- Disease-causing germline mutation(s) in Atrial septal defect, ostium secundum type
- Disease-causing germline mutation(s) in Complete atrioventricular canal - ventricle hypoplasia
- Disease-causing germline mutation(s) in Pancreatic hypoplasia - diabetes - congenital heart disease
- Major susceptibility factor in Familial atrial fibrillation
- Major susceptibility factor in Tetralogy of Fallot
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