A: The variant NC_000021.9:g.45497651dup in gene COL18A1 is classified as 'Pathogenic' for Knobloch_syndrome_1|not_provided|Knobloch_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, multiple submitters, no conflicts.