"GeneDx"[submitter] AND "LOC130059305"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 1800936	NM_032382.5(COG8):c.304C>T (p.Arg102Cys)	COG8, LOC130059305 (R102C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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