"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193436	NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	COG6 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 193437	NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	COG6 (C32S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 30628	NM_020751.3(COG6):c.1646G>T (p.Gly549Val)	COG6 (G549V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GPathogenic

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ClinVar