"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CUX2"[gene - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1694674	NM_015267.4(CUX2):c.78C>T (p.Ser26=)	CUX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 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 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 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 2643293	NM_015267.4(CUX2):c.386G>A (p.Arg129Gln)	CUX2 (R129Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 +1 more	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 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 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 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 2570846	NM_015267.4(CUX2):c.504C>T (p.Pro168=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 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 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 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 2578691	NM_015267.4(CUX2):c.1259-2A>G	CUX2	Single nucleotide variant (splice acceptor 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 2351108	NM_015267.4(CUX2):c.1606G>A (p.Ala536Thr)	CUX2 (A474T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1013019	NM_015267.4(CUX2):c.1632G>A (p.Ala544=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589177	NM_015267.4(CUX2):c.1796G>A (p.Arg599His)	CUX2 (R537H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2643298	NM_015267.4(CUX2):c.1944C>T (p.Asp648=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1335117	NM_015267.4(CUX2):c.2002+7G>A	CUX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2643299	NM_015267.4(CUX2):c.2151G>A (p.Ala717=)	CUX2	Single nucleotide variant (synonymous 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 2643300	NM_015267.4(CUX2):c.2265G>A (p.Ala755=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335118	NM_015267.4(CUX2):c.2373C>T (p.Ser791=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806943	NM_015267.4(CUX2):c.2377C>T (p.Arg793Cys)	CUX2 (R731C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2643302	NM_015267.4(CUX2):c.2457C>A (p.Pro819=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2643303	NM_015267.4(CUX2):c.2637C>T (p.Thr879=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710752	NM_015267.4(CUX2):c.2643G>A (p.Pro881=)	CUX2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 67 +1 more	GBenign/Likely benign
Select item 2643304	NM_015267.4(CUX2):c.2646G>A (p.Pro882=)	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 2643306	NM_015267.4(CUX2):c.2871G>C (p.Leu957=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025781	NM_015267.4(CUX2):c.2889C>T (p.Leu963=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701210	NM_015267.4(CUX2):c.2926+8C>T	CUX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 3025551	NM_015267.4(CUX2):c.2976A>C (p.Thr992=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 932510	NM_015267.4(CUX2):c.3120C>T (p.Ile1040=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 718257	NM_015267.4(CUX2):c.3345C>T (p.Asn1115=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1298557	NM_015267.4(CUX2):c.3421G>C (p.Gly1141Arg)	CUX2 (G1079R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778659	NM_015267.4(CUX2):c.3441G>A (p.Pro1147=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2643308	NM_015267.4(CUX2):c.3442G>A (p.Ala1148Thr)	CUX2 (A1086T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2643310	NM_015267.4(CUX2):c.3555G>A (p.Lys1185=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806944	NM_015267.4(CUX2):c.3582G>A (p.Ser1194=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1701211	NM_015267.4(CUX2):c.3702T>G (p.Asp1234Glu)	CUX2 (D1172E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 975533	NM_015267.4(CUX2):c.3724G>A (p.Gly1242Arg)	CUX2 (G1180R +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder +2 more	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 2643311	NM_015267.4(CUX2):c.3754_3755insGCCCCC (p.Ser1252delinsCysProPro)	CUX2	Insertion (inframe_indel)	not provided	GBenign
Select item 736188	NM_015267.4(CUX2):c.3762A>C (p.Pro1254=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3042934	NM_015267.4(CUX2):c.3774G>C (p.Pro1258=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2498567	NM_015267.4(CUX2):c.3774G>A (p.Pro1258=)	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 2643313	NM_015267.4(CUX2):c.3903A>G (p.Glu1301=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 716175	NM_015267.4(CUX2):c.4010G>A (p.Gly1337Asp)	CUX2 (G1275D +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder +1 more	GBenign/Likely benign
Select item 2643315	NM_015267.4(CUX2):c.4104G>A (p.Glu1368=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675512	NM_015267.4(CUX2):c.4107C>T (p.Ala1369=)	CUX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734838	NM_015267.4(CUX2):c.4108G>A (p.Gly1370Arg)	CUX2 (G1308R +1 more)	Single nucleotide variant (missense variant)	CUX2-related disorder +2 more	GConflicting classifications of pathogenicity
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 1675513	NM_015267.4(CUX2):c.4297C>T (p.Pro1433Ser)	CUX2 (P1371S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67 +1 more	GUncertain significance
Select item 1694676	NM_015267.4(CUX2):c.4298C>T (p.Pro1433Leu)	CUX2 (P1371L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 82