"GeneDx"[submitter] AND "HCAR2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 152933	GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3	ABCB9, ARL6IP4 +38 more	Copy number gain	See cases	GUncertain significance
Select item 770415	NM_177551.4(HCAR2):c.951G>A (p.Met317Ile)	HCAR2 (M317I)	Single nucleotide variant (missense variant)	not provided	GBenign

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