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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1238296	NM_002581.5(PAPPA):c.3671C>A (p.Ser1224Tyr)	PAPPA, PAPPA-AS2 (S1224Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253895	GRCh37/hg19 9q32-33.1(chr9:117666205-119059572)x3	TNC, TNFSF8 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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