"GeneDx"[submitter] AND "LOC130060302"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1202406	NC_000017.11:g.13018103C>T	ELAC2, LOC130060302	Single nucleotide variant	not provided	GLikely benign
Select item 1222168	NC_000017.11:g.13018133T>C	ELAC2, LOC130060302	Single nucleotide variant	not provided	GBenign

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