"Ambry Genetics"[submitter] AND "CUX2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3270356	NM_015267.4(CUX2):c.1547C>A (p.Pro516His)	CUX2 (P454H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2358152	NM_015267.4(CUX2):c.1631C>T (p.Ala544Val)	CUX2 (A544V +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 2517783	NM_015267.4(CUX2):c.1828A>G (p.Ile610Val)	CUX2 (I548V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226241	NM_015267.4(CUX2):c.1891C>T (p.Arg631Trp)	CUX2 (R569W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285364	NM_015267.4(CUX2):c.1921C>T (p.Arg641Cys)	CUX2 (R641C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472139	NM_015267.4(CUX2):c.1986C>G (p.Ile662Met)	CUX2 (I600M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366538	NM_015267.4(CUX2):c.2086A>C (p.Ile696Leu)	CUX2 (I634L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3270354	NM_015267.4(CUX2):c.2094G>T (p.Glu698Asp)	CUX2 (E698D +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 3270353	NM_015267.4(CUX2):c.2165C>T (p.Ser722Leu)	CUX2 (S660L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269545	NM_015267.4(CUX2):c.2267A>T (p.Gln756Leu)	CUX2 (Q694L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457744	NM_015267.4(CUX2):c.2296G>A (p.Ala766Thr)	CUX2 (A766T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2269598	NM_015267.4(CUX2):c.2297C>T (p.Ala766Val)	CUX2 (A704V +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 2477885	NM_015267.4(CUX2):c.2338G>A (p.Gly780Ser)	CUX2 (G718S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726609	NM_015267.4(CUX2):c.2386C>T (p.Leu796Phe)	CUX2 (L734F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2272796	NM_015267.4(CUX2):c.2459A>C (p.Asn820Thr)	CUX2 (N758T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382742	NM_015267.4(CUX2):c.2467G>A (p.Ala823Thr)	CUX2 (A823T +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 2440647	NM_015267.4(CUX2):c.2531A>G (p.Asp844Gly)	CUX2 (D782G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2334883	NM_015267.4(CUX2):c.2674A>G (p.Met892Val)	CUX2 (M892V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521037	NM_015267.4(CUX2):c.2700G>T (p.Glu900Asp)	CUX2 (E838D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312154	NM_015267.4(CUX2):c.2846G>A (p.Arg949Gln)	CUX2 (R887Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293771	NM_015267.4(CUX2):c.2902G>A (p.Gly968Ser)	CUX2 (G906S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2330424	NM_015267.4(CUX2):c.2975C>T (p.Thr992Ile)	CUX2 (T930I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407709	NM_015267.4(CUX2):c.3008G>A (p.Ser1003Asn)	CUX2 (S1003N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2528373	NM_015267.4(CUX2):c.3065C>T (p.Ser1022Leu)	CUX2 (S960L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368731	NM_015267.4(CUX2):c.3421G>A (p.Gly1141Ser)	CUX2 (G1079S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 975533	NM_015267.4(CUX2):c.3724G>A (p.Gly1242Arg)	CUX2 (G1180R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2356340	NM_015267.4(CUX2):c.3767C>T (p.Pro1256Leu)	CUX2 (P1194L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2536406	NM_015267.4(CUX2):c.3784G>A (p.Asp1262Asn)	CUX2 (D1200N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3270355	NM_015267.4(CUX2):c.3949G>A (p.Asp1317Asn)	CUX2 (D1255N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472256	NM_015267.4(CUX2):c.3976G>T (p.Gly1326Cys)	CUX2 (G1326C +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 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 2555133	NM_015267.4(CUX2):c.4117C>A (p.Leu1373Ile)	CUX2 (L1311I +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 2514369	NM_015267.4(CUX2):c.4177G>A (p.Val1393Met)	CUX2 (V1331M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465129	NM_015267.4(CUX2):c.4190C>T (p.Ser1397Leu)	CUX2 (S1397L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345319	NM_015267.4(CUX2):c.4201G>A (p.Ala1401Thr)	CUX2 (A1339T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473875	NM_015267.4(CUX2):c.4336C>T (p.His1446Tyr)	CUX2 (H1446Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512343	NM_015267.4(CUX2):c.4370G>A (p.Arg1457Gln)	CUX2 (R1395Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2301490	NM_015267.4(CUX2):c.4420C>T (p.Arg1474Trp)	CUX2 (R1474W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390654	NM_015267.4(CUX2):c.4421G>A (p.Arg1474Gln)	CUX2 (R1474Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77