A: The variant NC_000021.9:g.45456111C>T in gene COL18A1 is classified as 'Uncertain_significance' for Knobloch_syndrome|not_provided|Inborn_genetic_diseases|Hereditary_glaucoma,_primary_closed-angle. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030038,MedGen:C5394374,OMIM:618880. Review status: criteria provided, multiple submitters, no conflicts.