A: The variant NC_000019.10:g.48966382delinsTTT in gene FTL is classified as 'Pathogenic' for Neuroferritinopathy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846. Review status: criteria provided, single submitter.