A: The variant NC_000021.9:g.45480087AG[5] in gene COL18A1 is classified as 'Likely_pathogenic' for Knobloch_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, single submitter.