A: The variant NC_000021.9:g.45468724del in gene COL18A1 is classified as 'Pathogenic' for Knobloch_syndrome|Hereditary_glaucoma,_primary_closed-angle. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880. Review status: no assertion criteria provided.