PECAM1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 146504	GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1	CEP95, DDX5 +22 more	Copy number loss	See cases	GUncertain significance
Select item 812625	NM_000442.5(PECAM1):c.2008A>G (p.Arg670Gly)	PECAM1 (R670G)	Single nucleotide variant (missense variant)	Three Vessel Coronary Disease	GBenign
Select item 812624	NM_000442.5(PECAM1):c.1688G>A (p.Ser563Asn)	PECAM1 (S563N)	Single nucleotide variant (missense variant)	Three Vessel Coronary Disease	GBenign
Select item 156304	NM_000442.5(PECAM1):c.373G>C (p.Val125Leu)	PECAM1 (V125L)	Single nucleotide variant (missense variant)	PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM +1 more	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	SCN4A, SMURF2 +10 more	Duplication	Hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic