"GeneDx"[submitter] AND "LOC130000726"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1683920	NM_016023.5(OTUD6B):c.25C>G (p.Leu9Val)	LOC130000726, OTUD6B (L9V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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