"GeneDx"[submitter] AND "LOC125384580"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1203549	NM_000214.3(JAG1):c.1120+305A>G	JAG1, LOC125384580	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194278	NM_000214.3(JAG1):c.1120+252A>G	JAG1, LOC125384580	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar