"GeneDx"[submitter] AND "LOC108511947"[gene] - ClinVar - NCBI

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Items: 4

	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 1274114	NM_000032.5(ALAS2):c.1169-157C>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214960	NM_000032.5(ALAS2):c.1169-209A>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign

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