"GeneDx"[submitter] AND "LOC129997559"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 1329640	NM_032861.4(SERAC1):c.-52C>A	LOC129997559, SERAC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287490	NC_000006.12:g.158168341G>A	LOC129997559, SERAC1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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