"GeneDx"[submitter] AND "LOC130060043"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 1196123	NC_000017.11:g.4903333_4903335del	C17orf107, CHRNE +1 more	Deletion (genic upstream transcript variant)	not provided	GLikely benign
Select item 1263987	NC_000017.11:g.4903423T>C	C17orf107, CHRNE +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 668094	NM_000080.3(CHRNE):c.-380T>A	C17orf107, CHRNE +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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