A: The variant NC_000020.11:g.44114816AG[1] in gene JPH2 is classified as 'Uncertain_significance' for Cardiomyopathy,_dilated,_2E. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492. Review status: criteria provided, single submitter.