Case2: Male, 43 years diagnosis, China, Asian

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePresentingHPOs: HP:0001639, HP:0001667, HP:0005110 (Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Atrial fibrillation)

HPOsFreeText: 0 SCD risk factors, NYHA class is II, Right ventricular wall thickness 14.9 mm

CaseNotHPOs: HP:0002092, HP:0001642, HP:0030680 (Pulmonary arterial hypertension, Pulmonary stenosis, Congenital heart disease)

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CaseGenotypingMethod: Probands' genomic DNA was extracted from blood samples. WES was performed, with the resulting sequence data mapped to a reference genome and variants filtered for pathogenicity and predicted effects. All variants identified were confirmed via Sanger sequencing of the respective genes.

Variant: NM_000257.3:c.2123G>C (p.Gly708Ala)

ClinVar: 42882 https://www.ncbi.nlm.nih.gov/clinvar/variation/42882/

gnomAD: Not in gnomAD

MultipleGeneVariants:

MYBPC3 Variant:

Variant: NM_000256.3:c.1000G>A (p.Glu334Lys)

ClinVar: 177902 https://www.ncbi.nlm.nih.gov/clinvar/variation/177902/

gnomAD: East Asian 3.338e-3, Overall 2.368e-4 https://gnomad.broadinstitute.org/variant/11-47367848-C-T

**TTN Variant

Unknown Variant

Variant: TTN-E23808K

CAID: N/A

gnomAD: N/A

ACTN2 Variant

Unknown Variant

Variant: ACTN2-P32fs

CAID: N/A

gnomAD: N/A

DSC2 Variant

Unknown Variant, as 3 possible mutations can be responsible for this protein change

Variant: DSC2-S574R

CAID: N/A

gnomAD: N/A

LAMA4 Variant

Unknown Variant

Variant: LAMA4-L1040P

CAID: N/A

gnomAD: N/A

SYNEC2 Variant

Unknown Variant, as 3 possible mutations can be responsible for this protein change

Variant: SYNE2-W5861C

CAID: N/A

gnomAD: N/A