p.Phe465Leu)	CPEB2 (F465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291512	NM_001177382.2(CPEB2):c.1436C>T (p.Pro479Leu)	CPEB2 (P479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541753	NM_001177382.2(CPEB2):c.1457G>A (p.Gly486Asp)	CPEB2 (G486D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467421	NM_001177382.2(CPEB2):c.1471C>T (p.Pro491Ser)	CPEB2 (P491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235117	NM_001177382.2(CPEB2):c.1496C>T (p.Pro499Leu)	CPEB2 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375955	NM_001177382.2(CPEB2):c.1513A>C (p.Met505Leu)	CPEB2 (M505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269162	NM_001177382.2(CPEB2):c.1528C>G (p.Gln510Glu)	CPEB2 (Q510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221233	NM_001177382.2(CPEB2):c.1553C>T (p.Pro518Leu)	CPEB2 (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289584	NM_001177382.2(CPEB2):c.1562C>T (p.Pro521Leu)	CPEB2 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076628	NM_001177382.2(CPEB2):c.1678T>A (p.Ser560Thr)	C1QTNF7-AS1, CPEB2 (S560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485987	NM_001177382.2(CPEB2):c.1704T>G (p.Ser568Arg)	C1QTNF7-AS1, CPEB2 (S568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271840	NM_001177382.2(CPEB2):c.1755T>G (p.His585Gln)	C1QTNF7-AS1, CPEB2 (H585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348893	NM_001177382.2(CPEB2):c.1762A>G (p.Thr588Ala)	C1QTNF7-AS1, CPEB2 (T588A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269163	NM_001177382.2(CPEB2):c.1765G>A (p.Gly589Arg)	C1QTNF7-AS1, CPEB2 (G589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076629	NM_001177382.2(CPEB2):c.1856G>A (p.Arg619His)	C1QTNF7-AS1, CPEB2 (R619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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