"GeneDx"[submitter] AND "PCP2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 151458	GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3	CAMSAP3, LOC121627854 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1188512	NM_001171155.2(PET100):c.*236C>T	PCP2, PET100 +1 more (R103Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1283193	NC_000019.10:g.7636780C>A	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 1183758	NC_000019.10:g.7636862T>C	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign

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