ClinVar for Gene (Select 23316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3079064	NM_015267.4(CUX2):c.4163G>A (p.Arg1388His)	CUX2 (R1326H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3079063	NM_015267.4(CUX2):c.3919G>A (p.Ala1307Thr)	CUX2 (A1307T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079062	NM_015267.4(CUX2):c.3448C>T (p.Arg1150Cys)	CUX2 (R1088C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3079061	NM_015267.4(CUX2):c.3056C>G (p.Ser1019Cys)	CUX2 (S957C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079059	NM_015267.4(CUX2):c.2591G>T (p.Arg864Leu)	CUX2 (R802L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079058	NM_015267.4(CUX2):c.2492C>T (p.Pro831Leu)	CUX2 (P769L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079057	NM_015267.4(CUX2):c.2330C>A (p.Ser777Tyr)	CUX2 (S715Y +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 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 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 3064803	NM_015267.4(CUX2):c.2983G>A (p.Glu995Lys)	CUX2 (E933K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
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 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 3053975	NM_015267.4(CUX2):c.885G>A (p.Ser295=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3053756	NM_015267.4(CUX2):c.3869C>T (p.Thr1290Ile)	CUX2 (T1228I +1 more)	Single nucleotide variant (missense 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 3051876	NM_015267.4(CUX2):c.2982T>G (p.Pro994=)	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 3047090	NM_015267.4(CUX2):c.4191G>A (p.Ser1397=)	CUX2	Single nucleotide variant (synonymous 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 3044360	NM_015267.4(CUX2):c.1752G>A (p.Ser584=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3043197	NM_015267.4(CUX2):c.3162G>A (p.Lys1054=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3042934	NM_015267.4(CUX2):c.3774G>C (p.Pro1258=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder +1 more	GLikely benign
Select item 3042742	NM_015267.4(CUX2):c.637+10G>A	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 3042279	NM_015267.4(CUX2):c.1692G>A (p.Glu564=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3040305	NM_015267.4(CUX2):c.63+9G>C	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	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 3038198	NM_015267.4(CUX2):c.651G>A (p.Thr217=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GBenign
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 3034490	NM_015267.4(CUX2):c.3753C>T (p.His1251=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3034141	NM_015267.4(CUX2):c.3852C>T (p.Asn1284=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3033962	NM_015267.4(CUX2):c.2623A>G (p.Thr875Ala)	CUX2 (T813A +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	GUncertain significance
Select item 3033927	NM_015267.4(CUX2):c.3196+9C>T	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 3031874	NM_015267.4(CUX2):c.2344G>A (p.Ala782Thr)	CUX2 (A720T +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	GLikely benign
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 3027300	NM_015267.4(CUX2):c.3695C>T (p.Thr1232Ile)	CUX2 (T1170I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3027027	NM_015267.4(CUX2):c.2551G>A (p.Glu851Lys)	CUX2 (E789K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026867	NM_015267.4(CUX2):c.4268C>A (p.Ser1423Tyr)	CUX2 (S1361Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026854	NM_015267.4(CUX2):c.3203G>A (p.Arg1068Gln)	CUX2 (R1006Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 3025972	NM_015267.4(CUX2):c.2245G>C (p.Glu749Gln)	CUX2 (E687Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025781	NM_015267.4(CUX2):c.2889C>T (p.Leu963=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025675	NM_015267.4(CUX2):c.3733G>C (p.Gly1245Arg)	CUX2 (G1183R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025551	NM_015267.4(CUX2):c.2976A>C (p.Thr992=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2712765	NM_015267.4(CUX2):c.11A>G (p.Asn4Ser)	CUX2 (N4S)	Single nucleotide variant (missense variant)	not provided	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 2688902	NM_015267.4(CUX2):c.3196+10G>A	CUX2	Single nucleotide variant (intron variant)	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 2664568	NM_015267.4(CUX2):c.3437C>T (p.Ser1146Phe)	CUX2 (S1084F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662171	NM_015267.4(CUX2):c.1919T>C (p.Ile640Thr)	CUX2 (I578T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643315	NM_015267.4(CUX2):c.4104G>A (p.Glu1368=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643314	NM_015267.4(CUX2):c.4007C>T (p.Pro1336Leu)	CUX2 (P1274L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2643313	NM_015267.4(CUX2):c.3903A>G (p.Glu1301=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643312	NM_015267.4(CUX2):c.3814G>A (p.Val1272Met)	CUX2 (V1210M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643311	NM_015267.4(CUX2):c.3754_3755insGCCCCC (p.Ser1252delinsCysProPro)	CUX2	Insertion (inframe_indel)	not provided	GBenign
Select item 2643310	NM_015267.4(CUX2):c.3555G>A (p.Lys1185=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2643309	NM_015267.4(CUX2):c.3517G>A (p.Val1173Met)	CUX2 (V1111M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643308	NM_015267.4(CUX2):c.3442G>A (p.Ala1148Thr)	CUX2 (A1086T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2643307	NM_015267.4(CUX2):c.2962C>T (p.Pro988Ser)	CUX2 (P926S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643306	NM_015267.4(CUX2):c.2871G>C (p.Leu957=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643305	NM_015267.4(CUX2):c.2773G>A (p.Gly925Ser)	CUX2 (G863S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643304	NM_015267.4(CUX2):c.2646G>A (p.Pro882=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643303	NM_015267.4(CUX2):c.2637C>T (p.Thr879=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643302	NM_015267.4(CUX2):c.2457C>A (p.Pro819=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643301	NM_015267.4(CUX2):c.2381G>T (p.Gly794Val)	CUX2 (G732V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643300	NM_015267.4(CUX2):c.2265G>A (p.Ala755=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643299	NM_015267.4(CUX2):c.2151G>A (p.Ala717=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643298	NM_015267.4(CUX2):c.1944C>T (p.Asp648=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643297	NM_015267.4(CUX2):c.1629G>A (p.Ala543=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 2643292	NM_015267.4(CUX2):c.354C>T (p.Pro118=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2643290	NM_015267.4(CUX2):c.17G>T (p.Gly6Val)	CUX2 (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2632906	NM_015267.4(CUX2):c.2180C>T (p.Pro727Leu)	CUX2 (P665L +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder	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 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 2610472	NM_015267.4(CUX2):c.2455C>T (p.Pro819Ser)	CUX2 (P819S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598450	NM_015267.4(CUX2):c.2102G>A (p.Arg701His)	CUX2 (R701H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591941	NM_015267.4(CUX2):c.3997C>T (p.Pro1333Ser)	CUX2 (P1333S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2589860	NM_015267.4(CUX2):c.2918C>T (p.Ala973Val)	CUX2 (A973V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589177	NM_015267.4(CUX2):c.1796G>A (p.Arg599His)	CUX2 (R537H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 2582908	NM_015267.4(CUX2):c.2508C>A (p.Asp836Glu)	CUX2 (D774E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2579985	NM_015267.4(CUX2):c.2011A>G (p.Lys671Glu)	CUX2 (K609E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578692	NM_015267.4(CUX2):c.1507G>A (p.Gly503Ser)	CUX2 (G441S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2578691	NM_015267.4(CUX2):c.1259-2A>G	CUX2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2576739	NM_015267.4(CUX2):c.3250G>C (p.Asp1084His)	CUX2 (D1022H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572276	NM_015267.4(CUX2):c.1547C>G (p.Pro516Arg)	CUX2 (P454R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572175	NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)	CUX2 (P923T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2570847	NM_015267.4(CUX2):c.2500C>G (p.Pro834Ala)	CUX2 (P772A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2570846	NM_015267.4(CUX2):c.504C>T (p.Pro168=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder +1 more	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 +1 more	GBenign
Select item 2555133	NM_015267.4(CUX2):c.4117C>A (p.Leu1373Ile)	CUX2 (L1311I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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