A: The variant NC_000022.11:g.49909248dup in gene ALG12 is classified as 'Pathogenic/Likely_pathogenic' for ALG12-congenital_disorder_of_glycosylation. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324. Review status: criteria provided, multiple submitters, no conflicts.