| Gene |
Chromosome |
Location |
Syndrome |
| ADAMTS13 | 9 | q34 | Thrombotic thrombocytopenic purpura | |
| AKAP10 | 17 | p11.1 | Ventricular tachycardia | |
| ALAS2 | 23 | p11.21 | X-linked sideroblastic anemia | |
| CACNA1S | 1 | q32 | Malignant hyperthermia | |
| CALM1 | 14 | q32.11 | Ventricular tachycardia | |
| CALM2 | 2 | p21 | Ventricular tachycardia | |
| CASQ2 | 1 | p13.1 | Catecholaminergic polymorphic ventricular tachycardia | |
| CFH | 1 | q32 | Atypical hemolytic-uremic syndrome | |
| DSC2 | 18 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | |
| DSG2 | 18 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | |
| DSP | 6 | p24 | Arrhythmogenic right ventricular cardiomyopathy | |
| G6PD | 23 | q28 | Glucose-6-phosphate dehydrogenase deficiency | |
| GNAS | 20 | q13.3 | McCune-Albright syndrome | |
| GPI | 19 | q13.1 | Glucose phosphate isomerase deficiency | |
| HFE | 6 | p21.3 | X-linked sideroblastic anemia | |
| IGFBP7 | 4 | q12 | Familial retinal arterial macroaneurysm | |
| ISCU | 12 | q24.1 | Hereditary myopathy with lactic acidosis | |
| JUP | 17 | q21 | Arrhythmogenic right ventricular cardiomyopathy | |
| MYH3 | 17 | p13.1 | Freeman-Sheldon syndrome | |
| PGK1 | 23 | q13.3 | Phosphoglycerate kinase deficiency | |
| PIGA | 23 | p22.1 | Paroxysmal nocturnal hemoglobinuria | |
| PKLR | 1 | q21 | Pyruvate kinase deficiency | |
| PKP2 | 12 | p11 | Arrhythmogenic right ventricular cardiomyopathy | |
| PRKAG2 | 7 | q36.1 | Wolff-Parkinson-White syndrome | |
| RYR2 | 1 | q43 | Catecholaminergic polymorphic ventricular tachycardia | |
| SCN10A | 3 | p22.2 | Small fiber neuropathy | |
| SCN9A | 2 | q24 | Small fiber neuropathy | |
| SERPINA1 | 14 | q32.1 | Alpha-1 antitrypsin deficiency | |
| SLC6A2 | 16 | q12.2 | Orthostatic intolerance syndrome | |
| TGFB3 | 14 | q24 | Arrhythmogenic right ventricular cardiomyopathy | |
| THRB | 3 | p24.2 | Generalized thyroid hormone resistance | |
| TMEM43 | 3 | p25.1 | Arrhythmogenic right ventricular cardiomyopathy | |
| TRDN | 6 | q22.31 | Ventricular tachycardia | |
| TRPA1 | 13 | q13 | Familial episodic pain syndrome | |