A: The variant NC_000020.11:g.44160285T>G in gene JPH2 is classified as 'Uncertain_significance' for not_specified|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN230736. Review status: criteria provided, multiple submitters, no conflicts.