A: The variant NC_000022.11:g.41905587_41905593del in gene SREBF2 is classified as 'Uncertain_significance' for Hypercholesterolemia. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0003124,Human_Phenotype_Ontology:HP:0008154,Human_Phenotype_Ontology:HP:0008173,Human_Phenotype_Ontology:HP:0008359,MeSH:D006937,MedGen:C0020443. Review status: no assertion criteria provided.