"Baylor Genetics"[submitter] AND "KCNJ5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1496865	NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)	KCNJ5 (R50H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 91915	NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	KCNJ5 (G151R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 216484	NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)	KCNJ5 (R220W)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625560	GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168)	ADAMTS8, APLP2 +15 more	Copy number loss	not provided	GPathogenic

ClinVar