A: The variant NC_000021.9:g.18279020_18279021del in gene TMPRSS15 is classified as 'Pathogenic' for Enterokinase_deficiency|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200,Orphanet:168601|MedGen:C3661900. Review status: criteria provided, single submitter.