"GeneDx"[submitter] AND "LOC130068416"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 145949	GRCh38/hg38 Xq13.1(chrX:71348829-71447967)x3	LOC130068415, LOC130068416 +2 more	Copy number gain	See cases	GLikely benign
Select item 1227807	NC_000023.11:g.71366210A>C	LOC130068416, TAF1	Single nucleotide variant	not provided	GBenign

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