A: The variant NC_000021.9:g.45494560C>T in gene COL18A1 is classified as 'Pathogenic' for Knobloch_syndrome|not_provided|Retinal_dystrophy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862. Review status: criteria provided, multiple submitters, no conflicts.