A: The variant NC_000020.11:g.44160305G>T in gene JPH2 is classified as 'Pathogenic/Likely_pathogenic' for Primary_familial_hypertrophic_cardiomyopathy|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|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569. Review status: criteria provided, multiple submitters, no conflicts.