"GeneDx"[submitter] AND "LOC130003374"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 1295419	NM_006214.4(PHYH):c.75+237T>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249208	NM_006214.4(PHYH):c.75+159A>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295416	NM_006214.4(PHYH):c.75+132C>G	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252681	NM_006214.4(PHYH):c.75+79G>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266099	NM_006214.4(PHYH):c.75+68T>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar