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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1262293	NM_017990.5(PDPR):c.1123G>T (p.Val375Leu)	PDPR (V275L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1269744	NM_017990.5(PDPR):c.2236-6T>C	LOC400541, PDPR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253974	GRCh37/hg19 16q22.1(chr16:69986596-70316676)x3	LOC400541, CLEC18A +4 more	Copy number gain	See cases	GUncertain significance

ClinVar