"Mendelics"[submitter] AND "COG6"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802961	NM_020751.3(COG6):c.154-2A>G	COG6	Single nucleotide variant (splice acceptor variant)	COG6-ongenital disorder of glycosylation	GLikely pathogenic
Select item 697992	NM_020751.3(COG6):c.358A>G (p.Ser120Gly)	COG6 (S120G)	Single nucleotide variant (missense variant +1 more)	COG6-related condition +2 more	GConflicting classifications of pathogenicity