"GeneDx"[submitter] AND "LOC129933654"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1277023	NC_000002.12:g.46297151G>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1241092	NC_000002.12:g.46297251T>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1275431	NC_000002.12:g.46297264G>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1232911	NC_000002.12:g.46297273G>A	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign

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