A: The variant NC_000021.9:g.45477814dup in gene COL18A1 is classified as 'Pathogenic' for Knobloch_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: no assertion criteria provided.