Case#: cohort annotation with 8 probands and 25 relatives that are carriers.

DiseaseAssertion: Pathogenic MYBPC3 c.2149–1G>A variant associated with hypertrophic cardiomyopathy

FamilyInfo: Eight unrelated probands, all male, with 45 relatives, 25 where carriers of the variant, 12 had HCM and 13 where unaffected

ParentalTesting: not reported

CasePresentingHPOs: HP:0001712 HP:0002094 HP:0001279 HP:0100749 HP:0001962 HP:0001649 “Left ventricular hypertrophy, Dyspnea, syncope, Chest pain, Palpitations, Tachycardia CaseHPOFreeText:HCM with variable expression with men diagnosed younger then women

CaseNotHPOs:not reported

CaseNotHPOFreeText: not reported

CasePreviousTesting: not reported

Genotyping Method: Sanger sequencing

FunctionalAnalysis: rna analysis shows abnormal transcript, suggesting founder effect.

Variant: MYBPC3 NM_000256.3:c.2149–1G>A

ClinVar: 177814

CAID: not reported

gnomAD:not reported

AdditionalInfo: HCM penetrance increased with age and was highest in males over 30