A: The variant NC_000020.11:g.44160272T>C in gene JPH2 is classified as 'Uncertain_significance' for Hypertrophic_cardiomyopathy|Cardiomyopathy,_dilated,_2E|Hypertrophic_cardiomyopathy_17. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0030366,MedGen:C5561970,OMIM:619492|MONDO:MONDO:0013474,MedGen:C3151264,OMIM:613873. Review status: criteria provided, multiple submitters, no conflicts.