A: The variant NC_000021.9:g.45478325A>G in gene COL18A1 is classified as 'Likely_pathogenic' for Knobloch_syndrome_1. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750. Review status: criteria provided, single submitter.