"GeneDx"[submitter] AND "LOC122094910"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 203778	NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala)	HMGCS2, LOC122094910 (P25A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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