"GeneDx"[submitter] AND "LOC130068461"[gene] - ClinVar

	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 60334	GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3	ATP7A, COX7B +15 more	Copy number gain	See cases	GUncertain significance
Select item 58660	GRCh38/hg38 Xq21.1(chrX:77829855-77902263)x2	COX7B, LOC130068460 +2 more	Copy number gain	See cases	GPathogenic
Select item 510669	NM_001866.3(COX7B):c.-42A>G	COX7B, LOC130068461	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 423717	NM_001866.3(COX7B):c.7C>G (p.Pro3Ala)	LOC130068461, COX7B (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449642	NM_001866.3(COX7B):c.40+5G>C	COX7B, LOC130068461	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

ClinVar