"CUX2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040305	NM_015267.4(CUX2):c.63+9G>C	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	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 +1 more	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 1701209	NM_015267.4(CUX2):c.402G>A (p.Ser134=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 2570846	NM_015267.4(CUX2):c.504C>T (p.Pro168=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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)	Developmental and epileptic encephalopathy, 67 +2 more	GBenign/Likely 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 3052382	NM_015267.4(CUX2):c.642A>G (p.Leu214=)	CUX2	Single nucleotide variant (synonymous 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 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 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 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 3058788	NM_015267.4(CUX2):c.906G>A (p.Ala302=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
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 2643297	NM_015267.4(CUX2):c.1629G>A (p.Ala543=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3044360	NM_015267.4(CUX2):c.1752G>A (p.Ser584=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 585015	NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)	CUX2 (E590K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67 +2 more	GPathogenic/Likely pathogenic
Select item 2366538	NM_015267.4(CUX2):c.2086A>C (p.Ile696Leu)	CUX2 (I634L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 768583	NM_015267.4(CUX2):c.2270C>T (p.Ala757Val)	CUX2 (A757V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 738733	NM_015267.4(CUX2):c.2604C>T (p.Tyr868=)	CUX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 1701210	NM_015267.4(CUX2):c.2926+8C>T	CUX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 3043197	NM_015267.4(CUX2):c.3162G>A (p.Lys1054=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
Select item 3033927	NM_015267.4(CUX2):c.3196+9C>T	CUX2	Single nucleotide variant (intron variant)	CUX2-related disorder	GLikely benign
Select item 2368731	NM_015267.4(CUX2):c.3421G>A (p.Gly1141Ser)	CUX2 (G1079S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 3034490	NM_015267.4(CUX2):c.3753C>T (p.His1251=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign
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 3034141	NM_015267.4(CUX2):c.3852C>T (p.Asn1284=)	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 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 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 3047090	NM_015267.4(CUX2):c.4191G>A (p.Ser1397=)	CUX2	Single nucleotide variant (synonymous variant)	CUX2-related disorder	GLikely benign

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Items: 48