"GeneDx"[submitter] AND "PCED1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1246266	NC_000020.11:g.2840498C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268336	NM_022575.4(VPS16):c.-21C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259313	NM_022575.4(VPS16):c.53+55C>T	VPS16, PCED1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1286534	NM_022575.4(VPS16):c.53+128C>T	PCED1A, VPS16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

ClinVar