A: The variant NC_000020.11:g.44115755dup in gene JPH2 is classified as 'Pathogenic' for Cardiomyopathy,_dilated,_2E. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492. Review status: no assertion criteria provided.