C1970021[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504275	NM_032382.5(COG8):c.1396del (p.Glu466fs)	COG8 (E466fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2440192	NM_032382.5(COG8):c.980T>G (p.Leu327Arg)	COG8 (L327R)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2440191	NM_032382.5(COG8):c.766C>T (p.Arg256Trp)	COG8 (R256W)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance

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