A: The variant NC_000021.9:g.45511204G>A in gene SLC19A1 is classified as 'Likely_benign' for Knobloch_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, single submitter.