"GeneDx"[submitter] AND "LOC130058069"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 145032	GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3	CHSY1, LOC100507472 +17 more	Copy number gain	See cases	GBenign
Select item 1223043	NM_014918.5(CHSY1):c.-197C>T	CHSY1, LOC130058069	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1273450	NM_014918.5(CHSY1):c.-233C>T	CHSY1, LOC130058069	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar