A: The variant NC_000021.9:g.45468403del in gene COL18A1 is classified as 'Pathogenic' for Hereditary_glaucoma,_primary_closed-angle|not_provided|Knobloch_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880|MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571. Review status: criteria provided, single submitter.