CEACAM1[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 2298607	NM_001712.5(CEACAM1):c.1541C>A (p.Thr514Lys)	CEACAM1, LIPE-AS1 (T418K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609900	NM_001712.5(CEACAM1):c.1406A>G (p.His469Arg)	CEACAM1, LIPE-AS1 (H373R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526807	NM_001712.5(CEACAM1):c.1092G>T (p.Gln364His)	CEACAM1, LIPE-AS1 (Q364H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352279	NM_001712.5(CEACAM1):c.557C>A (p.Pro186Gln)	CEACAM1, LIPE-AS1 (P186Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247901	NM_001712.5(CEACAM1):c.520A>G (p.Thr174Ala)	CEACAM1, LIPE-AS1 (T174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769010	NM_001712.5(CEACAM1):c.333C>T (p.Asn111=)	CEACAM1, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771932	NM_001712.5(CEACAM1):c.159C>A (p.Leu53=)	CEACAM1, LIPE-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252592	NM_001712.5(CEACAM1):c.44G>A (p.Trp15Ter)	CEACAM1, LIPE-AS1 (W15*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2280411	NM_001712.5(CEACAM1):c.17C>T (p.Ala6Val)	LIPE-AS1, CEACAM1 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394142	GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3	CD177, CEACAM1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic