"GeneDx"[submitter] AND "LOC130068867"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60420	GRCh38/hg38 Xq28(chrX:154336596-154642063)x2	ATP6AP1, ATP6AP1-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 60422	GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	ATP6AP1, ATP6AP1-DT +42 more	Copy number gain	See cases	GUncertain significance
Select item 58018	GRCh38/hg38 Xq28(chrX:154394598-154554969)x1	ATP6AP1, ATP6AP1-DT +37 more	Copy number loss	See cases	GPathogenic
Select item 1806502	NM_006013.5(RPL10):c.-24+2T>G	LOC130068867, RPL10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar