"OMIM"[submitter] AND "ALG6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5499	NM_013339.4(ALG6):c.167+5G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 30422	NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	ALG6 (Y131H)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GBenign/Likely benign
Select item 30421	NM_013339.4(ALG6):c.680+2T>G	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	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)	ALG6-congenital disorder of glycosylation 1C +2 more	GPathogenic
Select item 5498	NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)	ALG6 (S478P)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic

ClinVar