A: The variant NC_000020.11:g.44186652C>T in gene JPH2 is classified as 'Pathogenic' for Cardiomyopathy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848. Review status: criteria provided, single submitter.