A: The variant NC_000020.11:g.44118511G>A in gene JPH2 is classified as 'Uncertain_significance' for Cardiomyopathy,_dilated,_2E|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_17. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0013474,MedGen:C3151264,OMIM:613873. Review status: criteria provided, multiple submitters, no conflicts.