A: The variant NC_000022.11:g.42066730C>A in gene NAGA is classified as 'Pathogenic' for Alpha-N-acetylgalactosaminidase_deficiency_type_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242,Orphanet:3137,Orphanet:79280. Review status: no assertion criteria provided.