A: The variant NC_000021.9:g.45479927_45479936del in gene COL18A1 is classified as 'Pathogenic' for Knobloch_syndrome_1|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.