A: The variant NC_000021.9:g.45512428G>A in gene SLC19A1 is classified as 'Uncertain_significance' for not_provided|Knobloch_syndrome. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, multiple submitters, no conflicts.