"Revvity Omics, Revvity"[submitter] AND "CUX2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2440648	NM_015267.4(CUX2):c.561-4G>A	CUX2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 67	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 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 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 2440650	NM_015267.4(CUX2):c.1901-9C>A	CUX2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440652	NM_015267.4(CUX2):c.2192C>A (p.Pro731Gln)	CUX2 (P669Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440646	NM_015267.4(CUX2):c.2501C>G (p.Pro834Arg)	CUX2 (P772R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	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 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 2688902	NM_015267.4(CUX2):c.3196+10G>A	CUX2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440656	NM_015267.4(CUX2):c.3341A>C (p.His1114Pro)	CUX2 (H1052P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440644	NM_015267.4(CUX2):c.3556G>T (p.Ala1186Ser)	CUX2 (A1124S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440649	NM_015267.4(CUX2):c.3728G>A (p.Gly1243Asp)	CUX2 (G1181D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440655	NM_015267.4(CUX2):c.4009G>A (p.Gly1337Ser)	CUX2 (G1275S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	GUncertain significance
Select item 2440653	NM_015267.4(CUX2):c.4291A>G (p.Lys1431Glu)	CUX2 (K1369E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 67	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