"GeneDx"[submitter] AND "LOC130068830"[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 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 58009	GRCh38/hg38 Xq28(chrX:153667032-153817949)x0	ABCD1, BCAP31 +16 more	Copy number loss	See cases	GPathogenic
Select item 1207988	NM_001256447.2(BCAP31):c.-44-454G>A	BCAP31, LOC130068830	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar