"GeneDx"[submitter] AND "LOC129933003"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 1246180	NC_000002.12:g.3558529A>G	LOC129933003, RNASEH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

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