"GeneDx"[submitter] AND "LOC130009838"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 538871	NC_000013.11:g.52011745A>G	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease +1 more	GBenign
Select item 811598	NC_000013.11:g.52011857G>A	ATP7B, LOC130009838	Single nucleotide variant (genic upstream transcript variant)	not specified +1 more	GBenign

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