"GeneDx"[submitter] AND "LOC129931264"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 1723678	NM_000701.8(ATP1A1):c.1088C>A (p.Ala363Asp)	ATP1A1, LOC129931264 (A332D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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