"GeneDx"[submitter] AND "LOC130001472"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 144967	GRCh38/hg38 9p24.2(chr9:2413996-2711186)x3	LOC121740738, LOC130001467 +7 more	Copy number gain	See cases	GBenign
Select item 59053	GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1	LOC121740738, LOC130001467 +7 more	Copy number loss	See cases	GUncertain significance
Select item 1198529	NM_003383.5(VLDLR):c.1484+50G>T	LOC130001472, VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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