"Revvity Omics, Revvity"[submitter] AND "CUX1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324196	NM_181552.4(CUX1):c.530+1G>A	CUX1	Single nucleotide variant (splice donor variant)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 2440639	NM_181552.4(CUX1):c.1261C>T (p.Arg421Trp)	CUX1 (R421W +1 more)	Single nucleotide variant (intron variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440640	NM_181552.4(CUX1):c.1580C>T (p.Pro527Leu)	CUX1 (P527L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440632	NM_181552.4(CUX1):c.1641G>T (p.Glu547Asp)	CUX1 (E547D +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440631	NM_181552.4(CUX1):c.2401G>A (p.Asp801Asn)	CUX1 (D801N +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440642	NM_181552.4(CUX1):c.3277A>G (p.Ser1093Gly)	CUX1 (S1093G +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440638	NM_181552.4(CUX1):c.3371C>T (p.Pro1124Leu)	CUX1 (P1124L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440634	NM_181552.4(CUX1):c.3949G>A (p.Gly1317Ser)	CUX1 (G1317S +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2688901	NM_181552.4(CUX1):c.3974G>C (p.Arg1325Pro)	CUX1 (R1325P +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440636	NM_181552.4(CUX1):c.3989C>T (p.Ala1330Val)	CUX1 (A1330V +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440641	NM_181552.4(CUX1):c.4127C>T (p.Pro1376Leu)	CUX1 (P1376L +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2440633	NM_181552.4(CUX1):c.4156_4157delinsCT (p.Ala1386Leu)	CUX1 (A1386L +1 more)	Indel (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance
Select item 2343376	NM_181552.4(CUX1):c.4298C>G (p.Ala1433Gly)	CUX1 (A1433G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2440637	NM_181552.4(CUX1):c.4336A>G (p.Ser1446Gly)	CUX1 (S1446G +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with or without impaired intellectual development	GUncertain significance