"GeneDx"[submitter] AND "LOC130059760"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1237953	NM_000485.3(APRT):c.80+52G>T	APRT, LOC130059760	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369134	NC_000016.10:g.88811949G>T	GALNS, LOC130059760 +1 more	Single nucleotide variant	Adenine phosphoribosyltransferase deficiency +2 more	GBenign/Likely benign
Select item 1803616	NC_000016.10:g.88811972G>A	APRT, LOC130059760	Single nucleotide variant	not provided	GLikely benign

ClinVar