A: The variant NC_000019.10:g.48965413C>A in gene FTL is classified as 'Uncertain_significance' for Hereditary_hyperferritinemia_with_congenital_cataracts|Neuroferritinopathy. Molecular consequence: SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163|MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846. Review status: criteria provided, single submitter.