23316[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2504407	NM_015267.4(CUX2):c.-4C>T	CUX2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2712765	NM_015267.4(CUX2):c.11A>G (p.Asn4Ser)	CUX2 (N4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643290	NM_015267.4(CUX2):c.17G>T (p.Gly6Val)	CUX2 (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3040305	NM_015267.4(CUX2):c.63+9G>C	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 771184	NM_015267.4(CUX2):c.64-10A>T	CUX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1694674	NM_015267.4(CUX2):c.78C>T (p.Ser26=)	CUX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2230391	NM_015267.4(CUX2):c.79G>A (p.Val27Ile)	CUX2 (V27I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1175839	NM_015267.4(CUX2):c.79G>T (p.Val27Phe)	CUX2 (V27F)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 67 +1 more	GConflicting classifications of pathogenicity
Select item 713817	NM_015267.4(CUX2):c.81C>T (p.Val27=)	CUX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2313688	NM_015267.4(CUX2):c.82G>T (p.Ala28Ser)	CUX2 (A28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3337981	NM_015267.4(CUX2):c.100C>T (p.Arg34Trp)	CUX2 (R34W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1342530	NM_015267.4(CUX2):c.137T>C (p.Ile46Thr)	CUX2 (I46T)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2520939	NM_015267.4(CUX2):c.145C>T (p.Arg49Cys)	CUX2 (R49C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2585334	NM_015267.4(CUX2):c.167T>C (p.Val56Ala)	CUX2 (V56A)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2672521	NM_015267.4(CUX2):c.193G>C (p.Ala65Pro)	CUX2 (A3P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371796	NM_015267.4(CUX2):c.199G>A (p.Val67Ile)	CUX2 (V5I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314859	NM_015267.4(CUX2):c.205A>C (p.Lys69Gln)	CUX2 (K69Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627774	NM_015267.4(CUX2):c.220G>A (p.Glu74Lys)	CUX2 (E12K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 1806080	NM_015267.4(CUX2):c.223-1G>A	CUX2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2493299	NM_015267.4(CUX2):c.238A>G (p.Lys80Glu)	CUX2 (K18E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026003	NM_015267.4(CUX2):c.254C>T (p.Ala85Val)	CUX2 (A23V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3039195	NM_015267.4(CUX2):c.301+10G>A	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 3044429	NM_015267.4(CUX2):c.306C>T (p.Pro102=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GBenign
Select item 2643291	NM_015267.4(CUX2):c.323C>T (p.Ala108Val)	CUX2 (A108V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643292	NM_015267.4(CUX2):c.354C>T (p.Pro118=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440651	NM_015267.4(CUX2):c.358A>C (p.Ser120Arg)	CUX2 (S120R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 975535	NM_015267.4(CUX2):c.382C>T (p.Arg128Trp)	CUX2 (R128W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 3366837	NM_015267.4(CUX2):c.386G>C (p.Arg129Pro)	CUX2 (R129P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643293	NM_015267.4(CUX2):c.386G>A (p.Arg129Gln)	CUX2 (R129Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2214213	NM_015267.4(CUX2):c.400T>G (p.Ser134Ala)	CUX2 (S134A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298556	NM_015267.4(CUX2):c.401C>T (p.Ser134Leu)	CUX2 (S134L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701209	NM_015267.4(CUX2):c.402G>A (p.Ser134=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791321	NM_015267.4(CUX2):c.417C>T (p.Pro139=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3054750	NM_015267.4(CUX2):c.418G>A (p.Glu140Lys)	CUX2 (E140K +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	GLikely benign
Select item 2570845	NM_015267.4(CUX2):c.430C>T (p.Pro144Ser)	CUX2 (P144S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720487	NM_015267.4(CUX2):c.436+4del	CUX2	Deletion (intron variant)	not provided	GBenign
Select item 1694675	NM_015267.4(CUX2):c.455C>T (p.Ser152Leu)	CUX2 (S152L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1013018	NM_015267.4(CUX2):c.472C>G (p.Leu158Val)	CUX2 (L158V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250717	NM_015267.4(CUX2):c.477C>T (p.Thr159=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643294	NM_015267.4(CUX2):c.478G>A (p.Glu160Lys)	CUX2 (E160K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719542	NM_015267.4(CUX2):c.487C>T (p.Arg163Cys)	CUX2 (R163C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2543829	NM_015267.4(CUX2):c.488G>T (p.Arg163Leu)	CUX2 (R101L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570846	NM_015267.4(CUX2):c.504C>T (p.Pro168=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2500118	NM_015267.4(CUX2):c.560del (p.Lys187fs)	CUX2 (K125fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 67	GLikely pathogenic
Select item 2637377	NM_015267.4(CUX2):c.560+2T>C	CUX2	Single nucleotide variant (splice donor variant)	CUX2-related disorder	GUncertain significance
Select item 750343	NM_015267.4(CUX2):c.560+3G>A	CUX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2440648	NM_015267.4(CUX2):c.561-4G>A	CUX2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2507366	NM_015267.4(CUX2):c.587del (p.Leu196fs)	CUX2 (L134fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3079065	NM_015267.4(CUX2):c.613G>A (p.Glu205Lys)	CUX2 (E143K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042742	NM_015267.4(CUX2):c.637+10G>A	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 3052382	NM_015267.4(CUX2):c.642A>G (p.Leu214=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 2431917	NM_015267.4(CUX2):c.646G>T (p.Ala216Ser)	CUX2 (A154S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 3038198	NM_015267.4(CUX2):c.651G>A (p.Thr217=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GBenign
Select item 1308127	NM_015267.4(CUX2):c.655G>A (p.Ala219Thr)	CUX2 (A157T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629077	NM_015267.4(CUX2):c.674G>A (p.Arg225Gln)	CUX2 (R163Q +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	GUncertain significance
Select item 3270352	NM_015267.4(CUX2):c.692A>G (p.Glu231Gly)	CUX2 (E169G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239445	NM_015267.4(CUX2):c.692A>C (p.Glu231Ala)	CUX2 (E169A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030648	NM_015267.4(CUX2):c.705-3C>T	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 3030201	NM_015267.4(CUX2):c.711T>A (p.Asp237Glu)	CUX2 (D175E +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	GUncertain significance
Select item 1675511	NM_015267.4(CUX2):c.724A>G (p.Ile242Val)	CUX2 (I180V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502465	NM_015267.4(CUX2):c.739G>T (p.Glu247Ter)	CUX2 (E185* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1691068	NM_015267.4(CUX2):c.753+11G>A	CUX2	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 1048583	NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)	CUX2 (E192K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GBenign
Select item 2643295	NM_015267.4(CUX2):c.821T>G (p.Ile274Ser)	CUX2 (I212S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230517	NM_015267.4(CUX2):c.884C>T (p.Ser295Leu)	CUX2 (S233L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053975	NM_015267.4(CUX2):c.885G>A (p.Ser295=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3047847	NM_015267.4(CUX2):c.885G>C (p.Ser295=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GBenign
Select item 3270357	NM_015267.4(CUX2):c.904G>T (p.Ala302Ser)	CUX2 (A240S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025086	NM_015267.4(CUX2):c.905C>T (p.Ala302Val)	CUX2 (A240V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058788	NM_015267.4(CUX2):c.906G>A (p.Ala302=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3369482	NM_015267.4(CUX2):c.914C>A (p.Ser305Tyr)	CUX2 (S243Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440654	NM_015267.4(CUX2):c.935G>A (p.Arg312Gln)	CUX2 (R250Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67 +1 more	GUncertain significance
Select item 3035188	NM_015267.4(CUX2):c.951G>A (p.Val317=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 2440643	NM_015267.4(CUX2):c.1006G>A (p.Ala336Thr)	CUX2 (A274T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 710707	NM_015267.4(CUX2):c.1008C>T (p.Ala336=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806942	NM_015267.4(CUX2):c.1009G>A (p.Asp337Asn)	CUX2 (D337N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643296	NM_015267.4(CUX2):c.1028C>T (p.Thr343Met)	CUX2 (T281M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783039	NM_015267.4(CUX2):c.1029G>A (p.Thr343=)	CUX2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 67 +1 more	GBenign/Likely benign
Select item 3257193	NM_015267.4(CUX2):c.1040A>G (p.Glu347Gly)	CUX2 (E285G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067613	NM_015267.4(CUX2):c.1046T>C (p.Ile349Thr)	CUX2 (I287T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413033	NM_015267.4(CUX2):c.1088A>T (p.Glu363Val)	CUX2 (E301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371471	NM_015267.4(CUX2):c.1144T>A (p.Cys382Ser)	CUX2 (C320S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335116	NM_015267.4(CUX2):c.1204TTC[1] (p.Phe403del)	CUX2 (F341del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 2255885	NM_015267.4(CUX2):c.1214C>G (p.Thr405Arg)	CUX2 (T343R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975532	NM_015267.4(CUX2):c.1214C>A (p.Thr405Lys)	CUX2 (T343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3069096	NM_015267.4(CUX2):c.1223T>C (p.Phe408Ser)	CUX2 (F346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735816	NM_015267.4(CUX2):c.1258+7G>A	CUX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714570	NM_015267.4(CUX2):c.1259-6T>C	CUX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578691	NM_015267.4(CUX2):c.1259-2A>G	CUX2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1342335	NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala)	CUX2 (P361A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67 +1 more	GUncertain significance
Select item 2688903	NM_015267.4(CUX2):c.1287C>G (p.Ile429Met)	CUX2 (I367M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2220731	NM_015267.4(CUX2):c.1304C>T (p.Thr435Met)	CUX2 (T435M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474309	NM_015267.4(CUX2):c.1357G>T (p.Asp453Tyr)	CUX2 (D453Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079056	NM_015267.4(CUX2):c.1421G>A (p.Arg474Gln)	CUX2 (R474Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405861	NM_015267.4(CUX2):c.1436C>T (p.Ser479Phe)	CUX2 (S479F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288511	NM_015267.4(CUX2):c.1459G>A (p.Gly487Arg)	CUX2 (G425R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454222	NM_015267.4(CUX2):c.1477C>A (p.Pro493Thr)	CUX2 (P493T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1696662	NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu)	CUX2 (P432L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance

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