A: The variant NC_000019.10:g.48965333_48965338del in gene FTL is classified as 'Pathogenic' for Hereditary_hyperferritinemia_with_congenital_cataracts. Molecular consequence: SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163. Review status: no assertion criteria provided.