"GeneDx"[submitter] AND "LOC130065426"[gene] - ClinVar - NCBI

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Items: 5

	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 1271190	NC_000020.11:g.10674275C>G	JAG1, LOC130065426	Single nucleotide variant	not provided	GBenign

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