"GeneDx"[submitter] AND "LOC129930558"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 1235854	NC_000001.11:g.52927236A>G	LOC129930558, SCP2	Single nucleotide variant	not provided	GBenign
Select item 1296645	NM_002979.5(SCP2):c.-80A>T	LOC129930558, SCP2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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