"GeneDx"[submitter] AND "LOC130066785"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1245307	NC_000021.9:g.43718989_43718996dup	LOC130066785, PDXK	Duplication	not provided	GBenign
Select item 1229327	NC_000021.9:g.43719049G>T	LOC130066785, PDXK	Single nucleotide variant	not provided	GBenign
Select item 1248473	NM_003681.5(PDXK):c.-163A>G	LOC130066785, PDXK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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