A: The variant NC_000021.9:g.45505243_45505252del in gene SLC19A1 is classified as 'Pathogenic' for not_provided|Knobloch_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, multiple submitters, no conflicts.