A: The variant NC_000021.9:g.45456045G>A in gene COL18A1 is classified as 'Conflicting_classifications_of_pathogenicity' for not_specified|COL18A1-related_disorder|Knobloch_syndrome|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|.|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, conflicting classifications.