"GeneDx"[submitter] AND "LOC125316790"[gene] - ClinVar

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	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 1706893	NM_018714.3(COG1):c.2221-209C>T	COG1, LOC125316790	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1355015	NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)	COG1, LOC125316790 (P741L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance

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