"GeneDx"[submitter] AND "LOC117125596"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 1239846	NC_000019.10:g.12938466A>C	CALR, LOC117125596	Single nucleotide variant	not provided	GBenign
Select item 2501571	NM_004343.3(CALR):c.-79C>T	CALR, LOC117125596	Single nucleotide variant	not provided	GLikely benign
Select item 1290353	NM_004343.4(CALR):c.-21T>C	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1269519	NM_004343.4(CALR):c.-4C>T	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar