A: The variant NC_000019.10:g.48966317G>A in gene FTL is classified as 'Pathogenic' for Neuroferritinopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846. Review status: no assertion criteria provided.