A: The variant NC_000020.11:g.17494948del in gene BFSP1 is classified as 'Likely_pathogenic' for Developmental_cataract. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0000519,Human_Phenotype_Ontology:HP:0001108,Human_Phenotype_Ontology:HP:0007679,Human_Phenotype_Ontology:HP:0007726,Human_Phenotype_Ontology:HP:0007788,MedGen:C0009691. Review status: no assertion criteria provided.