A: The variant NC_000021.9:g.45513546_45513547insCA in gene SLC19A1 is classified as 'Benign' for Knobloch_syndrome. Molecular consequence: SO:0001624: 3_prime_UTR_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, single submitter.