A: The variant NC_000021.9:g.45505221C>T in gene SLC19A1 is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Knobloch_syndrome_1|Knobloch_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, multiple submitters, no conflicts.