"Baylor Genetics"[submitter] AND "COG4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 702101	NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)	COG4 (D609N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2442053	NM_015386.3(COG4):c.793G>A (p.Asp265Asn)	COG4 (D123N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance