A: The variant NC_000019.10:g.17555738_17555750del in gene COLGALT1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.