"GeneDx"[submitter] AND "LOC126861662"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 1243383	NM_002150.3(HPD):c.324+225C>T	HPD, LOC126861662	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1010137	NM_002150.3(HPD):c.247G>A (p.Gly83Ser)	HPD, LOC126861662 (G44S +1 more)	Single nucleotide variant (missense variant)	HPD-related disorder +3 more	GUncertain significance
Select item 1247476	NM_002150.3(HPD):c.241+61G>T	HPD, LOC126861662	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691182	NM_002150.3(HPD):c.199-192del	HPD, LOC126861662	Deletion (intron variant)	not provided	GLikely benign

ClinVar