"Revvity Omics, Revvity"[submitter] AND "ALG6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558193	NM_013339.4(ALG6):c.82_82+8del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
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 553556	NM_013339.4(ALG6):c.429+1G>T	ALG6	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1091389	NM_013339.4(ALG6):c.618C>T (p.His206=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 965480	NM_013339.4(ALG6):c.1018del (p.Ser340fs)	ALG6 (S340fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2143323	NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)	ALG6 (C431G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar