A: The variant NC_000020.11:g.44115882G>A in gene JPH2 is classified as 'Uncertain_significance' for Cardiovascular_phenotype|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN230736|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.