A: The variant NC_000022.11:g.50627219dup in gene ARSA is classified as 'Pathogenic' for Metachromatic_leukodystrophy|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.