A: The variant NC_000022.11:g.42067172C>T in gene NAGA is classified as 'Pathogenic/Likely_pathogenic' for Alpha-N-acetylgalactosaminidase_deficiency_type_1|Alpha-N-acetylgalactosaminidase_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241,Orphanet:3137,Orphanet:79279,Orphanet:79281|MONDO:MONDO:0017779,MedGen:C5848084,Orphanet:3137. Review status: criteria provided, multiple submitters, no conflicts.