A: The variant NC_000020.11:g.17499000C>G in gene BFSP1 is classified as 'Uncertain_significance' for Congenital_ocular_coloboma. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194. Review status: no assertion criteria provided.