A: The variant NC_000021.9:g.45475534C>T in gene COL18A1 is classified as 'Uncertain_significance' for not_provided|Knobloch_syndrome_1. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0800167,MedGen:C4551775,OMIM:267750. Review status: criteria provided, multiple submitters, no conflicts.