CDC42SE1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2304994	NM_020239.4(CDC42SE1):c.227C>T (p.Ser76Phe)	CDC42SE1 (S76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319198	NM_020239.4(CDC42SE1):c.206G>A (p.Arg69Gln)	CDC42SE1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140962	NM_020239.4(CDC42SE1):c.164T>C (p.Met55Thr)	CDC42SE1 (M55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257989	NM_020239.4(CDC42SE1):c.138G>T (p.Glu46Asp)	CDC42SE1 (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140963	NM_020239.4(CDC42SE1):c.79C>T (p.Arg27Trp)	CDC42SE1 (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357874	NM_020239.4(CDC42SE1):c.53C>T (p.Pro18Leu)	CDC42SE1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265027	NM_020239.4(CDC42SE1):c.40G>A (p.Glu14Lys)	CDC42SE1 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394842	GRCh37/hg19 1q21.3(chr1:151030738-151037976)x3	CDC42SE1, MLLT11	Copy number gain	See cases	GLikely benign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 20