"GeneDx"[submitter] AND "LOC130056812"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 1200999	NC_000015.10:g.39933839G>A	EIF2AK4, LOC130056812	Single nucleotide variant	not provided	GLikely benign

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