"Baylor Genetics"[submitter] AND "COG2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030210	NM_007357.3(COG2):c.116G>A (p.Arg39Gln)	COG2 (R39Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq	GUncertain significance
Select item 1030211	NM_007357.3(COG2):c.1529G>T (p.Arg510Leu)	COG2 (R510L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq +2 more	GUncertain significance