A: The variant NC_000021.9:g.45476493C>T in gene COL18A1 is classified as 'Uncertain_significance' for Knobloch_syndrome. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, single submitter.