"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95529	NM_013339.4(ALG6):c.257+5G>A	ALG6	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30420	NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	ALG6 (I299del)	Microsatellite (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C +1 more	GPathogenic/Likely pathogenic
Select item 5497	NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	ALG6 (A333V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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