A: The variant NC_000021.9:g.45468732_45468738dup in gene COL18A1 is classified as 'Likely_pathogenic' for Knobloch_syndrome_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750. Review status: criteria provided, single submitter.