"GeneDx"[submitter] AND "LOC130068319"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
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 1698048	NM_001184896.1(PHF8):c.9G>C (p.Arg3Ser)	LOC130068319, PHF8 (R3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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