Table 1.

Medically Actionable Genes with Pathogenic or Likely Pathogenic Variants Identified in the Study Population.

Gene	Genetic Disorder	Risk	PMID*
BRCA1	Breast, ovarian, and pancreatic cancer	Breast cancer, 40–87%; ovarian cancer, 16–86%; pancreatic cancer, 2.5%	28632866 (breast and ovarian), 35077220 (pancreatic)
BRCA2	Breast, ovarian, and pancreatic cancer	Breast cancer, 27–84%; ovarian cancer, 13–32%; pancreatic cancer, 2.5%	28632866 (breast and ovarian), 35077220 (pancreatic)
MYH11	Aortic dissection	17%	17666408
GLA	Fabry disease (cardiac, cerebro- vascular, and renal)	Neuropathic pain, 64%; kidney impairment, 33%; end-stage kidney disease, 1%; transient ischemic attack or stroke, 27%; tinnitus and hearing loss, 47%; gastrointestinal symptoms, 53%	15025684
PKP2	Arrhythmogenic right ventricular dysplasia or cardiomyopathy	11–47%	17010805
KCNQ1	Familial atrial fibrillation; long QT syndrome	Long QT syndrome, 73%; sudden death, 9.5%	12702160
SCN5A	Six different cardiac arrythmias; the Brugada syndrome	Syncope, 22–30%; sudden cardiac death, 10–20%	27472692, 27566755
RYR1	Central core disease of muscle; malignant hyperthermia	Malignant hyperthermia, 40.6%	31206373
APOB	Familial hypercholesterolemia	Hepatic steatosis, nearly 100%; severe hepatic steatosis witl occasional progression to cirrhosis, 5–10%	33983694
CACNA1S	Hypokalemic periodic paralysis	Hypokalemic periodic paralysis characterized by low potassi- um, myopathy, and recurrent episodic paralysis, 84–100%	15098604

^*PubMed identification numbers (PMIDs) are provided for the reference or references from which the risk values were obtained.