"GeneDx"[submitter] AND "LOC130061576"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152856	GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3	C17orf80, COG1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1229757	NC_000017.11:g.73193020_73193021dup	COG1, LOC130061576	Duplication	not provided	GBenign
Select item 324951	NM_018714.2(COG1):c.-27A>G	COG1, LOC130061576	Single nucleotide variant	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 324955	NM_018714.3(COG1):c.58G>C (p.Ala20Pro)	COG1, LOC130061576 (A20P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GBenign/Likely benign

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