A: The variant NC_000020.11:g.44160228C>T in gene JPH2 is classified as 'Uncertain_significance' for Primary_familial_hypertrophic_cardiomyopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155. Review status: criteria provided, single submitter.