A: The variant NC_000020.11:g.44116035G>A in gene JPH2 is classified as 'Uncertain_significance' for not_specified|Cardiovascular_phenotype. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|MedGen:CN230736. Review status: criteria provided, multiple submitters, no conflicts.