"GeneDx"[submitter] AND "LOC130063028"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 1316661	NM_001261826.3(AP3D1):c.-177C>G	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1230683	NM_001261826.3(AP3D1):c.-182C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1706797	NM_001261826.3(AP3D1):c.-194G>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1706726	NM_001261826.3(AP3D1):c.-201C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

ClinVar