A: The variant NC_000021.9:g.45505229CCCCCCAGG[1] in gene SLC19A1 is classified as 'Conflicting_classifications_of_pathogenicity' for Knobloch_syndrome|not_provided|not_specified|COL18A1-related_disorder. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571|MedGen:C3661900|MedGen:CN169374|.. Review status: criteria provided, conflicting classifications.